SS EOC

Name: SS EOC
Uploaded: 2026-04-29T17:23:21.64Z
Duration: 1 h 6 min 58 s
Description: Smilow Shares | April 28, 2026 Hosted by: Dr. Veda Giri Presentations by: Amy Wiegand, MS, CGC Ellie Proussaloglou, MD Thejal Srikumar, MD, MPH

April 29, 2026

Smilow Shares | April 28, 2026

Hosted by: Dr. Veda Giri

Presentations by:

Amy Wiegand, MS, CGC

Ellie Proussaloglou, MD

Thejal Srikumar, MD, MPH

About the speakers

Thejal Srikumar, MD, MPH
Assistant Professor; Assistant Program Director, Hematology/Oncology Fellowship Program
Amy Wiegand, MS, CGC
Genetic Counselor
Ellie Proussaloglou, MD
Assistant Professor
Veda Giri, MD
Professor of Internal Medicine (Medical Oncology); Division Chief, Clinical Cancer Genetics; Director, Cancer Genetics and Prevention Program; Director, Early Onset Cancer Program

Information

ID: 14160
To Cite: DCA Citation Guide

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00:01Welcome to our,
00:03SmiloShares
00:04event for this evening.
00:06My name is Veda Geary,
00:08and, I will be the
00:09moderator for the SmiloShares
00:11event for today.
00:13This is the first in
00:14a series of SmiloShares
00:16from the Yale Cancer Center's
00:18early onset cancer program.
00:21And, we wanted this to
00:22focus on a very important
00:24topic that has been coming
00:26forward to recognition,
00:29particularly in the public and
00:31by,
00:32doctors,
00:33to really think about cancers
00:35that are happening in younger
00:37individuals.
00:38And a question that we
00:40are asked a lot is
00:41what can we do for
00:42screening for these cancers,
00:45particularly for cancers that are
00:47some of the most common
00:48cancers that we're noticing,
00:49in the population?
00:51So we decided to focus
00:52on screening for early onset
00:54breast, cancers focused on breast
00:56cancer and gastrointestinal
00:58cancers.
01:00And so we have an
01:01expert panel today who will
01:03be speaking to you
01:06regarding,
01:07factors to think about
01:08and strategies
01:10for early onset cancer screening.
01:12So I am very pleased
01:14to,
01:15reintroduce to you our panelists
01:18today.
01:20Our experts are Amy Wiegand,
01:22who is a genetic counselor
01:23from the,
01:25Yale and Smilow Cancer Genetics
01:27and Prevention Program,
01:28doctor Eli Prasaloglu,
01:30who is a breast surgeon
01:31here at,
01:32Yale Cancer Center and Smilow
01:34Cancer Hospital,
01:35and doctor Tejal Shreekumar,
01:37who is a gastrointestinal
01:39or GI medical oncologist also
01:42at Yale and Smilow Cancer
01:43Hospital.
01:44So please send any questions
01:46that you have through the
01:47chat,
01:48as the presenters are speaking.
01:50What we will do is
01:51have each presenter
01:53talk for about ten minutes
01:54or so, and then, we'll
01:56have about five minutes in
01:57between presentations
01:59so that, we can try
02:00to field some of the
02:01questions. And we'll also have
02:03some time at the end
02:04for, any final thoughts or
02:06questions as well. So
02:07at this point,
02:09I would,
02:10invite, Amy Weekand to,
02:13start her presentation. I'll stop
02:15sharing. And in the meantime,
02:16I will
02:18introduce,
02:19Amy.
02:20So Amy Wiegand is a
02:22licensed and board certified genetic
02:24counselor who graduated from the
02:25Icahn School of Medicine
02:27at Mount Sinai,
02:30in, twenty seventeen and has
02:32been a part of the
02:33Smilow Cancer Genetics and Prevention
02:35Program for almost nine years.
02:38She has seen over two
02:39thousand five hundred patients with
02:41a personal and or family
02:43history of cancer for genetic
02:45counseling,
02:46and she is passionate about
02:47cancer prevention and early detection
02:50empowered by results of genetic
02:51testing.
02:52Her research interests include
02:54alternative delivery care models and
02:57high risk pancreatic screening as
02:59well. And Amy is going
03:00to be talking about
03:02factors such as family cancer
03:04history
03:05and genetic testing, which can
03:07be very important when thinking
03:09about ways
03:10to have those, pieces of
03:12information
03:13inform who should potentially consider
03:15early cancer screening.
03:16So, Amy, thank you so
03:18much again for participating and
03:20for your presentation.
03:21Great. Thank you so much,
03:22doctor Deary. Thank you for
03:23the introduction.
03:24Good evening, everyone. I'm very
03:26happy to be giving this
03:28presentation,
03:29and I will be setting
03:30the stage for doctor Prasaloglu's
03:32and doctor Sreekumar's
03:34talks. So, essentially, what I'll
03:36be talking about today, we're
03:37gonna be talking about family
03:38history and genetic testing, focusing
03:40on key information that can
03:42guide early cancer screening.
03:45So just for the agenda,
03:46some questions I wanna answer
03:48are why do some families
03:49have more cancer than others?
03:51What is a hereditary cancer
03:53syndrome, and how are they
03:54identified,
03:55and how does family history
03:57impact risk assessment and recommendations
03:59for cancer screening at younger
04:01ages.
04:04So what causes cancer?
04:05Just as some background, the
04:07majority of cancer, almost seventy
04:09percent of cancer, is what
04:11we call sporadic.
04:12That occurs by either complete
04:14random chance or a combination
04:16of other factors, including
04:19environmental risk factors, like, for
04:21example, having a lot of
04:23sun exposure being a risk
04:24factor for skin cancer,
04:26lifestyle factors, such as tobacco
04:28use or excessive alcohol use,
04:31also the natural aging process.
04:33Aging is something that we
04:34can't change. So this is
04:36a natural process of aging
04:38or getting older can be
04:39a risk factor for cancer.
04:40And there may be other
04:41factors that are unknown, and,
04:43again, random chance can sometimes
04:45play a role in cancer
04:46development.
04:48Now twenty percent of cancer
04:49is what we call familial.
