HBOC Cancer Risk Part II
October 07, 2020Information
Breast Reconstruction Options | Dr. Tomer Avraham Pancreatic Cancer | Dr. James Farrell Risks, Surveillance: Screening for Men w/ HBC Syndromes, melanoma, prostate, and others | Amy Killie Facilitator | Claire Healy
|
ID5712
To CiteDCA Citation Guide
- 00:00Um? So I would like to welcome
- 00:04everybody to this Milo shares events.
- 00:06My name is Claire Healy.
- 00:07I'm one of the lead genetic
- 00:09counselors in the smilow cancer
- 00:11genetics and Prevention program.
- 00:12An I'll be helping to moderate this event.
- 00:15We're very happy to have you joining us.
- 00:17This is the third web and R Anna series
- 00:20geared towards individuals with hereditary
- 00:22breast and or ovarian cancer syndromes
- 00:25as well as their family members.
- 00:26Tonight we're pleased to welcome
- 00:28doctor Abraham of plastic surgeon
- 00:30who will speak to us about options
- 00:33for breast reconstruction.
- 00:34Doctor Ferrell,
- 00:34who will speak to us about risk
- 00:36for pancreatic cancer associated
- 00:38with some corrected Terry breast
- 00:40and ovarian cancer gene mutations,
- 00:42as well as options for pancreatic
- 00:44cancer surveillance and Amy
- 00:46Killea genetic counselor,
- 00:47who will discuss risk for cancer in
- 00:49men with mutations in hereditary
- 00:51breast and ovarian cancer genes.
- 00:54Each of our speakers will present
- 00:55for approximately 20 minutes,
- 00:57leaving 30 minutes at the end of the session.
- 00:59For questions and answers.
- 01:01Please submit your questions
- 01:02through the Q&A feature,
- 01:03which can be found at the
- 01:05bottom of the web and R window,
- 01:06and questions will be held to the end
- 01:08of all of the talks and we hope to
- 01:11get through as many as possible at the end.
- 01:13So with that I'll turn it
- 01:15over to Doctor Abraham.
- 01:18Good evening, let me just share my
- 01:20screen and get my PowerPoint up.
- 01:27Alright, can you guys see?
- 01:30Somebody nod. Alright, OK,
- 01:31so today I'm going to talk about
- 01:34Mastectomy Reconstruction and women
- 01:36at high risk for breast cancer.
- 01:39I am the one person speaking today who cannot
- 01:42talk too specifically about cancer risk,
- 01:45but an adjunct to it.
- 01:47Then just fair warning,
- 01:49this is plastic surgery talk, so
- 01:51there will be photos with before and after.
- 01:55So if anybody has a problem with
- 01:57photos of breasts, just fair warning.
- 02:01Just a brief outline.
- 02:02We're going to talk a little bit about
- 02:04background of breast reconstruction,
- 02:06how this relates to high risk patients.
- 02:09What the reconstructive konsult
- 02:10is all about and how to figure out
- 02:12a little bit about your options,
- 02:14as well as some examples of women that have
- 02:18reconstructive implants in their own tissue.
- 02:20So my second reconstruction
- 02:21is very common operation.
- 02:23In 2017 the Americans sided plastic surgery
- 02:25approximates that more than 100,000
- 02:27women underwent breast reconstruction.
- 02:29The vast majority of those
- 02:31nationwide were implant based.
- 02:33Reconstruction with less
- 02:34than 5000 being autologous,
- 02:35that is,
- 02:36using their own tissues and
- 02:38that's driven by a lot of things,
- 02:41including the fact that breast
- 02:43cancers are common disease and
- 02:45also some medical economic issues,
- 02:47and something called the Women's
- 02:49Health cancer Rights Act of 1998.
- 02:51So the Women's Health counselor Rights
- 02:54Act in 1998 specifies that insurance is
- 02:57must cover mist ectomy reconstruction.
- 02:59Any surgery that's necessary for
- 03:01symmetrization by an unaffected breast.
- 03:04Any revision surgery that's necessary,
- 03:06as well as prosthesis and special bras.
- 03:09So therefore,
- 03:10that creates an environment where
- 03:13breast reconstruction can be
- 03:15a very common operation.
- 03:17And then you know,
- 03:18I I obviously we have a limited amount
- 03:20of time, so I can't be comprehensive.
- 03:23But there are some issues that
- 03:24are specific to the patients that
- 03:26are high risk patients when it
- 03:28comes to breast reconstruction.
- 03:30For example, in this population,
- 03:31surgery may be preventative
- 03:32rather than therapeutic.
- 03:33That is,
- 03:34these women may not have breast cancer,
- 03:36therefore there may be less urgency.
- 03:38There may be more options on the table,
- 03:41and there are really a different
- 03:42set of psychological and emotional
- 03:44impacts that can be encountered.
- 03:46The patient population that we deal
- 03:49with that's high risk may be younger
- 03:52than the typical mastectomy patient,
- 03:54and again that has lifestyle
- 03:56and psychological implications.
- 03:57There can be different body shapes,
- 04:00body types, and breast issues,
- 04:02and Additionally these patients may
- 04:04have risks for additional cancers.
- 04:06And as I'll discuss later,
- 04:08that can lead to some synergies and
- 04:11some quote coordination between
- 04:13surgical and oncologic teams.
- 04:15Some other considerations that are
- 04:17that nipple sparing mastectomy.
- 04:19There's something that you guys
- 04:20may have heard about,
- 04:22and it's actually a very individualized
- 04:24decision whether to preserve
- 04:26the nipple or not,
- 04:27and it really needs to be made in concert
- 04:30with the breast oncologic surgeon.
- 04:32That's going to be doing the mistake
- 04:34to me and takes into account their
- 04:36technical comfort the patient
- 04:38desires and anatomic realities
- 04:40of a womans breast breast.
- 04:42Risk reducing surgery can
- 04:43also be combined with you.
- 04:45Answered risk reducing surgery as we.
- 04:48As I sort of alluded to earlier,
- 04:51because a lot of the genetic
- 04:54syndromes that are associated with
- 04:56an increased risk of breast cancer
- 04:59also associated with an increased
- 05:01risk of that logic answers.
- 05:05And we found that there are rates of
- 05:08preventative mastectomies are increasing.
- 05:09This has been going on for sometime and
- 05:12while we can't say for sure where that is,
- 05:15we can suspect that it has to do with
- 05:17increased knowledge regarding jeans were
- 05:19finding jeans that are putting women
- 05:21at increased risk for breast cancer.
- 05:24We're finding new ones.
- 05:25There's greater patient awareness and
- 05:27there's events like this that allow
- 05:29patients to feel empowered and educate
- 05:31themselves on us to breast cancer risk.
- 05:33And there's also an increased access to
- 05:35breast reconstruction across the country.
- 05:37Now, when it comes to this,
- 05:40I think patient awareness of
- 05:43reconstruction after Mastectomy
- 05:44as a before and after May 2013,
- 05:47because in May 2013.
- 05:50This woman,
- 05:51Angelina Jolie publicized that she had
- 05:53undergone a bilateral mastectomy for risk
- 05:56reduction with implant reconstruction,
- 05:57and this really obviously generated
- 06:00a lot of buzz.
- 06:01And also I think when you think of
- 06:04a woman whose appearance and who's
- 06:07breast play a larger role in her life
- 06:11than they do for most other women,
- 06:13can go ahead and do this.
- 06:16I think many women in the community
- 06:19at large felt empowered.
- 06:22So there's a lot of decisions
- 06:24that need to be made,
- 06:25and some of these are difficult
- 06:27and evolved complex choices.
- 06:28There's a lot of data that relates
- 06:30to preventative mastectomy,
- 06:31and it can be really be difficult
- 06:33to parse and process one of the good
- 06:36things about breast cancers that
- 06:37we have a lot of data about it,
- 06:39but it can really make decision
- 06:41making very complicated and even
- 06:43for us it's hard to keep track of.
- 06:45So these decisions really should be
- 06:46made in consultation with experts
- 06:48and breast cancer risk.
- 06:49There are specifically expert
- 06:50that that and that could be your.
- 06:53Breast uncle, logic surgeon.
- 06:54It could be your breast medical
- 06:56oncologist or Jeanette assist
- 06:57that has specific training and
- 06:59experience with this particular risk
- 07:01genetic sister genetic counselor.
- 07:05So finally, we're getting to the
- 07:07plastic surgery aspect of things,
- 07:08the reconstructive console.
- 07:09There's going to be a lot that's
- 07:11thrown at the patient at this time.
- 07:13The console is appropriate even if
- 07:15the patient is not ready to proceed.
- 07:17I do these alot, and while they're
- 07:18not always the highest yield,
- 07:20and I think of them a little
- 07:22bit as information sessions,
- 07:23I think it's a lot to think about,
- 07:25and you can store to start
- 07:27getting the process percolating.
- 07:28There's really a ton of options,
- 07:30and it can be really overwhelming.
- 07:31I encourage patients to write down the
- 07:33questions and to bring somebody with them.
- 07:35That could help him remember things
- 07:37and sort of advocate for them.
- 07:38And it's OK to remember this
- 07:40is really complicated.
- 07:40Took me 10 years to learn what all
- 07:43the options are and I don't expect
- 07:45the patient to be able to figure
- 07:47that out in 45 minutes to an hour.
- 07:49And it's important to remember
- 07:51the breast reconstruction is
- 07:52about empowering the patient.
- 07:53You know alot of women have
- 07:55guilt associated with us,
- 07:57but I think it's important to remember
- 07:59that wanting to have breasts is not vain.
- 08:02Women are generally used to seeing themselves
- 08:04with breast starting from age 1213.
- 08:06Something like that.
- 08:07And by the time they
- 08:09reached their 30s and 40s,
- 08:11this sort of imprinted in their self image.
- 08:13And I think it's very traumatic
- 08:15to lose that the console should be
- 08:18centered around the patient's goals.
- 08:20And the patient should feel confident
- 08:22to openly share their goals,
- 08:23their concerns,
- 08:24and their preconceptions with
- 08:25their plastic surgeon.
- 08:26And I think it's also important to
- 08:29encourage the patient to be educated.
- 08:31And we all know that this is a double
- 08:33edged sword because the information that
- 08:35you find can be sometimes misleading.
