HBOC Cancer Risk Part II

October 07, 2020

Information

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.