04:51That means you might see
04:52clusterings
04:53of the same cancer in
04:54one family, but we don't
04:56find one single
04:58either genetic cause or one
05:00single explanation.
05:01So we think that this
05:02could occur due to factors
05:04that families share. Families often
05:06live in the same locations,
05:07have similar environments, similar diets,
05:10and then in combination with
05:11maybe smaller genetic factors that
05:14result in this clustering
05:16or seeing the same type
05:17of cancer,
05:18in multiple people in the
05:19family.
05:22And finally, there's the smallest,
05:23portion, which is hereditary cancer
05:26that's, is caused by associated
05:28with five to ten percent
05:29of all cancer. And hereditary
05:31cancer is due to having
05:32an inherited
05:34harmful genetic change, which we
05:36call either a pathogenic variant
05:38or gene mutation.
05:41So why is collecting a
05:43family history important?
05:44Family history is a really
05:46important cancer risk assessment tool,
05:48and it can help with
05:49a few things. It can
05:50determine whether genetic testing for
05:53inherited cancer risk is indicated.
05:56It can also determine someone's
05:57personal cancer risks based on
05:59family history,
06:00and it also can determine
06:02the age to begin cancer
06:03screening as well as the
06:04strategy for cancer screening.
06:07Just to start, I'm gonna
06:08be focusing on number one
06:09to determine essentially determine whether
06:12genetic testing for inherited cancer
06:14risk is indicated.
06:17As I mentioned, most cancer
06:18is not hereditary,
06:20but there can be risk
06:21factors or red flags
06:23that could be in a
06:24person's personal or family history
06:26that could increase suspicion that
06:28the cancers could be hereditary.
06:31One thing that we see
06:32is that if we see
06:33cancer diagnosed at younger than
06:35expected ages for that cancer
06:37type,
06:38that could be suspicious that
06:39the cancer is hereditary.
06:42Just as some some examples
06:43would include colon cancer or
06:45breast cancer diagnosed under the
06:47age of fifty.
06:49We might also see several
06:51family members on the same
06:52side of the family with
06:53the same type of cancer,
06:55such as multiple people in
06:56one family with breast cancer.
06:59Also, when cancer is hereditary,
07:01certain cancers can be seen
07:02together through one single gene.
07:05So sometimes we can see,
07:06even though the cancers aren't
07:08the same type of cancer,
07:09if we see cancers like
07:10breast and ovarian cancer or
07:12colon or uterine cancer, that
07:14pattern could be suspicious of
07:15hereditary cancer risk.
07:18Ashkenazi Jewish ancestry,
07:20people who are Ashkenazi
07:21Jewish, about one in forty
07:23people who are Ashkenazi Jewish
07:24will have hereditary breast and
07:26ovarian cancer syndrome
07:28compared to about one in
07:29four hundred individuals who are
07:31not Ashkenazi.
07:32So sometimes seeing Ashkenazi Jewish
07:34ancestry
07:35in combination with
07:37breast or ovarian cancer in
07:38the family can also be
07:39suspicious.
07:41Rare cancers also might be
07:43more likely to be hereditary,
07:45such as seeing breast cancer
07:46in men or pancreatic cancer.
07:50Also, seeing one person with
07:52multiple cancer diagnoses,
07:54in in that one person.
07:55So for example, someone who
07:57is diagnosed with stomach cancer
07:58at age fifty and then
08:00colon cancer, a separate cancer
08:02at age sixty.
08:05Cancer on both sides of
08:06the body, so that could
08:07be bilateral
08:08kidney cancer or kidney cancer
08:10in both kidneys or bilateral
08:12breast cancer.
08:14Sometimes advanced cancer might be
08:16more likely to be hereditary,
08:17so specifically,
08:18stage four or metastatic prostate
08:20cancer.
08:22And finally, of course, if
08:23someone has a relative that
08:25has a known hereditary cancer
08:26syndrome,
08:28that would also be a
08:28risk factor for that person
08:30having hereditary cancer risk.
08:34So those are the risk
08:35factors that can make us
08:36suspicious that cancer could be
08:37hereditary, but how does genetic
08:39testing actually work? How does
08:41identify hereditary cancer risk?
08:43So just as some background
08:45briefly, genes can be thought
08:46of as the instruction manuals
08:48for our body. We have
08:49about twenty thousand genes in
08:51our body. They all do
08:52different jobs.
08:53Some genes, they actually determine
08:55our eye color and other
08:56factors, but then there's other
08:58genes that actually are known
08:59to prevent cancer from developing,
09:01and these can be thought
09:02of as cancer prevention genes.
09:04So you see here on
09:05the right, this is just
09:05an example of a cancer
09:07prevention gene. All the letters
09:09are DNA, the code that
09:11actually makes up the gene.
09:14And we have two copies
09:15of every single gene in
09:16our body because you get
09:17one from your mother and
09:18one from your father.
09:21So if someone has a
09:22mutation or a pathogenic variant,
09:24one way of thinking about
09:25is that that it's a
09:25spelling error, meaning that there's
09:28a change in the DNA
09:29code that does not allow
09:30that gene to work correctly.
09:32So if that gene is
09:33a cancer prevention gene and
09:35there's a mutation that causes
09:36it to not work correctly,
09:38so it can't do its
09:39job of preventing cancer, that
09:41person essentially is born with
09:43a higher risk of developing
09:44certain types of cancers.
09:48And so genetic testing or
09:49germline genetic testing,
09:51looks for inherited gene mutations
09:54that would be present in
09:55this in every single cell
09:56of a person's body.
09:59And if someone has a
10:00pathogenic or inherited gene mutation
10:02that's identified,
10:04those gene mutations can be
10:06passed on to a purse
10:07to a person's children.
10:09And so this can be
10:10really helpful because if we
10:11know someone has an inherited
10:13hereditary cancer risk, that can
10:15help clarify that person's own
10:17specific lifetime risk of cancer.
10:20And especially with hereditary cancer
10:22risk, we're much more likely
10:23to see cancers diagnosed at
10:25younger ages. So identifying hereditary
10:28risk of cancer can actually
10:30guide screening
10:31and then make management recommendations
10:33actually starting at younger ages
10:35than the general population.
10:38So how does it help?