- 08:38But I always find that an educated
- 08:40patient isn't happy, patient.
- 08:43And then I,
- 08:44as the plastic surgeon,
- 08:45need to learn a lot about you
- 08:47at this console.
- 08:48They need to know all sorts of things.
- 08:50Value ranging from the mundane,
- 08:51such as your age and other medical problems
- 08:53to things that are specific to breast
- 08:56reconstruction suits your breast size,
- 08:57your shape,
- 08:58your body type.
- 08:59Oh epic wants me to upgrade what
- 09:03previous surgeries you've had?
- 09:04What do you do for living?
- 09:06Are you able to miss significant
- 09:08amount of time from work?
- 09:10What lifestyle issues are there,
- 09:11and what are the activities that are
- 09:14important to you that we don't want to
- 09:17harm when performing breast reconstruction?
- 09:19And then I think the next important
- 09:20part is setting expectations and
- 09:22what the goals of the reconstruction
- 09:24is so you know some of these things
- 09:26that I say come straight out of sort
- 09:28of my spiel that I give to patients.
- 09:30And you know,
- 09:31I talk to patient about three goals
- 09:32of Reconstruction and the first
- 09:342 should be readily achievable,
- 09:35barring a complication and 3rd
- 09:37takes time and takes time,
- 09:38time,
- 09:38and work both on my part and the patients
- 09:41bar, because some of it is psychological.
- 09:43And the first goal is that in in
- 09:45clothing nobody should know women.
- 09:46You know, pretty much pretty much
- 09:48every woman does not want this to be.
- 09:50A conversation starter with strangers
- 09:51asking what's going on with her breasts.
- 09:53An second goal is that I want my patients
- 09:55to be comfortable looking at themselves.
- 09:57The we can't have a situation where woman is.
- 10:00Your clothes off to go take a shower and
- 10:02is avoiding the mirror because she's
- 10:04horrified to look at herself and then third
- 10:06goal and this takes time as I mentioned,
- 10:07is being comfortable with
- 10:08somebody else seeing their brows.
- 10:10Somebody else touching the breast.
- 10:11Since things like sex and intimacy.
- 10:13And again,
- 10:14in terms of setting expectations important,
- 10:16remember the reconstructed breasts will never
- 10:18look exactly the same as native breasts.
- 10:20Whether they will look better.
- 10:22Worst indifferent is sort of
- 10:23multifactorial and also subjective,
- 10:25so I think that I try not to get into
- 10:27that because that's a judgment call,
- 10:30but ultimately it's important to remember.
- 10:32The rest will not look exactly the same.
- 10:35And the last thing that's important
- 10:37to remember is that for the
- 10:39optimal static outcome,
- 10:40and this is variable from women to
- 10:42women's two from woman to woman has
- 10:44to how important this is to them.
- 10:47The optimal aesthetic outcome will almost
- 10:49certainly require additional revision,
- 10:50so additional small surgeries.
- 10:51So while a lot of these reconstructions are
- 10:53presented as single stage reconstructions,
- 10:55they almost all require small touch ups.
- 10:59Alright,
- 10:59so when I talk to women about options
- 11:01for mastectomy reconstruction,
- 11:03I tell them right off the bat that
- 11:05I'm going to oversimplify things
- 11:07because otherwise we're just
- 11:08going to drown information.
- 11:10So let's go ahead and supply things and
- 11:12find X and the oversimplification is that
- 11:15there are implants based reconstruction
- 11:17and tissue based reconstruction and
- 11:19choosing between the two were required
- 11:21taking into account patients goals as
- 11:23well as the reality of their specific
- 11:25situation in terms of medical conditions,
- 11:27body types, and lifestyle issues.
- 11:31So implant reconstruction,
- 11:32there it is.
- 11:33There's the the breast implant usually
- 11:35done either in one or two operations.
- 11:37Sometimes the temporary
- 11:38implants plays followed,
- 11:39replaced by replacing it
- 11:41with a permanent implant.
- 11:42Implants are either Saline or silicone.
- 11:44Again, without getting into too much,
- 11:46a strongly favorite silicone implants,
- 11:48I'm happy to discuss that with anybody
- 11:50that has specific questions to that,
- 11:52and then the important thing to
- 11:54remember is that we do not use
- 11:57textured implants or the solid
- 11:58implants so called gummy bear implants.
- 12:01Those have been associated with a rare
- 12:04type of lymphoma and actually yell
- 12:06was at the forefront of banning these
- 12:09implants even before the FDA active.
- 12:12So what are the advantages of
- 12:14using implants reconstruction?
- 12:15It's a shorter operation and
- 12:16a shorter recovery time.
- 12:17It does not add a ton of surgery to the
- 12:20mastectomy that you're already having,
- 12:22and basically it's volume on demand.
- 12:23So the implants come off the
- 12:25shelves in a variety
- 12:26of sizes and we can pick sizes based on that.
- 12:30There are disadvantages.
- 12:31Biggest disadvantage,
- 12:31I think, is that it's not always the most
- 12:33natural looking or feeling reconstruction.
- 12:35It's not the same as putting in a breast
- 12:38implant for cosmetic surgery with implants.
- 12:40It's under the breast.
- 12:41Your implant is essentially sitting
- 12:42under the skin and particularly renewed.
- 12:44It's fairly obvious that it's breast mound
- 12:46in most cases rather than a true breast.
- 12:48Implants are likely to have a
- 12:50problem that requires them to be
- 12:52replaced at some point in time.
- 12:53That's going to come into the into
- 12:55play during the woman's lifetime.
- 12:57I tell women an average of 15 years or so,
- 13:00and then there's an entity
- 13:01called breast implant illness.
- 13:02Or buy this is there are women there
- 13:04report that they feel like they've
- 13:06been harmed by their implants and
- 13:07they reported a variety of symptoms
- 13:09that are sort of nonspecific.
- 13:10And while I don't know for sure that implants
- 13:12are actually causing these symptoms,
- 13:14I don't think these women are crazy.
- 13:16They're feeling what it is that
- 13:17they're feeling and we don't know
- 13:19for sure that it's not the implants,
- 13:21so it's something to keep in mind.
- 13:23So just some examples and you know,
- 13:26as I warned you,
- 13:27we're going to be seeing some breasts.
- 13:30This is a woman in her 20s who
- 13:32underwent preventative mastectomy,
- 13:34and then a reconstruction with temporary
- 13:36implants followed by permanent implants
- 13:38and a nipple sparing mastectomy.
- 13:40And this is her outcome about a month
- 13:42after her implant exchange fairly good
- 13:45outcome with reasonable volume and shape.
- 13:48This is a woman and you'll
- 13:51see the blue squares.
- 13:52When I blocked out potentially
- 13:54identifying tattoos.
- 13:55This is another woman very slight
- 13:57in her 20s with very good breast
- 13:59aesthetics that wanted a single
- 14:02stage reconstruction so she had
- 14:04her preventative mastectomy again.
- 14:06Nipple sparing followed wide implant that
- 14:08was placed at the same time of them stacking.
- 14:14And then just our last example.
- 14:16This is one more woman that was done.
- 14:18This was more recent.
- 14:20I wonder if we can see her kovid
- 14:22mask in one of these pictures and
- 14:24she also had a single stage single
- 14:27stage reconstruction with an implant.
- 14:29And as you can see,
- 14:31these are all very good results.
- 14:32Very asthetic results,
- 14:33but they do not look exactly
- 14:35the same as their native rust.
- 14:37And then there's tissue reconstruction
- 14:39and for Full disclosure,
- 14:40this is my preferred method
- 14:42of reconstruction.
- 14:42For most women,
- 14:43it's a preferred operations to
- 14:45much more interesting operation.
- 14:46I think it's a better and
- 14:48more lasting result.
- 14:49There are several options,
- 14:50but the majority of the time we
- 14:53take tissue from the lower abdomen.
- 14:55It's a much bigger operation and recovery,
- 14:57and the way I've presented to
- 14:59women is to think of it as a
- 15:02larger upfront investment for
- 15:04what may be a longer term result.
- 15:07So again, advantages,
- 15:07there's no implant,
- 15:08there's no foreign body,
- 15:09and some women are really disturbed by.
- 15:11That idea doesn't require the
- 15:13upkeep or replacement of an implant.
- 15:15An study after study shows
- 15:16that in the long run,
- 15:17women tend to be more satisfied with tissue
- 15:20reconstruction then finally construction.
- 15:22Their disadvantages,
- 15:23it's much bigger surgery in a
- 15:24much more significant recovery.
- 15:25And as I say to women,
- 15:27you're having surgery somewhere
- 15:28where you don't need to.
- 15:29There's nothing wrong with your belly.
- 15:31You do need to have surgery on your breasts.
- 15:33That doesn't necessarily mean we have
- 15:35to make a decision on your belly.
- 15:38And I like I said,
- 15:39the most common form of tissue
- 15:41reconstruction is the deep flap,
- 15:42which is tissue taken from the belly,
- 15:44similar incision to a tummy tuck.
- 15:45Blood vessels are taken with
- 15:47the tissue dissected through the
- 15:48muscle and then hooked up the blood
- 15:50vessels in the chest to allow that
- 15:52tissue to replace the filling.
- 15:53In some of the skin of the breast.
- 15:56Some examples.
- 15:57This is a woman again just going
- 15:59to the fact that this is a
- 16:01preventative mastectomy.
- 16:02It gives us time.
- 16:03There's no rush,
- 16:04so she wanted preservation of her nipples.
- 16:06She obviously has large breasts
- 16:08that have some sag related to
- 16:10breastfeeding and what we did
- 16:11here is we did a breast reduction
- 16:13followed by a mastectomy and adi
- 16:15flap and this is her shortly after
- 16:18her reconstruction you can see she
- 16:20has a small wound on the left that
- 16:22ended up healing and you can see
- 16:24the scar across her belly, but this is.
- 16:27A reconstruction with their own tissues.
- 16:30This is another woman is similar results.
- 16:33She's in her 40s.
- 16:35She's breastfed multiple children
- 16:36and she has sagging of the breasts.
- 16:39She is,
- 16:40however,
- 16:40quite thin and what we did here is we did a
- 16:45breast lift at the time of the breast lift.
- 16:48Doctor Elena Ratner,
- 16:50whose are GY,
- 16:51an oncologist extraordinaire,
- 16:52did Jiwan Guanica logic risk reducing
- 16:55surgery and then we came back and
- 16:58did reconstruction with tissue
- 17:00from her belly. Nipple preservation
- 17:05Women come in all different shapes and sizes.
- 17:07This is a woman in her late 20s.
- 17:10She is. She carries some extra weight.
- 17:12She did not wish to have
- 17:14her nipples preserved.
- 17:15She was concerned about any breast
- 17:17tissue that may be left behind in
- 17:19her nipple and therefore she had
- 17:21nipple sacrificed with her mastectomy
- 17:23and she wanted to be upsized.
- 17:25And this is her early result, obviously.
- 17:28Will want to tweak her belly
- 17:30a little bit over all.
- 17:32Her aesthetic result for breast
- 17:35reconstruction is very good.
- 17:37And then again more recent example.
- 17:40This is a woman that had a mastectomy and
- 17:44immediate reconstruction with flat with
- 17:46tissue from her belly at that same time.
- 17:50Doctor Radner did Lapre Scopic surgery to
- 17:53reduce some of organic logic cancer risks.
- 17:58And this is her early result.
- 18:00Those are not not heard net native
- 18:02nipples or nipple reconstructions.
- 18:04She likes to use paste on nipples
- 18:06and she's comfortable with that.
- 18:08Did not wish to have any further surgery.
- 18:12So I'll I'll give a yield my time
- 18:14since we're running out of time.
- 18:16Some take home messages.
- 18:17I know I just ran through a lot
- 18:20and this is a brief period of time
- 18:22to take in all this information.
- 18:23So take home messages.
- 18:25It's never too early to get your
- 18:27information and start your due
- 18:28diligence and to educate yourself.
- 18:30Breast reconstruction is a right for all
- 18:33insured women in this includes Medicare
- 18:36and Medicaid as codified by federal law.
- 18:39This is not a one size
- 18:40fits all type of operation.
- 18:42Therefore it's important to work
- 18:43with the team that can offer all
- 18:46possible types of Reconstruction.
- 18:48Breast reconstruction is pretty significant.
- 18:49Physical and emotional investment.
- 18:51This is not something that's going to.
- 18:53We're going to wave a wand,
- 18:55and everything is going to
- 18:57be perfect right away,
- 18:58and the optimal reconstruction
- 18:59may require several stages,
- 19:01and then you know I was trying to figure
- 19:04out what the best way to put this was.
- 19:08And I guess the take home is that it
- 19:10doesn't matter what anybody thinks,
- 19:12it's the woman and the patient
- 19:14that dictates the role that
- 19:16their breast play in their lives.
- 19:18And it's my job is the reconstructive
- 19:20surgeon to facilitate these decisions.
- 19:21So this is This,
- 19:23Is It?
- 19:23I'll give my give it over to the
- 19:26next speaker and I'll be happy to
- 19:28answer any questions at the end.
- 19:44I think you'll need to. There we go. More.
- 19:58OK. Where are those? OK. Is that
- 20:03your slides are my slides. Those
- 20:05are your slides. Doctor Ferrell,
- 20:07you should be able to nag navigate
- 20:09through them unless you'd prefer to pull
- 20:11them up yourself.
- 20:12No, no, that's that's quite far ahead.
- 20:14Thanks very much.
- 20:15Again. Thanks very much.
- 20:16The organizers for putting these
- 20:18sessions together is kind of in this new era.
- 20:22Nice to talk about pancreatic cancer.
- 20:24The wrist and surveillance.
- 20:26My name is James Farmer,
- 20:28gastroenterologist,
- 20:28predominately in code with an
- 20:30interest in pancreatic disease,
- 20:32and obviously the overlap with hereditary
- 20:34breast and ovarian cancer syndromes.
- 20:36Is is the reasons like it to
- 20:39work in this very interesting,
- 20:41exciting world of genetic risks so.
- 20:45Count advance, that's the only thing.
- 20:46So if I go to my own slides,
- 20:48let me just take pull up my own slides,
- 20:50right?
- 20:51'cause I can't.
- 20:52Stick to store
- 20:53China Doctor Ferrell.
- 20:54I think I just gave you control.
- 21:00No. You know? Let me it
- 21:06just me or is this? You
- 21:08know that that that's me, but if
- 21:10you do start start from beginning.
- 21:13Let me just try and pull up my own slides,
- 21:15otherwise I won't be able to advance.
- 21:19Let me just try. If not,
- 21:22it will go back try that will
- 21:25do share and we will go to.
- 21:31How's that OK? So you know pancreatic
- 21:34cancer compared to a lot of other
- 21:37accounts is not as common when you look
- 21:41at numbers in terms of kind of estimated.
- 21:44Rates for all cancers.
- 21:46It's actually low down on the list
- 21:49like #9 and #10 for for men and women,
- 21:52but when you look at cancer related deaths,
- 21:55it jumps up to #4.
- 21:57And for 2020 those rising number
- 21:59of about 56,000 cases or so at
- 22:02an equally large number of deaths
- 22:04due to the nature of the disease,
- 22:07and it's estimated that by 2025,
- 22:09which is rapidly approaching but least,
- 22:122030 pancreatic cancer will be the second
- 22:15most common cause for cancer related deaths.
- 22:18Maybe the 1st and this is due to a
- 22:20variety of issues for short progress with
- 22:22other diseases in other types of cancers,
- 22:24but also kind of the slow incremental
- 22:26progress that's been made or the slower
- 22:28incremental progress that's been made
- 22:29with pancreatic cancer treatment,
- 22:31as well as the early detection.
- 22:35So this is a patient with a.
- 22:37This is a cat scan and this area I can
- 22:40just tell you here in the center is a
- 22:43pancreatic cancer at a very early stage.
- 22:45At the liver is over here and can tell it
- 22:48was no evidence of any disease in the liver.
- 22:51And also these are these white structures.
- 22:54Here are major large blood vessels
- 22:55in the tumor is away from that,
- 22:58and so this is a patient who has a
- 23:01surgically resectable pancreatic cancer.
- 23:03This is a patient also with a Mass
- 23:06in the head of the pancreas and it's
- 23:09very close to this blood vessel as
- 23:11a major blood vessel in the area.
- 23:14So a surgeon typically would not
- 23:16be able to surgically resect this
- 23:18without having to take a blood vessel.
- 23:21So this is what's called locally
- 23:24advanced disease.
- 23:26And this is pancreatic cancer,
- 23:27where the disease has spread outside
- 23:29the pancreas,
- 23:30and now we're dealing with disease lining
- 23:32the lining of the value of the Pirton name.
- 23:35So this is meta static disease,
- 23:37and when you look at pancreatic
- 23:39cancer in terms of site presentation.
- 23:42Unfortunately,
- 23:42the the number of patients is presented to
- 23:45patients who presented at early surgery.
- 23:47Resectable stage is kind of an optimistic
- 23:5015%, and those patients do better.
- 23:52They do well with a median survival
- 23:55in the region of 20 to 25 months,
- 23:58but unfortunately the vast majority
- 24:00of patients are presenting either
- 24:02at that locally advanced stage,
- 24:04whereas surgeon counters sect or at a
- 24:06meta static stage where the disease has
- 24:09spread to the liver or beyond and so.
- 24:12Removing the primary pancreas
- 24:15does not make biological sense.
- 24:19So despite you know some of these late
- 24:21presentations and realizing that the
- 24:23vast majority of patients do currently
- 24:25still presented a late stage and require
- 24:28medical treatment with chemotherapy,
- 24:30or sometimes radiation therapy,
- 24:32there have been advances,
- 24:33and so one of the studies that has been.
- 24:39That has pushed this field along Kurt about
- 24:4110 years ago where a new regiment of drugs
- 24:44called Folfirinox was going to be vastly
- 24:46superior to the existing drugs outside of in,
- 24:49and this is really kind of sparked
- 24:51a lot of new interest in this area,
- 24:54but there's still a long way to go and again,
- 24:57the vast majority of patients still succumb
- 24:59to the disease even after chemotherapy.
- 25:01And even after surgery, unfortunately.
- 25:05So there's many reasons for why the prognosis
- 25:08with pancreatic cancer is poor and why.
- 25:10Alot of the patients will
- 25:12present at late at late stage,
- 25:14and somebody has to do with the
- 25:16very nonspecific symptoms associated
- 25:18with the disease.
- 25:19Here's just a list of the more common one,
- 25:22and if you look at them like abdominal pain,
- 25:25weight loss, anorexia, nausea,
- 25:26vomiting, depression, back pain,
- 25:28these are very common,
- 25:29nonspecific abdominal pain.
- 25:31They don't have to be pancreatic cancer.
- 25:34Jaundice is also an attorney.
- 25:35Turning yellow is also
- 25:37very common presentation,
- 25:38but there's many explanations for that,
- 25:39as well as the darkening of urine.
- 25:43Two other presenting symptoms that are
- 25:44just kind of worth noticing will come.
- 25:47Will come back to the diabetes,
- 25:48but include acute pancreatitis.
- 25:50This is a patient who presented
- 25:52with acute pancreatitis,
- 25:53and so pancreatitis is inflammation
- 25:55in the pancreas typically associated
- 25:57with gallstones or alcohol use.
- 25:59In this patient,
- 26:00presented in December of 2015 and
- 26:02everything basically settled down
- 26:04when they came for reevaluation of
- 26:06their pancreas several months later.
- 26:08But their pancreas was perfectly normal,
- 26:10even by the best image in we had.
- 26:13There was no hint of anything going on.
- 26:16That was February 2016.
- 26:18And then the patient presented back in
- 26:21November 2018 so well over two years later,
- 26:24with the pancreatic ductal adenocarcinoma.
- 26:27So what we surmised from this that would
- 26:29it that there was something going on
- 26:31back in these early stage in 2015 to 2016,
- 26:34but just beyond the limitations of our
- 26:36imaging to kind of pick up what was
- 26:38going on and so acute pancreatitis
- 26:40as a presentation can't be ignored.
- 26:42And when it's when patients are
- 26:44followed to have acute pancreatitis
- 26:45and matched with the individuals
- 26:47who don't have pancreatitis,
- 26:48there is an increased risk of
- 26:51an underlying pancreatic cancer
- 26:53which we have to keep in mind.