10:40I alluded to it a
10:40little bit, but I wanna
10:41talk about some examples of
10:43hereditary cancer syndromes just to
10:45show exactly what screening entails
10:47and also to show that
10:49earlier screening can be really
10:50helpful for people with hereditary
10:52cancer syndromes.
10:54Hereditary breast and ovarian cancer
10:55syndrome is one of the
10:56most common ones that that
10:57we talk about. Some people
10:59have heard about these genes
11:00called BRCA one and BRCA
11:02two, also sometimes referred to
11:04as the BRCA genes.
11:06If someone has an inherited
11:08mutation in either BRCA one
11:09or BRCA two, there's an
11:11associated risk of breast, ovarian,
11:13pancreatic,
11:14and prostate cancer.
11:17And there's multiple different recommendations
11:18for increased cancer surveillance, and
11:20the important thing is that
11:22lot of these surveillance and
11:24prevention measures start at much
11:25younger ages.
11:27So, for example,
11:28women who are BRCA
11:30positive, meaning they have a
11:31BRCA
11:32gene mutation,
11:33they are recommended to start
11:34breast imaging with annual breast
11:36MRI starting at age twenty
11:38five as well as annual
11:40mammogram that then start at
11:41age thirty.
11:42Just for some context, the
11:43average for general population for
11:45women, mammograms are recommended to
11:47start around age forty.
11:49Additionally, because of the associated
11:51risk of ovarian cancer, there
11:52is a recommendation for risk
11:54reducing bilateral salpingo oophorectomy,
11:57which is removal of the
11:58ovaries and the fallopian tubes
12:00at around age forty. So
12:01again, another example of cancer
12:03prevention strategy at a younger
12:05age.
12:06Men are also recommended who
12:07are BRCA positive to start
12:09prostate
12:10cancer screening at a younger
12:11age, so at age forty.
12:13And other cancer screening
12:15could be considered would be
12:16pancreatic cancer screening.
12:20Another another example of a
12:21common hereditary cancer syndrome is
12:23Lynch syndrome. So it's caused
12:25by inherited mutations in one
12:27of five different genes.
12:29Lynch syndrome is associated with
12:31increased risk of colon, uterine,
12:33ovarian, pancreatic,
12:34prostate, urinary tract, as well
12:36as other different cancer types.
12:38And just to review a
12:39little bit some of the
12:40recommendations for increased cancer surveillance,
12:44people with Lynch syndrome are
12:45recommended to start colonoscopies
12:47in in their twenties
12:49or thirties.
12:50Just to get us for
12:51some context, for the general
12:53population, colonoscopy screening is recommended
12:55to start around age forty
12:57five.
12:58Also, we would recommend upper
13:00endoscopy screening starting at age
13:01thirty five.
13:03With this also recommendation for
13:05risk reducing total hysterectomy, so
13:07removal of the uterus, ovaries,
13:08and the fallopian tubes between
13:10the ages of forty five
13:11and fifty.
13:12And consideration of screening for
13:14other types of cancers such
13:15as urinary tract cancers and
13:17prostate cancers.
13:19So just to recap, genetic
13:20testing, if hereditary cancer risk
13:22is identified,
13:23that could be really helpful
13:25in determining someone's lifetime risk
13:27of cancers
13:28and also determining what screening
13:29can start at
13:31at which age. And particularly,
13:33we want we wanna start
13:34at a younger age because
13:35the goal of doing genetic
13:36testing and identifying hereditary cancer
13:38risk is to cat either
13:40catch cancer early
13:41or prevent it.
13:44Now as I mentioned, genetic
13:45testing is is a is
13:47a part of a part
13:48of, again, why family history
13:50collection is important, but
13:52especially when we identify hereditary
13:54cancer risk. But what if
13:55someone has negative genetic testing?
13:57They have a family history
13:58of cancer. They have negative
13:59genetic testing, which means that
14:01they don't have any known
14:02hereditary risk of cancer.
14:04If we go back to
14:05this prior slide of why
14:06family history collection is important,
14:09family history collection can be
14:10really helpful, again, to determine
14:12cancer risks.
14:13And also, most importantly, maybe
14:15determine age to begin cancer
14:16screening just based on family
14:18history.
14:20So how does family history
14:21can of cancer impact cancer
14:23risk and screening recommendations?
14:25So as I mentioned, family
14:26history of cancer might be
14:27associated with increased risk to
14:29develop that cancer type even
14:31with negative genetic testing in
14:33the family.
14:34What we see is that
14:35even if someone has negative
14:36or normal genetic testing, if
14:38someone's more closely related to
14:40a relative with cancer, that
14:42might have more of an
14:43impact on that person's estimated
14:44risk of cancer.
14:46So for example, if someone's
14:47mother is that has history
14:49of breast cancer,
14:50that person's own risk of
14:51breast cancer might be higher
14:53because they're more closely related
14:54to their mother
14:55as compared to if they
14:56had a first cousin with
14:58breast cancer, so more distantly
15:00related.
15:01Also, younger age to diagnosis
15:03in a family may also
15:04have a greater impact on
15:06a person's estimated risk of
15:07cancer compared to cancers diagnosed
15:10at a later age.
15:11So for example, having a
15:12relative diagnosed with breast cancer
15:14in their thirties
15:16might be related to a
15:17higher estimated risk of cancer
15:18for that person as compared
15:20to if that relative is
15:21diagnosed in their seventies.
15:24And so even with a
15:25negative genetic test result, increased
15:27cancer screening may still be
15:28recommended
15:29just based on that family
15:31history of cancer.
15:32And the important thing is
15:34that this cancer screening may
15:36be recommended to begin at
15:37a younger age in the
15:38general population
15:39if there's younger than average
15:41cancer diagnosis in the family.
15:43So for breast cancer and
15:44doctor Rasaloglu and doctor Sreekumar
15:47will discuss this in more
15:48detail, but just as a
15:49brief overview,
15:50if someone has a first
15:51degree relative with breast cancer,
15:54or, like, mother, sister, daughter,
15:56or having a a second
15:57degree relative, aunt, grandmother, or
15:59half sister,
16:01that may be associated with
16:02a higher risk of breast
16:03cancer for that individual.