- 26:56So specifically related to pancreatic
- 26:58pancreatic cancer screening,
- 26:59and most people are familiar with
- 27:01the terminology of screening as it
- 27:04relates to do even breast cancer
- 27:06screening or even colon cancer screening
- 27:09for previous cancer screening.
- 27:11The issues are quite difficult
- 27:13and quite challenging.
- 27:14People have defined a successful
- 27:16screening program as the ability
- 27:18to detect and treat very early,
- 27:21small,
- 27:21resectable pancreatic cancer and
- 27:23asymptomatic stage or the ability to find.
- 27:26Precancerous lesions they have
- 27:27names called patterns or IP Mens,
- 27:29which I'll come back to and this
- 27:31is a very high challenge for
- 27:34pancreatic cancer screening.
- 27:36Now a lot is being found out about pancreatic
- 27:39cancer over the last 10 or 15 years.
- 27:42It is incredibly studied disease
- 27:44and we know about the sequence,
- 27:46so we understand a lot about the
- 27:48sequence from the normal pancreas
- 27:50through a variety of stages leading
- 27:53to pancreatic ductal adenocarcinoma.
- 27:56Sometimes people will often ask when
- 27:57people present with pancreatic cancer.
- 27:59Well, how long was it there?
- 28:01Like when did this actually
- 28:02show up and should?
- 28:04I could have found it earlier if I
- 28:06had this scan and the reality is,
- 28:08is that when it goes from an
- 28:10early two of metastatic or locally
- 28:12advanced metastatic stage,
- 28:13it's probably of the order of 1
- 28:15to 1 1/2 years is a relatively
- 28:18short timeframe when it presents
- 28:19as an invasive cancer.
- 28:21The more interesting aspect of it is
- 28:23that there is some information that
- 28:25tells us that for a pancreatic cancer
- 28:27to develop from a perfectly normal
- 28:30pancreas through precancerous stages,
- 28:32and then to pancreatic cancer
- 28:33can take up to 11 years,
- 28:35and what that means to me is that it
- 28:38provides a very large opportunity for
- 28:40intervening and trying to find these
- 28:42cancers or precancers at an early stage.
- 28:45Now, unfortunately,
- 28:46a lot of the pre counts is that we see
- 28:49with pancreatic duct that no carcinoma.
- 28:52Are not clearly visible with the
- 28:54standard CT scan or an MRI scan,
- 28:56but there is a subgroup of
- 28:58precancerous lesions which are,
- 29:00and these are what are called.
- 29:02Pancreatic cysts are fluid collections,
- 29:03and it's guesstimated that they contribute to
- 29:06about to about 1/4 of all pancreatic cancers.
- 29:09Now,
- 29:09pancreatic cysts are very common,
- 29:11and Arg estimated to occur in about 6
- 29:14million people in the entire US population.
- 29:16They typically are found on CT
- 29:18scans done for other reasons,
- 29:20so individuals might have a kidney stone,
- 29:22for example,
- 29:23and then at the end up having a
- 29:25CT scan to look for the kidney
- 29:28stone and Lo and behold,
- 29:30we find this in this particular situation.
- 29:32A 2 centimeters cyst of fluid
- 29:34collection in the pancreas.
- 29:35The image down below is a more
- 29:37extreme version where there's multiple
- 29:39cysts throughout the pancreas.
- 29:41But sister very,
- 29:42very common and clearly the vast majority
- 29:44of sister found do not develop into cancer,
- 29:46but some of them do,
- 29:48and a lot of work has been done in to
- 29:50try and figuring out which patients
- 29:53we should be more aggressive with,
- 29:55in which patients we can follow.
- 29:59The other issues relating to.
- 30:00To pancreatic cancer are issues
- 30:03that are are are.
- 30:06Modifiable risk factors that
- 30:08necessarily that include exogenous
- 30:10factors that are related to the
- 30:12development of pancreatic cancer.
- 30:14Most of them You're probably familiar with,
- 30:16including things like tobacco.
- 30:18There is a small cigarette.
- 30:19Smoking is a small risk
- 30:21associated with alcohol.
- 30:22Use H Pie.
- 30:23Laurie infection of the stomach
- 30:25and some of our opportunities
- 30:27have been associated with that.
- 30:29Through a mechanism of inflammation,
- 30:31obesity is also risk factors
- 30:33for pancreatic cancer,
- 30:34as it is for a variety of other cancers
- 30:36we've already already mentioned
- 30:38pancreatitis or inflammation of the pancreas.
- 30:41And then we'll come back to this issue of
- 30:44diabetes in the risk of how diabetes plays,
- 30:46let me just finish up that how
- 30:49diabetes plays a role in the
- 30:52development of pancreatic cancer.
- 30:53There are some things that we
- 30:55have very little influence on
- 30:57in terms of inherited risk.
- 30:58These are the non modifiable risk factors,
- 31:00including genetics syndromes and found
- 31:02the history which will also come back to.
- 31:05So diabetes and pancreatic cancer
- 31:07is a very complex subject.
- 31:09Diabetes is quite common,
- 31:11and for sure,
- 31:12diabetes can increase the risk of
- 31:14developing Packer account credit cancer
- 31:16so that factor has been well established.
- 31:19But it's also now appreciated that
- 31:21pancreatic cancer in itself can result
- 31:24in diabetes and affect blood sugar,
- 31:26and so diabetes can in fact be a
- 31:29presentation for pancreatic cancer.
- 31:31It is a very complex area,
- 31:33and there's a lot of combined
- 31:35and shared risk factors like.
- 31:37Obesity and insulin resistance
- 31:38and age and so on so forth.
- 31:40And we're still teasing apart a lot of it.
- 31:44A fairly large study that was
- 31:47done several years back of 512.
- 31:49Newly diagnosed pancreatic ductal
- 31:51adenocarcinoma patients showed that
- 31:53somewhere about 85% of all patients had
- 31:56some form of elevated fasting blood glucose.
- 32:00Some of them met.
- 32:03American Diabetic Association
- 32:05criteria for new onset diabetes and
- 32:08others also had long lasting as well
- 32:11established ivs and others had kind
- 32:13of prove it what we call prediabetes.
- 32:16But overall,
- 32:17about 85% of all patients with presenting
- 32:19with pancreatic adenocarcinoma had some
- 32:22fasting blood glucose abnormality to
- 32:24tease this out a little bit further,
- 32:27people have actually gone back and
- 32:30notice that blood sugars begin to arise.
- 32:33About 36 months before the visibility
- 32:36of pancreatic ductal adenocarcinoma
- 32:37of the pancreas,
- 32:38so there's something going on
- 32:40in the pancreas at a very,
- 32:43very early stage that results in
- 32:45the blood glucose rising and the
- 32:48body's inability to control it.
- 32:50Presenting ultimately,
- 32:51in some form of diabetes.
- 32:55People often ask about why don't we have
- 32:58a blood marker for pancreatic cancer,
- 33:00and it's not for lack of trying effect.
- 33:03There's a variety of ongoing studies
- 33:05and potentially available blood
- 33:06markers that are out there for a simple
- 33:09blood test for pancreatic cancer.
- 33:10This is one such market that we are
- 33:13actually currently a valid one set of
- 33:15markers we're currently evaluating,
- 33:17but the real challenge is how
- 33:19these markers are.
- 33:20These blood tests behave
- 33:21in the general population,
- 33:22and this is one of the reasons
- 33:24why we don't do currently general
- 33:26population screening for.
- 33:28I gotta cancel like we do for colon
- 33:30cancer or breast cancer and it's
- 33:32just that our the way our tests are
- 33:35designed and due to the relatively
- 33:37low prevalence of the disease
- 33:39compared to these other diseases,
- 33:40it would result in water called
- 33:42a lot of false positives so that
- 33:45the test would be positive.
- 33:46But the vast majority of patients
- 33:48with a positive blood test would in
- 33:50fact not turn out to have cancer
- 33:52or pancreatic cancer specifically,
- 33:54and so we have to get better at
- 33:57managing this.
- 33:58So there's a lot of knowledge about walk.
- 34:00Go into a good blood test,
- 34:02but the problem is how do we deal with
- 34:04that positive blood test and avoid
- 34:06a lot of these false positive tests?
- 34:09And the real approach to this in 2020
- 34:12has been to focus on high risk groups.
- 34:14We've talked about pancreatic system.
- 34:16We talked about diabetes and just
- 34:18for the remaining of the talk,
- 34:20I want to talk about familial
- 34:23pancreatic ductal adenocarcinoma,
- 34:24which makes up about 10% of all
- 34:26presentations for pancreatic
- 34:27ductal carcinoma.
- 34:28If you could go asking if you ask
- 34:30about family history if you go looking
- 34:33for hereditary syndromes or looking
- 34:35for germline mutation in the blood,
- 34:37you'll find some hereditary
- 34:39susceptibility to pancreatic cancer.
- 34:41Now a lot relates to how many first,
- 34:44how many first degree relatives you
- 34:46have and the greater the number of
- 34:481st degree relatives you have with
- 34:50pancreatic ductal adenocarcinoma.
- 34:52The increased relative risk going from
- 34:54about 4.6 if you've got one first
- 34:57degree relative all the way up to
- 34:59about a 3232 increased relative risk.
- 35:02If you have 3 first degree relatives,
- 35:04normally I would ask people to
- 35:07identify those individuals and
- 35:09I could tell you that this is.
- 35:11President Carter and his brother
- 35:13Billy I believe was his name and
- 35:16The Carter Family is.
- 35:17That is kind of one of the more
- 35:19well known families that had at
- 35:22least eight or nine relatives,
- 35:24all with pancreatic cancer.
- 35:25No identifiable gene was found.
- 35:27President Carter,
- 35:28to the best of our knowledge,
- 35:30never had pancreatic counts,
- 35:32for which he attributes to not smoking,
- 35:34but interesting when we look
- 35:36at these large families,
- 35:38the most common abnormality or
- 35:40germline mutation that's found.
- 35:41But it's.
- 35:42They only found up the order of like
- 35:4520% depending which group you're looking at.
- 35:48Is the bracket two mutation?
- 35:50So still the majority of
- 35:51patients that have a familial
- 35:53pancreatic cancer risk?