16:05And particularly,
16:06if there's if if a
16:08relative is diagnosed with breast
16:09cancer at a younger than
16:11expected age,
16:12starting
16:13breast MRIs with additional breast
16:15imaging or mammograms
16:17might be recommended to begin
16:18at younger than average ages,
16:21again, depending on the age
16:22of the breast cancer diagnosis
16:24in the family.
16:26For colon cancer as well,
16:27having a first degree relative
16:29such as a parent, sibling,
16:30or child with colon cancer
16:32is associated with a higher
16:33risk to develop colon cancer
16:35when compared to the general
16:36population
16:37even with negative genetic testing.
16:39And so that's why colonoscopy
16:41surveillance is recommended starting at
16:43a younger age if someone
16:44does have a first year
16:45relative with colon cancer, usually
16:47by age forty compared to
16:49age forty five for the
16:50general population
16:52or ten years prior
16:54and then also having colonoscopies
16:56more frequently, so even as
16:58frequently as every five years.
17:01So just as a recap
17:03in terms of reviewing
17:04the family history of cancer,
17:06what things to really think
17:07about is that
17:09is of course, it can
17:10be hard to collect sometimes
17:11really detailed information about family
17:13history. But the more information
17:14you have about your family
17:15history of cancer, the better
17:17risk assessment that can be
17:18performed.
17:19I would say the most
17:20important thing is knowing what
17:22the cancer type was, if
17:23it's if possible diagnosed in
17:25a relative,
17:26and their age diagnosis.
17:27Because, again, age diagnosis, especially
17:30young age diagnosis,
17:32that can impact recommendations for
17:34earlier
17:35cancer screening.
17:37Especially if anyone's had cancer
17:38twice in the family, maybe
17:40try to figure out if
17:41it was
17:42a new cancer, so not
17:44on, prior cancer that came
17:45back or maybe it was
17:47in a different part different
17:48part of the body.
17:50And it can be hard
17:51especially thinking about family,
17:53family members, but you don't
17:54have to go, you know,
17:55extremely far back to great
17:57great great grandparents, but focus
17:59on the close relatives first,
18:00so first degree relatives,
18:02then second degree, and then
18:03third degree. And And as
18:05I said, do the best
18:06that you can. Oftentimes, family
18:08history may not be complete.
18:09Some people may not disclose
18:10diagnoses,
18:11but all you can do
18:12is really collect the information
18:13that you can and really
18:15focusing on cancer type in
18:17the family and approximate age
18:19diagnosis.
18:21So just as a summary,
18:23specific risk factors in a
18:25family of cancer can increase
18:26suspicion of hereditary cancer syndromes.
18:30Genetic testing can determine if
18:31someone has hereditary cancer risk,
18:33which then can inform their
18:35lifetime risk of cancer and
18:36cancer screening recommendations,
18:38oftentimes
18:39cancer screening starting at younger
18:41ages.
18:42In family history of cancer
18:44alone, even with negative genetic
18:45testing, may still impact the
18:47person's cancer risk estimates and
18:49screening recommendations,
18:50even possibly starting at younger
18:52ages.
18:53And collecting a detailed family
18:54history of cancer can be
18:56key in forming a personalized
18:57cancer screening and prevention plan.
19:01I'll just take a moment
19:02to highlight our team here.
19:03Doctor Geary is gonna talk
19:04a little bit more about
19:05it, but I have the
19:06privilege of working with,
19:08some very excellent providers including
19:10doctor Prasaloglu,
19:11as well as other high
19:12risk providers who see patients,
19:14a great team of genetic
19:15counselors, clinical, genetic clinical coordinators,
19:18and genetic counseling assistants, and
19:19we're able to see patients
19:21all across the state.
19:24And I now will have
19:25some time for questions, and,
19:26of course, I will be
19:27available at the end if
19:28people have any any other
19:29questions at that time.
19:31Wonderful.
19:32Thank you so much, Amy,
19:34for that really insightful presentation.
19:37And, it really does set
19:38the stage for thinking about
19:40factors,
19:41relevant to not only breast
19:43cancer and the gastrointestinal,
19:45cancers like colon cancer, but
19:47but also beyond. So when
19:49we think about cancers across
19:50the board. So,
19:53I don't actually see any
19:54questions right now, that have
19:56come through.
19:57So,
19:58we can go forward. And
19:59if anyone has any questions,
20:01even for presentations that have
20:02been,
20:04completed, please go ahead and
20:05put them in the QA
20:06or the chat, and, I
20:08will definitely bring them forward
20:10as we move along. So,
20:12thank you so much. We
20:13will now move along to
20:15our next presenter
20:17who is,
20:18doctor Eli Persologlu.
20:20And while we pull the
20:21slides up,
20:23I will, give an introduction
20:24for doctor Persologlu.
20:26Doctor Prasaloglu is an assistant
20:28professor of breast surgical oncology
20:30at Yale University,
20:33and, school of medicine and
20:34the Smilow Cancer Hospital.
20:36She's also the physician leader
20:38for high risk breast care
20:39in the cancer genetics and
20:41prevention program.
20:42She is a board certified
20:43OB GYN who graduated from
20:45the University of Chicago School
20:47of Medicine
20:48and completed her residency,
20:50training in OB GYN at
20:51Brown University
20:52and then her fellowship in
20:54breast surgery at Yale University.
20:56Doctor Prasaloglu's
20:57joint training in breast and
20:59gynecologic
21:00surgery allows for comprehensive
21:02counseling on breast cancer care,
21:04focusing on oncofertility,
21:07menopausal,
21:08care, and sexual effects of
21:10treatment.
21:11She is also a health
21:12services researcher studying decision making
21:15among high risk gene carriers,
21:17pregnancy associated cancer, quality of
21:20life, and financial toxicity.
21:22So doctor Prasaloglu will be
21:23talking about risk based breast
21:25cancer screening approach approaches and
21:27how this impacts screening for
21:28early onset breast cancer. Thank
21:30you very much, doctor Prasaloglu.
21:32Thanks so much, doctor Geary,
21:34and thanks to everyone who's
21:35listening in live as well
21:36as those who listen to
21:37our webinar recorded later.
21:39Amy, that was such a
21:40wonderful presentation and nicely teed
21:42me up for a lot
21:43of the things we'll discuss.