- 35:54We do not have a clearly
- 35:57identifiable germline or blood test
- 35:59or mutation that we can look for.
- 36:02So these are the familial syndromes
- 36:05that are associated with pancreatic
- 36:07cancer with respect to kind of
- 36:09the focus of these sessions.
- 36:11Bracco one, but especially bracket two
- 36:14pal between ATM are really the most
- 36:17common German abnormalities that we find.
- 36:20There are a variety of other
- 36:22abnormalities such as Peutz, Jegher,
- 36:24hereditary nonpolyposis colon cancer with
- 36:27abnormalities in the mismatch repair genes.
- 36:29There's a series of jeans that are associated
- 36:32with hereditary pancreatitis which.
- 36:35Results in recurrent attacks
- 36:36of acute pancreatitis.
- 36:37There's a very high risk gene called AP 16.
- 36:40Mutate mutation,
- 36:41as well as the APC Mutation.
- 36:43But as I said to you before,
- 36:46for a lot of patients with familial
- 36:49pancreatic cancer where we know
- 36:51that it runs in the family's but
- 36:53we just don't have a germline or an
- 36:56identifiable gene in that family.
- 36:58So in 2020 these are the list of
- 37:00individuals that we would offer
- 37:03pancreatic cancer surveillance too.
- 37:05We typically are doing it as part
- 37:07of a research protocol,
- 37:09but you could actually get this as part
- 37:12of standard of care for clinical practice.
- 37:14That is implications for insurance coverage,
- 37:17but we would prefer and strongly
- 37:19recommend individuals do it as
- 37:21part of a research protocol,
- 37:23and we have a variety of research
- 37:26protocols that are open at Yale.
- 37:28The groups that we are primarily
- 37:31interested in are really just
- 37:33coming from the prior table.
- 37:35Include patients with Peutz Jegher syndrome,
- 37:37familial pancreatic cancer individuals.
- 37:38So again,
- 37:39anybody over the age of 55
- 37:41with at least two first degree
- 37:43relatives with pancreatic cancer.
- 37:45Any individual one of those
- 37:47germline mutations,
- 37:48and we do think about high risk
- 37:50German mutations like bracket two,
- 37:52copy to an ATM,
- 37:54but also the other germline mutations
- 37:57such as Braca one and H and peaked.
- 37:59And then that final group
- 38:01of hereditary pancreatitis,
- 38:02which is a less common entity bonus.
- 38:04So this associated with an
- 38:06inherited predisposition to getting
- 38:08recurrent attacks of pancreatitis.
- 38:10As we're about a month ago,
- 38:12we are following about 127 patients.
- 38:14I think we're now up to about 140 again,
- 38:17a large number of these do not
- 38:19have any demonstrable germline
- 38:20abnormality that they've been hurted,
- 38:22and as you can see the breakdown there is,
- 38:25as we've alluded to already.
- 38:29This is one of the interesting things that
- 38:31goes on when we study these individuals.
- 38:34All these individuals get a combination
- 38:36of mris of their pancreas as
- 38:38well as an endoscopic ultrasound,
- 38:39which is a very high resolution
- 38:41imaging study of the pancreas and then
- 38:44obviously biopsying anything that's
- 38:45concerning or or suspicious to us.
- 38:47Research studies in the past
- 38:49have collected pancreatic juice
- 38:50from these individuals,
- 38:51and when some of these
- 38:53individuals have gone to develop,
- 38:55pancreatic cancer were able to go
- 38:57back and look at pancreatic juice.
- 38:59From several years anywhere from
- 39:014 to 61 months prior to the
- 39:04presentation of the cancer,
- 39:06when the patients imaging was perfectly
- 39:08normal and find some abnormal DNA
- 39:10mutations suggestive of an early tumor.
- 39:13And so the hope is that that might be
- 39:16one strategy for further surveying
- 39:18and selecting out individuals at risk
- 39:21for developing pancreatic cancer.
- 39:24One of the issues that comes up all the time
- 39:27is what effect does this have an outcome?
- 39:30Does this actually improve our ability to
- 39:33detect pancreatic cancer early and improve
- 39:35the overall outcome of these individuals?
- 39:37And this data is really just beginning to
- 39:40accrue because this work has really only
- 39:43been going on for about the last 10 years,
- 39:46and now we're beginning to see
- 39:48long-term survival studies.
- 39:49This is one large study that looked
- 39:52at pancreatic ductal adenocarcinoma
- 39:53diagnosed during.
- 39:55Active surveillance program and stage
- 39:57for stage was associated with improved
- 39:59survival compared to individual.
- 40:01Presenting from a symptomatic perspective,
- 40:04so some promising information that
- 40:06perhaps surveillance is going to
- 40:09improve overall survival for pancreatic
- 40:13ductal adenocarcinoma.
- 40:14So to summarize,
- 40:16then we don't do general population
- 40:18screen like we would do for colon cancer
- 40:21or even for breast cancer per say.
- 40:24We tend to focus on a high risk individuals,
- 40:27particularly looking at high risk
- 40:29individuals with germline mutations or
- 40:32familial risks and those individuals
- 40:33get a combination of mris of their
- 40:36pancreas as well as an endoscopic
- 40:38ultrasound and then it's done on
- 40:40an annual or biannual basis that
- 40:42we're beginning to accrue data.
- 40:45About the benefits of this approach.
- 40:48Pancreatic cysts I mentioned only
- 40:50because they are incredibly common,
- 40:52but do give us an opportunity to
- 40:56visualize these precancerous legions
- 40:58in a subgroup of individuals.
- 41:00And diabetes is an area of
- 41:03incredible interest right now,
- 41:04as another subgroup,
- 41:06particularly new onset diabetes,
- 41:07particularly onset diabetes,
- 41:09in individuals over the age of 50 and above,
- 41:13that may represent an opportunity
- 41:15to find pancreatic cancer early.
- 41:18Folly dust a brief plug for,
- 41:21with the help of Claire and Amy and
- 41:24her colleagues and her colleagues.
- 41:27In the counselor prevention
- 41:28group here at Yale,
- 41:29we set up a dedicated pancreatic
- 41:31cancer early detection clinic where
- 41:33we see patients with these sorts
- 41:35of concerns to see whether they are
- 41:37eligible for high risk surveillance
- 41:39or to counseling about their risk
- 41:41with relation to pancreatic cancer.
- 41:42So on that note, I'll thank you.
- 41:54So.
- 41:59So I'm going to get out of here.
- 42:02Screen stop sharing with me OK?
- 42:45Clear I'm pulling up doctor Ferrell slides,
- 42:49click them in there OK. Get out.
- 42:54Do you mind trying again? Fine no.
- 43:08Amy might need to bring them up
- 43:10on your screen if you can. Sure.
- 43:33OK, is everyone able to see that?
- 43:36If you're on you,
- 43:37you can just nod OK, great.
- 43:39So good evening everyone.
- 43:41My name's Amy Kelly.
- 43:42I am a licensed and certified
- 43:44genetic counselor from the smilow
- 43:46cancer genetics and Prevention
- 43:48program and I will be presenting
- 43:50talk that I call yes men two
- 43:52screening for men with hereditary
- 43:53breast and ovarian cancer syndrome.
- 43:55Just the caveat,
- 43:56this is only discussing men
- 43:58who are cisgender and I men who
- 44:00are transgender cisgender would
- 44:02be men who are sign Mail up,
- 44:04earth, transgender or men who
- 44:06are assigned female efforts.
- 44:07So just because it's also
- 44:09where all the information is.
- 44:11So let's dive in.
- 44:15When we talk about hereditary breast
- 44:18and ovarian cancer, sometimes the
- 44:20first thing we think about is women.
- 44:22This is something that can only impact women.
- 44:27But what's actually the case is that
- 44:30hereditary breast and ovarian cancer
- 44:33have cancer risks for women and men.
- 44:36So just to review,
- 44:38when we talk about hereditary cancer,
- 44:40anyone who attended the talk 2 weeks
- 44:42ago about overview of hereditary
- 44:44breast and ovarian cancer syndrome,
- 44:46this might look familiar to you,
- 44:49but most cancer this diagnosis
- 44:51is not hereditary.
- 44:52Most of it is we call sporadic.
- 44:54So due to random chance aging environment.
- 44:57But in some families we can see bed flags for
- 45:00hereditary cancer such as cancer diagnosis,
- 45:03add much early ages such as breast
- 45:05cancer or colon cancer diagnosis.
- 45:07Under the age of 50,
- 45:09we can see multiple relatives in one
- 45:11family with this same type of cancer
- 45:13like relatives all with breast cancer,
- 45:15for example.
- 45:16Rare cancers such as ovarian cancer,
- 45:19pancreatic cancer, or male breast cancer.
- 45:22Unusually aggressive cancers such as
- 45:24prostate cancer that has spread or
- 45:27metastasized in different parts of the body.
- 45:29One person having multiple
- 45:31different types of cancer.
- 45:33And we know that Ashkenazi or Eastern
- 45:36European Jewish individuals have a
- 45:38higher likelihood of having hereditary
- 45:39breast and ovarian cancer syndrome.
- 45:44So you may ask what causes hereditary cancer?
- 45:47What causes fried trade breast
- 45:48over in cancer syndrome?
- 45:50So if you see this and that's a gene.
- 45:53We have what we call cancer prevention
- 45:56jeans in all the cells of our body.
- 45:58We all have these jeans.
- 46:00So when we talk about hereditary
- 46:02breast and ovarian cancer would really
- 46:04talking about someone that is born
- 46:06with an inherited mutation in that
- 46:08gene which is a harmful change that
- 46:10makes that gene not work correctly?
- 46:13In someone who is born or is inherited,
- 46:15this mutation has an increased risk of
- 46:18developing certain types of cancers.
- 46:20So really it is from this single
- 46:23genetic predisposition.
- 46:24This single gene mutation that we
- 46:26can see multiple cancer risks from
- 46:29one inherited cancer predisposition.
- 46:31So when I think about hereditary
- 46:34breast and ovarian cancer,
- 46:35I really just think of it as almost
- 46:37in an umbrella term is not only
- 46:40related to breast and ovarian cancer.
- 46:43Risk is related to multiple other cancer
- 46:45risks, including female breast cancer,
- 46:47male breast cancer,
- 46:48pancreatic cancer, Melanoma,
- 46:49ovarian cancer, and prostate cancer,
- 46:51and you can see these are
- 46:53cancers that can impact them.
- 46:58One also thing is important to
- 46:59know is sometimes that there is an
- 47:01understanding that only women can inherit
- 47:03hereditary breast ovarian cancer risk,
- 47:05or only women can pass on this
- 47:07risk with their children.
- 47:08But we know that men and women can pass
- 47:11on as well as in here it hereditary
- 47:13cancer risk or single gene mutations,
- 47:15because when someone has a child we
- 47:18pass on half of our genes to both of
- 47:21our sons as well as to her daughters.
- 47:24So, knowing someone's family history
- 47:25could be very important to know.
- 47:27Whether or not someone should have
- 47:29genetic testing and whether or not
- 47:31they could be at risk of having a
- 47:33hereditary predisposition weather there.
- 47:35Whether you're a man or a woman looking at
- 47:38the whole family history cannot impacts.
- 47:41So let's talk about the specific
- 47:43cancers that we can see in men.
- 47:46So one that we can see is male breast cancer.
- 47:49As an overview,
- 47:50male breast cancer is quite rare,
- 47:52makes up only about 1% of all
- 47:54breast cancer that's diagnosed.
- 47:56It impacts one out of 830 three men,
- 47:58just as a comparison,
- 48:00breast cancer in women impacts
- 48:02about one in eight women,
- 48:03so we can see breast cancer in
- 48:06men is much less common.
- 48:08We do see a slightly higher prevalence of
- 48:11male breast cancer in African American men.
- 48:13We can we compare to other
- 48:16ethnicities such as Caucasians,
- 48:17Hispanics,
- 48:18and as well as specific Pacific Islanders.
- 48:22We see risk avail breast cancer
- 48:23as men get older.
- 48:25The average age of diagnosis
- 48:26is about 68 years old,
- 48:27alittle bit older than the
- 48:29average age of diagnosis in women.
- 48:31The average age for women to be
- 48:34diagnosed with breast cancer is about 62.
- 48:36Well,
- 48:37we also notice about male breast cancer
- 48:39is that it is more often diagnosed at a
- 48:41later stage than with breast cancer in women.
- 48:44And when I say later stage,
- 48:45I mean that it may be diagnosed
- 48:47with a larger tumor size.
- 48:49The cancer may have involved the lymph
- 48:51nodes and possibly have metastases,
- 48:52meaning that has spread to
- 48:54other parts of the body,
- 48:55such as the bones or the brain or the logs.
- 48:59Reason for this is not quite clear
- 49:01is possible that given its rarity
- 49:04there may be less of a general
- 49:06awareness among men and also of course
- 49:08for men in the general population.
- 49:10There's no annual screening that
- 49:12is recommended as is for women in
- 49:14the general population with their
- 49:16annual mammograms.
- 49:19An male breast cancer female breast
- 49:21cancer appear biologically to be similar,
- 49:23but there may be some pathological
- 49:25differences. As an example,
- 49:27one study suggests that male breast cancer
- 49:29is exclusively hormone receptor positive.
- 49:31So what that means is that hormones in
- 49:34the body, like estrogen and progesterone,
- 49:37that men and women have that
- 49:39breast cancer in men.
- 49:41These hormones almost
- 49:42exclusively are the tumor.
- 49:43Depends on these hormones to grow.
- 49:46One receptor positive breast cancer is
- 49:48the more common breast cancer in women,
- 49:50but we can sometimes see in women with
- 49:53hormone receptor negative breast cancer.
- 49:56Clearly more research is needed,
- 49:57given that it is a more rare cancer type.
- 50:03We know also about male breast cancer is
- 50:05a family history of either female or male.
- 50:08Breast cancer may impact the man's risk
- 50:10of developing breast cancer himself,
- 50:11so the risk could be up to 2 1/2
- 50:14times that of the general population.
- 50:16If a man has a family history
- 50:19of breast cancer.
- 50:20In this risk may increase if a man has
- 50:22multiple relatives with breast cancer,
- 50:25particularly breast cancer.
- 50:26That's early onset,
- 50:27meaning under the age of 50,
- 50:29and that could possibly increase a man's
- 50:32risk five times that again 5 * 1 out of 833.
- 50:37It interested meet about 20% of men
- 50:40with breast cancer have a first
- 50:42degree relative with breast cancer,
- 50:44so whether that's a man's mother,
- 50:46his sister, his father,
- 50:47so there is clearly a familial component.
- 50:49So unsurprisingly,
- 50:50when we talk about hereditary
- 50:52breast cancer in men,
- 50:53which again is caused by that
- 50:56single gene mutation.
- 50:57We not we.
- 50:58There is some studies that suggest
- 51:00that inherited gene mutations
- 51:02can be explained for up to 40%
- 51:04of all male breast cancer.
- 51:07Of course you can see this is quite a
- 51:10range and as research can be contradictory.
- 51:13But as clearly seeing male breast
- 51:15cancer alone in a family is
- 51:17indicates genetic testing 'cause
- 51:18there doesn't increase the risk
- 51:20of a hereditary predisposition.
- 51:25So the two genes and we're going to
- 51:27hear a lot about tonight are the ones
- 51:29that are the most well studied and
- 51:31are the most well associated with
- 51:34hereditary breast and ovarian cancer,
- 51:35as well as risk for men.
- 51:37They are the BRC A1 in the RCA two genes,
- 51:40more colloquially called the bracket jeans,
- 51:42men with a BRC one mutation have a
- 51:45between a 1 to 5% lifetime risk to
- 51:47develop male breast cancer and then
- 51:49with the RSA two mutation have a
- 51:515 to 10% lifetime risk to develop
- 51:53male breast cancer be RCA 2.
- 51:55I would say is the big one for men.
- 51:58The risk for men and their types of
- 52:00different types of cancer does is
- 52:02higher than that, with the RCA one.
- 52:04So even though most men with a beer same
- 52:07mutation will not develop breast cancer,
- 52:10there is a significantly increased
- 52:11risk when compared to that
- 52:13general population risk.
- 52:14Again, that one out of 833 approximately.
- 52:18There are other breast cancer
- 52:20genes that can possibly cause
- 52:22a risk of breast cancer in men.
- 52:24Those risks aren't well defined.
- 52:26We still need more studies.
- 52:28There is one another high risk gene's
- 52:30called Pal B2 that's related to high
- 52:33risk for breast cancer in women and
- 52:35two moderate risk breast cancer genes,
- 52:37called check to an ATM that possibly could
- 52:40have a role for breast cancer in men.
- 52:46So when we talk about the screening again,
- 52:48I'm going to be mainly talking
- 52:50about screening for men with
- 52:52BRC one and B RC2 mutations.
- 52:54'cause that's where most of our
- 52:56data and our guidelines are.
- 52:57But based on the national comprehensive
- 52:59cancer network or we call NCCN is where we
- 53:02get the majority of our screening guidelines.
- 53:04Men are recommended at each 35 to begin
- 53:07breast self exam training and education,
- 53:09so that could be just being aware of
- 53:11their chest wall, noticing any lumps,
- 53:13bumps changed in the nipple,
- 53:15redness of the nipple,
- 53:16and a scaly skin on the nipple
- 53:18or nipple discharge.
- 53:20In the brain,
- 53:20after their doctor and then having
- 53:22an annual clinical breast exam with
- 53:24their primary care provider at age 35,
- 53:26again to look for any changes in
- 53:29the breast tissue or chest wall.
- 53:31At this point in time,
- 53:33the NCCN guidelines is not recommend
- 53:35mammography screening for men
- 53:36unless they have gynecomastia,
- 53:38which is men have enlarged breast tissue,
- 53:40in that it would be recommended
- 53:42at age 50 or 10 years younger
- 53:44than the earliest male breast
- 53:46cancer diagnosis in the family,
- 53:48whichever comes first.
- 53:49There have been a couple more recent
- 53:52studies that have been screening
- 53:54men without gynecomastia that have
- 53:56a B or C1 or B or C2 Mutation,
- 53:58and some of that data does suggest them.
- 54:01Matt managers may be helpful
- 54:03in that population so,
- 54:05but at this point in time only
- 54:07annual mammograms are recommended
- 54:08for men with gynecomastia.
- 54:10But stay tuned and this is just
- 54:13image of a man with a B RC2 Mutation
- 54:16who underwent an annual mammogram.
- 54:21The next big cancer we talk
- 54:23about is prostate cancer.
- 54:25So prostate cancer worldwide is the
- 54:27second most common cancer and man.
- 54:29It is very common and it is
- 54:31approximately the 5th leading cause
- 54:33of cancer related death worldwide.
- 54:36One in nine men will be
- 54:38diagnosed with prostate cancer,
- 54:39so it's a very common cancer in men.
- 54:42It is more seen,
- 54:43more often seen in men who are African
- 54:45American and men who are African
- 54:47American may also be diagnosed
- 54:49with a more aggressive type of
- 54:51prostate cancer when compared to
- 54:53other men who are white or Hispanic.
- 54:55And we also see increasing age can be
- 54:58a risk factor for prostate cancer.
- 55:00The average age diagnosis,
- 55:02prostate cancers around age 66.
- 55:05Most of prostate cancer is what
- 55:07we call indolent,
- 55:08meaning that it may be asymptomatic
- 55:10if it is diagnosed and may only be
- 55:13need routine screening surveillance
- 55:15closely in the beginning and may not
- 55:17require a lot of treatment or surgery.
- 55:20However,
- 55:20prostate cancer rarely can be aggressive.
- 55:23What's used to grade the aggressive
- 55:25prostate cancer is called the Gleason score.
- 55:28And when we see a Gleason score
- 55:30of more at least seven or more,
- 55:33it indicates a more aggressive
- 55:34prostate cancer.
- 55:35So when we see a man with a Gleason score.
- 55:387 prostate cancer,
- 55:39especially if he has other
- 55:41family history of breast cancer.
- 55:43Prostate cancer, ovarian cancer.
- 55:44We can think maybe there is some
- 55:47hereditary predisposition in
- 55:48particularly metastatic prostate
- 55:49cancer in and of itself alone.
- 55:52Is does increase suspicion if
- 55:54there is a hereditary risk.