21:45So, when we think about
21:47breast cancer, we know that
21:48early onset breast cancer is
21:50on the rise. Here are
21:51just a couple of news
21:52postings from the past year,
21:54year and a half talking
21:55about both celebrities as well
21:57as, you know, regular people
21:59who are being diagnosed earlier
22:00and earlier with breast cancer.
22:02So, when given the opportunity
22:04to think about this problem
22:05and talk to you all
22:06today, I wanted to dive
22:07into a couple of things.
22:10The first is to review
22:11a little bit about what
22:12the current breast cancer screening
22:14recommendations are and how that
22:16has shifted over time,
22:18to talk a little bit
22:19about the subset of patients
22:20that are considered high risk,
22:22as well as to give
22:23a few case examples.
22:27So, the United States,
22:29Protective Services Task Force used
22:31to recommend screening for breast
22:33cancer in average risk women
22:35starting at the age of
22:36fifty.
22:37But just last year, they
22:38actually updated this to recommend
22:40screening beginning at the age
22:41of forty, thinking about doing
22:43that likely every two years.
22:46This brought their recommendations closer
22:48to other organizations
22:50and I will highlight here
22:51that this big organization
22:52which,
22:54takes the lead or sort
22:55of drives many insurance companies
22:57and their coverage decisions,
22:59does say we should be
23:00assessing patients with individualized risk
23:03assessments
23:04and then refer to our
23:05counselors such as Amy and
23:06her colleagues for genetic counseling
23:08and testing if warranted.
23:12Other major organizations agree.
23:14Early onset screening is very
23:16important and for years the
23:17American Society of Breast Surgeons
23:19as well as the American
23:20College of Obstetricians and Gynecologists
23:23has recommended starting screening for
23:25average risk women as young
23:27as forty and continuing that
23:29at least until age seventy
23:30five.
23:32Now, of course, our focus
23:33today is thinking about early
23:34onset cancers, which in the
23:36breast world is generally thought
23:38about as less than fifty,
23:39but I think it's an
23:40important,
23:42point here to take a
23:43take a step and remember
23:45that patients, regardless of their
23:47age, we should be making
23:49thoughtful decisions about screening
23:51even if you're on the
23:51older end of that spectrum.
23:53In fact, the American Society
23:55of Breast Surgeons recommends continuing
23:57screening until life expectancy is
23:59less than ten years. And
24:00in my practice, I tell
24:01patients, especially family members of
24:03those diagnosed with early onset
24:05breast cancer, but as long
24:07as you're healthy enough that
24:07you would do something with
24:08the information you receive from
24:10a mammogram, screening is very
24:14appropriate. So what does it
24:15mean to do risk based
24:17screening or to do formalized
24:19risk assessments?
24:20We know that a wide
24:22host of organizations, including
24:24the American College of Radiologists,
24:26the American College of Surgeons,
24:27and other groups listed there
24:29recommend doing a risk assessment
24:31no older, no later than
24:33age twenty five.
24:35And that is because by
24:36screening at forty, while we
24:38capture a large percentage of
24:39patients, we're missing patients that
24:41have personal or familial risks
24:44that significantly
24:45increase the chance of getting
24:46a breast cancer diagnosis less
24:48than age forty.
24:51Our goal here is to
24:52think critically
24:54and do risk tailored individualized
24:56care for patients. So to
24:57say, not just on broad
24:59strokes,
25:00everyone should get screening at
25:02age forty, but rather,
25:03you know, you with your
25:05personal and family history.
25:06How do we think about
25:07whether additional screening modalities beyond
25:10mammogram
25:11or earlier screening would be
25:12relevant.
25:14And so, you know, this
25:15begs the question,
25:17who is high risk? When
25:18we think about breast cancer,
25:20what does it mean to
25:20be in this high risk,
25:22breast category?
25:24And really, it it boils
25:26down to having a lifetime
25:27risk greater than about twenty
25:29percent.
25:30In contrast, the average woman's
25:32risk, and and I should
25:33have said as a caveat
25:34upfront,
25:35men and women can both
25:37get breast cancer. Certainly, we
25:38should also be thinking about
25:40gender diversity. And so when
25:41I say women, what I
25:42really mean is assigned female
25:44at birth, so people born
25:45with female reproductive organs.
25:48But the average, you know,
25:49person who's assigned female at
25:51birth, their lifetime risk is
25:52about twelve to thirteen percent.
25:54So
25:55our high risk cutoff is
25:57about double, a little bit
25:58less than that compared to
25:59other,
26:00average risk people.
26:02And so as Amy nicely
26:03highlighted,
26:05this does include people that
26:06have a family history of
26:07breast cancer.
26:10It includes individuals who have
26:11a specific genetic risk of
26:13breast cancer, such as the
26:14BRCA syndrome she mentioned.
26:18Patients who have had personal
26:20chest wall radiation. So this
26:22is not your usual chest
26:23x-ray, but actually if you've
26:24had a Hodgkin's lymphoma
26:26and had what's called mantle
26:27radiation to the chest, you're
26:29at much higher risk of
26:30cancer development
26:31even in the absence of
26:32family history.
26:35Patients who have had personal
26:37abnormal or atypical biopsies in
26:39the past,
26:41as well as a whole
26:42host of other environmental factors.
26:45And so, you know, I
26:46really like this,
26:47infographic because it helps divide
26:49out the things that we
26:51have control over and the
26:52things that we do not.
26:53So many patients that I
26:54see in my high risk
26:55clinic before cancer development
26:58and, also those that I
26:59see, you know, after cancer
27:01has been diagnosed say, well,
27:02you know, what caused this?
27:04What could I do? And
27:05unfortunately,
27:06the three main risk factors
27:08for developing a breast cancer
27:09are being born,
27:11biologically female,
27:12getting older, and your family
27:14history, none of which you
27:15have any control over.
27:17Additional things listed there include
27:19reproductive history, such as not
27:21having had children or not
27:22having breastfed children,
27:25your menstrual history, so lifetime
27:26exposure to estrogen, and the
27:28density of your breast tissue,
27:29which you have no control
27:30over.
27:31There are some modifiable risk
27:33factors that we speak to
27:34patients about such as supplemental
27:36estrogen and progesterone.