- 55:56In fact,
- 55:57one study found that 11.8% of all
- 55:59metastatic prostate cancer patients
- 56:01that were tested had a single
- 56:03genetic or inherited mutation which
- 56:06was significantly higher than men.
- 56:07Who had we call more localized prostate
- 56:10cancer, meaning it had not spread.
- 56:13To other parts of the body.
- 56:16And again with bearsley wannabe
- 56:17receipt to your, say,
- 56:19one of the risk is less well described,
- 56:21but possibly between 17 to
- 56:2323% risk over the lifetime.
- 56:24And VR say to the risk is higher
- 56:27as I mentioned before, say 2 is.
- 56:30Between bare say one in Beerse Tubular State,
- 56:33Two is the one that has higher risks for men.
- 56:37The lifetime hours could be
- 56:38between 23 is 67% lifetime risk.
- 56:42Well, we may also see with men with the beer,
- 56:45say one or two mutation is
- 56:47that particularly dark too?
- 56:48They may be diagnosed under the
- 56:50age of 65 and as we talked about,
- 56:52the average age for prostate
- 56:54cancer diagnosis is 66,
- 56:55so we may see a younger than expected ages.
- 56:59There are other hereditary cancer
- 57:01genes related to breast cancer that
- 57:03may have the risk of prostate cancer.
- 57:05However,
- 57:06that risk is not either not clear or
- 57:08if there is a risk is not well defined.
- 57:11These are two genes I mentioned
- 57:14earlier to moderate risk breast
- 57:16cancer genes called ATM in check too.
- 57:19And there are other jeans that
- 57:20are related to hereditary prostate
- 57:22cancer that actually aren't related
- 57:24to hereditary breast and
- 57:25will bring cancer at all.
- 57:27So that's why it is important
- 57:28for people to be discussing
- 57:30their family histories of cancer.
- 57:35Now, prosecutors screening for
- 57:36men with BR C1N V RC2 mutations.
- 57:38Ansi seeing guideline suggests that
- 57:40when men are 40 years old that they
- 57:44begin having an annual prostate
- 57:46specific antigen or we call PSA blood
- 57:48test as well as a digital rectal exam.
- 57:50The Rectal Exam is to mainly exam
- 57:53the prostate to see if there's any
- 57:55abnormalities and the PSA blood test is
- 57:58used to see if there's any increasing levels.
- 58:00PSA is in Janessa,
- 58:02created by normal prostate tissue
- 58:03as well as prostate cancer.
- 58:05Thinking is that if PSA is rising or is
- 58:08high in May indicate a prostate cancer,
- 58:10but neither of these tests are diagnostic.
- 58:13They are screening tests.
- 58:14There could be other explanations
- 58:16for why there is an elevated PSA.
- 58:18The only way to diagnose the prostate
- 58:20cancers through a prostate biopsy.
- 58:22And this just an image of a
- 58:24man getting a PSA blood tests.
- 58:27So really this screening or is the
- 58:29screen tests beginning at a younger age
- 58:31or used to help detect prostate cancer
- 58:33at a much earlier in treatable stage?
- 58:38Pancreatic cancer.
- 58:38I'm not going to go into much detail
- 58:41with this because I following doctor
- 58:43Ferrell who did an excellent job,
- 58:45but it should put in my 2 cents.
- 58:47So doctor girl talked about
- 58:49the RSA two mutations,
- 58:50which compared which again beer
- 58:52say to the risk life members for
- 58:55pancreatic cancer is between 4 to 8%.
- 58:57You're saying one.
- 58:58Mutations of risk appears to be elevated,
- 59:01but that exact risk is not well defined.
- 59:03It is significantly impacted by
- 59:05family history of pancreatic cancer,
- 59:07so most individuals of USA one
- 59:09and verse 18 mutations will
- 59:10not develop pancreatic cancer.
- 59:12However, if there is a family history as
- 59:15doctor Farrell discussed those with a
- 59:17with a beer stay one or B RC2 Mutation.
- 59:20Would be recommended to consider
- 59:22high risk pancreas screening as
- 59:24part of a research protocol.
- 59:25In addition,
- 59:26these other two genes doctor
- 59:28Farrell mentioned to.
- 59:29These are two genes related to
- 59:31hereditary breast cancer ATM and palb 2.
- 59:34So when we when we have an individual
- 59:36with the bear say one or two
- 59:39mutation probably 2 or ATM in a
- 59:41family history of pancreatic cancer,
- 59:43screening can be considered.
- 59:44Beginning at age 50 or 10 years
- 59:46younger than the earliest pancreatic
- 59:48cancer diagnosis in the family.
- 59:53And finally, Melanoma, so Melanoma is
- 59:55the least common type of skin cancer.
- 59:58But it does have a higher mortale.
- 01:00:00The rate and it has been increasing
- 01:00:03incidents from 2001 to 2010.
- 01:00:05It has increased by 1.6% worldwide
- 01:00:08and it hadn't even though
- 01:00:09it's the most least common.
- 01:00:11The least common skin cancer we would see.
- 01:00:15It's makes up about 73% of all
- 01:00:18skin cancer related deaths.
- 01:00:20In one in 60, three individuals in the
- 01:00:23United States will develop Melanoma.
- 01:00:25In the majority of melanomas are on the skin,
- 01:00:28though Melanoma can develop in
- 01:00:30rare places such as the eye,
- 01:00:32over 91% of melanomas are we
- 01:00:34called cutaneous on the skin,
- 01:00:35but the second most common would be
- 01:00:37of the eye called ocular Melanoma,
- 01:00:40though that is also rare.
- 01:00:43The biggest risk factors for Melanoma in
- 01:00:46the general population are fair skin,
- 01:00:48sun exposure, blistering sunburns,
- 01:00:50and tanning bed use,
- 01:00:51particularly fair skin.
- 01:00:53The incidence of Melanoma and
- 01:00:55Caucasians is about 2.3%.
- 01:00:56The risk for African American men
- 01:00:59is .1 in the men and women and the
- 01:01:03risk for Hispanic men and women
- 01:01:05is about point .5% So fair skin is
- 01:01:08a big risk factor for Melanoma.
- 01:01:14Well, we know about the essay one
- 01:01:16beer C2 is that there appears to
- 01:01:18be a higher risk of Melanoma.
- 01:01:19But really, that risk is not well defined.
- 01:01:22Will we has been a small associated
- 01:01:24risk of ocular Melanoma and
- 01:01:26individuals with the RCA two mutations?
- 01:01:29This is not been really seen in
- 01:01:32individuals of PRC one mutations.
- 01:01:34At this point in time with the other
- 01:01:37hereditary breast and ovarian cancer genes,
- 01:01:39there's not a strong
- 01:01:40Association with Melanoma.
- 01:01:41Check two is a moderate risk breast
- 01:01:43cancer gene that I mentioned that
- 01:01:45some studies have suggested Melanoma
- 01:01:47but really is not very strong
- 01:01:49Association with other hereditary
- 01:01:51breast or ovarian cancer genes.
- 01:01:55So what does N seeds and
- 01:01:57CC and recommend for men,
- 01:01:59men and women screening for Melanoma?
- 01:02:02So there's no specific guidelines that exist,
- 01:02:04partially because the risk is appears to
- 01:02:06be relatively low and is not well defined.
- 01:02:09But general Melanoma risk
- 01:02:10management is appropriate,
- 01:02:11so that would be an annual total
- 01:02:13body skin exam by dermatologist
- 01:02:15so it look over the whole body
- 01:02:17to look for any abnormal moles.
- 01:02:20And of course,
- 01:02:21a person being aware of any changes to
- 01:02:23any moles animals that are getting bigger,
- 01:02:26getting darker, having any uneven borders,
- 01:02:28and bring back to their dermatologist.
- 01:02:30And of course,
- 01:02:32avoiding excessive UV exposures
- 01:02:34wearing a hat using over S50 sunblock.
- 01:02:37And avoiding tanning beds.
- 01:02:40And from then went with a beer,
- 01:02:42see two mutation.
- 01:02:43They may consider an eye exam by an
- 01:02:45ophthalmologist as the goal is again
- 01:02:47the small version of ocular Melanoma.
- 01:02:49But this type of exam will be used to
- 01:02:52look in the back of the eye to see
- 01:02:54if ocular Melanoma ever did develop.
- 01:02:56That it was caught much earlier.
- 01:03:01So just as a summary,
- 01:03:02hereditary breast and ovarian
- 01:03:04cancer syndrome has distinct cancer
- 01:03:06risks for men, not just women.
- 01:03:08There are cancer risks for men and
- 01:03:10or manager recommendations for
- 01:03:11men who have a hereditary breast.
- 01:03:14In Newberry and cancer syndrome.
- 01:03:17And the screening.
- 01:03:18The whole point of screening and
- 01:03:20manage recommendations is to either
- 01:03:22prevent cancer or detected at a
- 01:03:25much earlier treatable stage.
- 01:03:26And I would recommend to learn
- 01:03:28about your family history.
- 01:03:30Family history can really impact
- 01:03:31screening recommendations like
- 01:03:32a pancreatic cancer screening,
- 01:03:34and also can really learn more
- 01:03:36about if other genetic testing
- 01:03:37is indicated and also inform
- 01:03:39other members of your family.
- 01:03:43So thank you everyone for attending
- 01:03:45to give any questions or comments.
- 01:03:47Feel free to hang out at the end and
- 01:03:49send me a question or if any questions
- 01:03:52come up later you can contact me at our
- 01:03:55programs email and ask away. Thank you.
- 01:04:03Alright, thank you everybody.
- 01:04:05So we have had a couple questions come in,
- 01:04:08but if the attendees want to send
- 01:04:11some more that would be great.
- 01:04:13So Doctor Abraham we had one
- 01:04:15question come in the individual
- 01:04:17asked if someone is slim.
- 01:04:20Is there always enough tissue in
- 01:04:22the stomach area to perform a deep?
- 01:04:26So there's there's a short
- 01:04:28answer in the long answer,
- 01:04:30and the short answer is that no,
- 01:04:32obviously even some of the
- 01:04:34examples that I showed these
- 01:04:36were women that were very slim.
- 01:04:38They have never been pregnant,
- 01:04:40they don't have any excess
- 01:04:43tissue in the lower abdomen.
- 01:04:45The good news is that if a woman is
- 01:04:48committed to reconstruction using her own
- 01:04:51tissues adamant against having implants,
- 01:04:53there is usually there are
- 01:04:56usually other options.
- 01:04:57My primary go to for secondary
- 01:04:59option is the inner thighs,
- 01:05:01for example,
- 01:05:02because just the way women
- 01:05:04tend to be shaped alot of women
- 01:05:07carry even that are very thin,
- 01:05:10carries some extra weight
- 01:05:11on their inner thighs,
- 01:05:13and that's an opportunity to leverage
- 01:05:16that for breast reconstruction.
- 01:05:18There's tissue in the back.
- 01:05:19There's tissue in the budget,
- 01:05:21so the so the answer is
- 01:05:24that it's complicated.
- 01:05:25And that it requires
- 01:05:26more thorough discussion.
- 01:05:27And we're almost always able
- 01:05:29to find tissue for a tissue
- 01:05:30based reconstruction for a
- 01:05:32woman that's committed to it.
- 01:05:35OK, thank you and me.
- 01:05:37We had a question come
- 01:05:38in that says if you are,
- 01:05:40if you already have prostate cancer,
- 01:05:42is it ever too late to
- 01:05:44get the genetic testing?
- 01:05:48No, if you already have prostate cancer,
- 01:05:51it is not too late to
- 01:05:53get the genetic testing.
- 01:05:54There are a couple of benefits to
- 01:05:56individuals who have who have cancer
- 01:05:59prostate cancer to have genetic testing.
- 01:06:01One is that men with more advanced
- 01:06:03prostate cancer or metastatic
- 01:06:04prostate cancer with a beer say one
- 01:06:07or two mutation may be eligible
- 01:06:09for specific therapies that are
- 01:06:11more targeted to their cancer type.
- 01:06:13So it can be benefit for their treatment
- 01:06:16and Additionally this is also added
- 01:06:18giving information to the family
- 01:06:20so someone with a cancer diagnosis.
- 01:06:22Who does have genetic testing can
- 01:06:24then provide information to their
- 01:06:26relatives to know if they need to
- 01:06:28have their own genetic testing so
- 01:06:29they can be aware of their own cancer
- 01:06:32screening management if necessary.
- 01:06:36Great and then another question for you Amy.
- 01:06:39Is there a certain age that you recommend
- 01:06:41men or boys from families with unknown
- 01:06:44BRCA Mutation pursue genetic testing?
- 01:06:47Great question. So we do not test
- 01:06:49men who are under the age of 18
- 01:06:52weaken the youngest we would ever
- 01:06:54test to someone who's 18 'cause
- 01:06:56because they're illegal adult.
- 01:06:58That being said, men with a
- 01:07:00beater say one or B RC2 mutation.
- 01:07:03We would not even begin their
- 01:07:05cancer screening until they were 35
- 01:07:07with annual clinical breast exams.
- 01:07:09So it's completely reasonable for
- 01:07:10men to wait until closer to that
- 01:07:13age when cancer screening might
- 01:07:15might impact might change their
- 01:07:17management if they were be RCA.
- 01:07:19Positive at that time.
- 01:07:20Of course.
- 01:07:21Some men who are younger want
- 01:07:22to know for any family planning
- 01:07:24and things and things like that.
- 01:07:27But of course some specially younger men.
- 01:07:29There is some considerations
- 01:07:30for getting life insurance in
- 01:07:32place prior to genetic testing.
- 01:07:34If people have concerns about that.
- 01:07:36So I would say it was a little long winded,
- 01:07:39but at least 18 completely reasonable
- 01:07:41to wait until 35 and also definitely
- 01:07:43reasonable if a man younger than 35
- 01:07:46one to have testing that was motivated
- 01:07:48specially for any family planning.
- 01:07:52Mary Ann Dr Abraham. What's the recovery
- 01:07:55period like after reconstruction?
- 01:08:00Talk about a loaded question,
- 01:08:02so it's it's really variable.
- 01:08:03I tell women and it's hard to couch,
- 01:08:06so I try to catch it in terms
- 01:08:09of time missed from work,
- 01:08:11which is also not perfect because
- 01:08:14some women don't work in women
- 01:08:16also have different types of jobs.
- 01:08:18Obviously somebody that works as a
- 01:08:21construction would have longer time out of
- 01:08:24work then somebody that has a desk job,
- 01:08:26but I tell women that have a mastectomy.
- 01:08:30Without reconstruction to expect
- 01:08:31three to four weeks out of work,
- 01:08:33women that have mastectomy with an implant
- 01:08:36reconstruction a similar time out of work,
- 01:08:38and women that have mastectomy with
- 01:08:40tissue based reconstruction more
- 01:08:42like 4 to six weeks out of work.
- 01:08:47Thank you and me,
- 01:08:48maybe you can answer this question
- 01:08:51if you had genetic testing earlier,
- 01:08:53say maybe around 2002 and had
- 01:08:55to be RCA mutation identified.
- 01:08:57Is it worth doing genetic testing
- 01:08:59again just to sort of look
- 01:09:01at maybe some of those other
- 01:09:03genes to see if there's another
- 01:09:05mutation in the different gene?
- 01:09:09Great question, it would, I would say
- 01:09:12depend on your your family history.
- 01:09:14So if the beer say two mutation
- 01:09:17was identified in 2002.
- 01:09:18If that is tracking in the family,
- 01:09:21meaning that we're finding it in everyone
- 01:09:24in your family who had breast cancer,
- 01:09:26ovarian cancer, pancreatic cancer,
- 01:09:28additional genetic testing is likely
- 01:09:30to have low yield because that's
- 01:09:32the most likely explanation for why
- 01:09:35we're seeing cancer in your family.
- 01:09:36However, in in the past 18 years,
- 01:09:39there's been.
- 01:09:40A different diagnosis of breast
- 01:09:41can assume yet another cancer
- 01:09:43that's not related to be RCA two.
- 01:09:45Or maybe this cancer history on both
- 01:09:47sides of the family, so it's unclear.
- 01:09:49Maybe the RCA two Mutation
- 01:09:51was inherited from your dad,
- 01:09:52but there's family history on your mom side.
- 01:09:55It might be reasonable to make an
- 01:09:57appointment to at least do an assessment
- 01:09:59with a genetic counselor to Detur.
- 01:10:01And if if additional genetic
- 01:10:03testing would be indicated.
- 01:10:06Great thank you and Doctor Ferrell.
- 01:10:08Should all patients who have
- 01:10:10a family history of pancreatic
- 01:10:12cancer get genetic testing.
- 01:10:20No, not not all family members.
- 01:10:22So because you know,
- 01:10:24sporadic pancreatic cancer is still the
- 01:10:27more common type when you go looking
- 01:10:30for number one probably makes about 90%.
- 01:10:34And even for individuals where we think
- 01:10:37there's some sort of familiar link,
- 01:10:39you know we still don't understand
- 01:10:42all the genetics of it. In fact,
- 01:10:45there's probably shared environmental.
- 01:10:46Either microbiome issues at play
- 01:10:48that in effect, someones risk.
- 01:10:50So it involves kind of having the
- 01:10:54discussion looking at risk factors,
- 01:10:56but the typical scenario is at least
- 01:10:59two first degree relatives related
- 01:11:01to each other who have pancreatic
- 01:11:03cancer and then your relation with
- 01:11:06them as a first degree relative
- 01:11:08would make you at increased risks
- 01:11:11for familial pancreatic cancer,
- 01:11:12and so those would be the individuals
- 01:11:15that we would typically ask for.
- 01:11:17Look for.
- 01:11:18But we also kind of are interested in.
- 01:11:22You know if there is a history
- 01:11:24of young pancreatic cancer,
- 01:11:25that's always kind of alarming when
- 01:11:27someone presents in the age of 30 or 40,
- 01:11:30because it's typically a disease that
- 01:11:32starts at the age of 60 and above.
- 01:11:35Although strictly by guidelines,
- 01:11:37we don't follow it,
- 01:11:38but it certainly kind of concerns me.
- 01:11:40Want to hear about young
- 01:11:42pancreatic cancers and families,
- 01:11:43and then for small families where there
- 01:11:45might not might not be easy to understand,
- 01:11:48or the history might not always be
- 01:11:50complete to understand in certain
- 01:11:52relatives had pancreatic cancer,
- 01:11:53or in olden times when it was just
- 01:11:55some sort of intraabdominal tumor.
- 01:11:57You know, we keep that in mind as well,
- 01:12:00and then thinking about either other cancers
- 01:12:03in the family that would push towards.
- 01:12:06Getting someone to have cancer
- 01:12:08genetic testing such as breast cancer,
- 01:12:10prostate cancer, ovarian cancer.
- 01:12:12So it's multifactorial
- 01:12:13in the decision making,
- 01:12:15but strictly speaking,
- 01:12:16it should be at least two
- 01:12:19family member for that.
- 01:12:22Although we just we just add it kind of,
- 01:12:25just as I also add that you know,
- 01:12:28per recent guidelines,
- 01:12:29as people familiar people with the
- 01:12:30newly diagnosed pancreatic cancer.
- 01:12:32So these are patients who have
- 01:12:34it are being recommended to have
- 01:12:36some form of germline testing,
- 01:12:38not just because it is treatment
- 01:12:40implications but also because
- 01:12:42around the flip side.
- 01:12:43It is implications for familial
- 01:12:45risk of pancreatic cancer.
- 01:12:49Alright, great. To add on that,
- 01:12:53I will say that NCCN guidelines
- 01:12:55that I quoted a lot they do.
- 01:12:57They do recommend that individuals
- 01:12:59who have a first degree relative
- 01:13:01with pancreatic cancer,
- 01:13:02even if there's no other family history,
- 01:13:04do consider test genetic testing.
- 01:13:06So even though having one person
- 01:13:08be relative's doctor Farrell
- 01:13:09mentioned may not qualify you for
- 01:13:11high risk pancreas screening.
- 01:13:13It may qualify you for genetic testing.
- 01:13:18Great thanks Amy.
- 01:13:20I think that's the last of the questions,
- 01:13:23so thank you to all of our speakers.
- 01:13:26This was a great evening and it was
- 01:13:28great to have everybody attend.
- 01:13:30Have a good rest of your night.