27:38There's some debate and and
27:40nuance to whether all forms
27:42increase the risk of breast
27:43cancer, so I encourage you
27:44to speak to your doctor
27:45as it's not a one
27:46size fits all. But we
27:47do know that some supplemental
27:49hormones do increase risk.
27:52You know, whether or not
27:53you breastfeed in the age
27:54of your first child modulates
27:55your risk as well as
27:56things like obesity and alcohol
27:58consumption.
28:01You can tell that this
28:02is a popular graphic. I
28:04know that Amy had it
28:05in her,
28:06in her presentation, so I
28:07won't belabor this point, but
28:09just to remind you that
28:10genetic testing and risk assessment
28:12is not the same.
28:14And when we find out
28:15that someone's high risk for
28:16whatever reason, we think about
28:18high risk breast care in
28:19two arms. We say, we
28:21wanna focus on early detection,
28:23high risk screening. So catching
28:25cancer
28:26as early as possible with
28:27regular breast exams and high
28:29risk breast imaging.
28:31But we can also think
28:32about tools for risk reduction
28:34such as medication that reduce
28:35risk or even risk reducing
28:37surgery.
28:38In that instance, we're hoping
28:40to prevent cancer from ultimately
28:42developing.
28:44And so, you know, our
28:45focus today is about screening.
28:47So, both identification of patients
28:48at high risk as well
28:50as specifics of what that
28:51screening would look like.
28:53And as Amy alluded to,
28:54many patients that are gene
28:55positive regardless of family history
28:58would qualify for early screening.
28:59So,
29:00you know, we know that
29:01many gene related breast cancers
29:03are diagnosed in one's thirties
29:05and early forties. And so
29:07waiting until forty to start
29:08screening
29:09doesn't make sense because we
29:11are likely to catch those
29:12cancers when they're larger and
29:13more aggressive.
29:15When we use patient's family
29:17history, we generally recommend starting
29:19screening about ten years younger
29:21than the earliest onset breast
29:23cancer.
29:24They'll usually no younger than
29:26twenty five.
29:27But, obviously, that's a decision,
29:29you know, to make individually
29:30with your breast team. But
29:32you can imagine if you
29:33have
29:34a a mother or a
29:35cousin or a sister who
29:37was diagnosed with breast cancer
29:39in her, you know, mid
29:40thirties, you might start screening
29:42as early as twenty five
29:43even if there's no genetic
29:45cause in your family. So
29:46that means fifteen years of
29:47screening beyond what an average
29:49risk person would get.
29:52And what is breast cancer
29:53screening? There's multiple forms. So
29:55many people have heard about
29:56mammography, which is in essence
29:58sort of a breast x-ray
29:59of sorts that works on
30:01compression to fight early cancers.
30:04Ultrasound, which is recommended for
30:06women with dense breasts or
30:07a supplemental testing if your
30:09initial mammogram is abnormal,
30:11and breast MRI, which works
30:13differently. It works based on
30:14blood flow images to find
30:16areas of early changes in
30:18the breast,
30:19including breast cancers as well
30:20as precancerous changes.
30:23Now, this is a busy
30:25table, but I show it
30:26to you just to highlight
30:28that mammogram and MRI are
30:30recommended for different genetic carriers
30:33much earlier than average risk
30:35people. So, for example, for
30:37patients with a rare syndrome
30:38called Li Fraumeni syndrome who
30:40are known to be TP
30:41fifty three positive,
30:43we actually recommend screening with
30:44MRI as early as age
30:46twenty.
30:48So when we think about
30:49patients, again, I'll I'll I'll
30:51skim through this because Amy
30:53went through it, but there
30:53are families like this one
30:55where there's lots of early
30:56onset breast cancer
30:58and we know that patients
31:00clearly meet criteria for genetic
31:02testing.
31:04In this instance, we see
31:05breast and ovarian cancers, and
31:07this is a real patient
31:08we took care of who
31:09was found to carry the
31:10BRCA one gene and started
31:12high risk screening with me
31:13at the age of diagnosis
31:15at twenty nine.
31:16But even patients with BRCA
31:18do not always have family
31:20history. And so Amy alluded
31:22to aggressive prostate cancers and
31:24pancreatic cancers.
31:25And in the same family,
31:27we see that two pancreatic
31:29cancers are what led to
31:30her testing,
31:31and she was diagnosed as
31:32a BRCA positive patient as
31:34well.
31:36But here's the important contrast.
31:38This patient,
31:39early onset breast cancer in
31:41three relatives
31:43right here,
31:44in their early fifties, as
31:45well as an ovarian cancer.
31:47She was very high risk.
31:48She had genetic testing,
31:51and her test was negative.
31:52So what do we do
31:53with that?
31:54We want to remember that
31:56we have other tools to
31:57assess patients' risk by doing
32:00a risk calculation.
32:02And, we found that this,
32:03this young woman, this forty
32:05two year old, had a
32:06lifetime risk that was nearing
32:08those of gene positive patients
32:10greater than forty percent.
32:12So, knowing her family history
32:13and doing genetic testing, even
32:15though we didn't find a
32:16gene responsible,
32:17led to initiation of MRI
32:19screening, and for this patient,
32:21ultimately surgery
32:22of a precancerous lesion.
32:24So it's important to know
32:25your history, as Amy said,
32:27and important to remember
32:29that if you are high
32:30risk, you're at risk for
32:31an earlier diagnosis of a
32:33cancer,
32:34we oftentimes recommend multimodal screening,
32:37and we can talk to
32:39you about both about different
32:40options such as ultrasound, MRI,
32:43and or mammography,
32:44as well as options for
32:45risk reduction.
32:47So with that, thank you
32:48so much for your attention,
32:49and I will turn it
32:50back over to the other
32:51panelists. I'm happy to take
32:53questions if any come through.
32:58Thank you so much, doctor
32:59Prasaloglu. That was just such
33:01an important talk when we
33:03think about
33:04marrying these factors together, in
33:06terms of risk assessment for
33:07breast cancer and how that
33:08can impact earlier, breast cancer
33:11screening for for patients.
33:14I don't see any questions
33:15that have come through the
33:16chat quite the,
33:17q and a or the
33:18chat. So, again, we can
33:19keep going forward and give
33:21the audience a chance to,
33:24think about questions. And, again,
33:25I encourage you to please
33:26put them in the chat,
33:27put them in the q
33:28and a, and, we'll be
33:30able to ask our our
33:31panelists about this. And,
33:33you know, it's just such
33:34an important topic as we
33:35think about, you know, this
33:36field. So thank you again,
33:37doctor Prasaloglu.
33:40So our,
33:41final speaker is doctor Dejal
33:44Shreekumar.
33:45And while the slides are
33:46coming up there, I'll do
33:47an introduction here. Doctor Shreekumar
33:49is an assistant professor of
33:51medicine in medical oncology
33:53and cares for patients,
33:55as part of the Center
33:56for Gastrointestinal
33:57Cancers at Smilow Cancer Hospital
33:59and Yale Cancer Center.
34:01After obtaining her undergraduate degree
34:03from Harvard, doctor Shreekumar received
34:05her medical degree from the
34:06University of South Florida
34:08and completed her residency and
34:09fellowship in oncology
34:11at Yale.
34:12Her clinical and research efforts
34:14center around caring for young
34:16adults with gastrointestinal
34:17malignancies.
34:19And doctor Sreekumar is also
34:20passionate about medical education, serving
34:23as the assistant program director
34:25for training of our fellows
34:26in our fellowship program in
34:28medical oncology.
34:29Furthermore, doctor Sreekumar is on
34:31the leadership team for the
34:32Yale early onset cancer program
34:34with long standing passion for
34:36early onset cancers.
34:38And today, doctor Sreekumar will
34:39be talking about risk based
34:41screening
34:42for gastrointestinal
34:43cancers, which are also,
34:45we're hearing more and more
34:47about in the news and,
34:48in the public.
34:49So thank you, doctor Sreekumar,
34:51for your presentation today.
34:54Thank you so much, doctor
34:55Giri. I am really honored
34:57to be speaking with you
34:58all today about,
35:00risk based strategies in GI
35:02cancers, especially for our younger,
35:06patients.
35:07So,
35:08I'll start with some quick
35:09background, and then I plan
35:11to focus my talk primarily
35:13on colorectal cancer screening since
35:15this is what we have
35:16the most evidence in.
35:18But I will also touch
35:19on pancreatic screening as well.
35:23And I just wanna make
35:24sure that we are all
35:25starting on the same page.
35:26So,
35:28when I refer to a
35:29GI cancer,
35:31I'm referring to any cancer
35:33that affects the digestive system.
35:35So any of these organs
35:36that you see here in
35:37this chart, from the esophagus
35:39and stomach and pancreas to
35:40the liver, to the large
35:42the large bowel, the small
35:43bowel,
35:44to the anal canal. So
35:46really the whole digestive system.
35:48And,
35:49as mentioned by doctor Prusalloglu,
35:52when I'm talking about early
35:53onset GI cancers for the
35:55purpose of this talk, I
35:56mean cancers that are diagnosed
35:57under the age of fifty.
36:00As doctor Giri mentioned, we've
36:02all seen on the news
36:03that we are seeing a
36:05dramatic
36:06rise in GI cancers in
36:08the early onset population,
36:10over the last few decades
36:12of increases of greater than
36:13fifty or sixty percent.
36:15And while there is a
36:17lot of focus that has
36:19been,
36:20made on colorectal cancer, which
36:22you can see here in
36:24this orange line,
36:25other GI cancers are increasing
36:27as well, like pancreatic cancer
36:29and,
36:31gastric cancer.
36:32But what's important to note
36:34is that while we have
36:36screening,
36:37recommendations
36:38from nationally for
36:40average risk adults for colorectal
36:43cancer,
36:43we don't have those screening
36:45guidelines available
36:46for other GI cancers unless
36:48you're at higher risk, which
36:49is why,
36:51knowing your risk is so
36:52important.
36:53And I think the big
36:54question a lot of us
36:55are asking and trying to
36:57research and find out is
36:58why is this happening?
37:00And it's probably a very
37:01complicated
37:02situation.
37:04It's probably an interaction between
37:06our genes,
37:07the lifestyle we live, and
37:09our environment,
37:10leading to younger and younger
37:12people getting, cancer. But we
37:13haven't quite figured it out
37:15yet. And so until we
37:17do, this becomes even more
37:18important to understand understand if
37:20and when you should start
37:21screening.
37:23So to focus on colorectal
37:25cancer screening, I'm gonna,
37:28specifically call out how your
37:30personal history, your family history,
37:32and your genetics
37:33can alter the screening recommendations.
37:36Now why do we do
37:37screening for colorectal cancer?
37:39Well, it is the second
37:41leading cause of cancer death
37:42in in men and women.
37:44However,
37:45when it is caught early,
37:46there is a really high
37:48survival rate, which is the
37:50reason why we try to
37:51be so proactive
37:52in trying to find these
37:54cancers.
37:56In discussing with your primary
37:57care doctor, you've probably heard
37:59that there are different kind
38:00different ways to screen for
38:02colorectal cancer,
38:03whether it is endoscopies
38:06or stool testing,
38:08even some imaging.
38:10And lately,
38:11we heard heard some information
38:13about how we can use
38:14blood based tests
38:15to screen for colorectal cancer
38:17as well.
38:18However, it's really important to
38:20note that if you are
38:21considered to be at a
38:22high risk of colon cancer
38:24or rectal cancer,
38:26really, you wanna stick with
38:27getting a colonoscopy
38:29because this is the best,
38:30most accurate way,
38:32for finding whether or not
38:33you have, a cancer if
38:35you're at higher risk.
38:38Now, if you are considered
38:39to be at an average
38:41risk,
38:42the USPSTF,
38:43which doctor Prusalloglu
38:45mentioned,
38:46has now changed their recommendations
38:48as of twenty twenty one
38:50to start colorectal cancer screening
38:52at the age of forty
38:53five,
38:54which is lower than the
38:55prior recommendation of age fifty.
38:57And this is in part
38:58because of these trends that
38:59we're seeing of younger people
39:01getting colorectal cancer.
39:04However,
39:05if you are at a
39:05higher risk, you may actually
39:07need to start,
39:08screening at a younger age.
39:11And I wanna be really
39:13clear that,
39:15if you are having concerning
39:17signs or symptoms, so things
39:20like blood in your stool
39:21or unexpected weight loss.
39:24We don't really think of
39:25that as,
39:26falling into the screening category
39:28anymore. If you're symptomatic,
39:30you should talk to your
39:31doctor about it right away
39:32and discuss whether or not
39:34we need to do more
39:35workup because that could be
39:36an an early sign of
39:38cancer development.
39:42One of our national organizations
39:43called the National Comprehensive Cancer
39:45Network
39:46recommends,
39:48specific screening depending on your
39:50risks, as I mentioned, personal
39:52risk, your family history risk,
39:54and, related to genetic syndrome.
39:56So, for example, if you
39:58have a personal history of
39:59certain medical conditions, such as
40:02inflammatory bowel disease,
40:04cystic fibrosis,
40:06or if you had,
40:08cancer when you were young,
40:09a different cancer when you
40:10were young that got certain
40:11chemotherapy or radiation treatments,
40:14you may be recommended to
40:15start treatment early.
40:17I'm not gonna focus on
40:18this though because if you
40:19have one of these conditions,
40:20you probably are already following
40:22with specialists who can help
40:23guide you through this.
40:26As Amy mentioned, family history
40:28is also really important for
40:29colorectal cancer screening,
40:31Particularly, if you have a
40:33first degree family member with
40:34colorectal cancer,
40:36you start screening at age
40:37forty or ten years before
40:39the first family member,
40:41had the diagnosis.
40:43But, also,
40:45even if your first degree
40:46family member had an advanced
40:48or high risk polyp or
40:50if they had lots of
40:51polyps,
40:52that could be another reason
40:54why you should start screening
40:55earlier.
40:56And so this is all
40:58the more reason why it's
40:59so important for you to
41:00know your family health history.
41:05As Amy mentioned, genetic testing
41:07might be recommended depending on
41:08your family history, and she
41:10discussed,
41:11multiple different,
41:14factors that might weigh into
41:16this, like having a younger
41:17age at diagnosis or multiple
41:19family
41:21members with cancer.
41:23And I wanted to give
41:24a couple of examples of
41:25what this might look like.
41:28Amy discussed Lynch syndrome, which
41:30we consider to be a
41:31non polyposis
41:32or a syndrome that does
41:34not have to
41:35go through the pathway of
41:36developing a lot of colon
41:38pop polyps, and I'll discuss
41:39that a little bit in
41:40more detail.
41:42And I wanted to discuss
41:43an example of what we
41:44call a polyposis syndrome as
41:46well using familial adenopenus
41:49polyposis or f a FAP
41:51as an example.
41:53So
41:53starting with Lynch syndrome.
41:56Lynch syndrome, as Amy mentioned,
41:58is a mutation
41:59in one of these mismatch
42:01repair proteins.
42:03And Amy really elegantly
42:05described how genetic information
42:08in our body is really
42:09encoded by our DNA, and
42:12you can have errors or
42:13mistakes that happen in your
42:15DNA.
42:16Proteins like the mismatch repair
42:18proteins are supposed to come
42:19in and recognize when there's
42:21a mistake and fix the
42:22mistake so that things can
42:23go about normally.
42:25However,
42:26in syndromes like Lynch syndrome,
42:29you might have a mutation
42:30in that,
42:32protein that's supposed to repair
42:33mistakes.
42:34So if you get an
42:36accumulation of these mistakes, this
42:38leads to a lot of
42:39errors and abnormalities in the
42:41cells, which eventually can lead
42:43to cancer development.
42:46So Lynch syndrome can be
42:48associated with many different cancer
42:50types as seen
42:51here.
42:52But specifically for colorectal cancer,
42:54depending on which gene is
42:56mutated,
42:56you might have an increased
42:58risk of up to sixty
42:59percent chance of getting colorectal
43:01cancer as opposed to four
43:02percent in the population.
43:04And so for this reason,
43:07the NCCN
43:08recommends specific screening,
43:10not only for colorectal cancer,
43:13but for other cancers as
43:14well that are associated with
43:15Lynch syndrome.
43:17As Amy mentioned,
43:18depending on which gene is
43:20mutated, colonoscopy might be recommended
43:22as early as age twenty
43:24five
43:25or a few years before
43:26your first family diagnosis.
43:28And upper endoscopies,
43:30which we don't have a
43:31general screening guideline for for
43:33average risk adults,
43:35would be recommended, depending on
43:36your mutation, to start at
43:38age thirty.
43:39You might be recommended
43:41to have,
43:42biopsies or have a conversation
43:44about whether or not doing
43:46surgery
43:47could reduce your risks of
43:48other types of cancers, such
43:50as endometrial cancer and ovarian
43:52cancer.
43:54Now, in terms of how
43:56can we reduce the risk
43:57of cancer if you have
43:58Lynch syndrome,
44:00a study has shown that
44:01taking aspirin
44:02can actually reduce your risks
44:04of getting colorectal cancer. And
44:06so, this is something that
44:07would be discussed if you
44:08had this diagnosis.
44:11On the other hand, an
44:12example of a polyposis syndrome,
44:14as I mentioned, is FAP.
44:17And FAP is an inherited
44:19cancer syndrome with a mutation
44:21in the APC gene.
44:23Just to give you an
44:24idea of how cancer develops
44:26in this situation,
44:29this is a graphic that
44:30shows
44:31what happens when your normal
44:33colon cells become carcinoma or
44:35cancer cells.
44:37So there are mutations
44:38in these red boxes that
44:40happen along the way that
44:41turn normal colon cells
44:43to colon polyps and eventually
44:45to cancer.
44:46And as you can see
44:48here,
44:48the first stop
44:50in that pathway is the
44:52APC gene.
44:53So if you have mutations
44:55in your APC,
44:57then that might mean that
44:58you're at a much higher
44:59risk for getting cancer.
45:03This is an example of
45:04a colonoscopy,
45:05from somebody who might have,
45:08a FAP.
45:09And you can see that
45:10there are all of these
45:12spots,
45:13all of these nodules, polyps
45:15in the colon.
45:16People who have a diagnosis
45:17of FAP can have hundreds
45:19of polyps.
45:20And
45:21because of that reason,
45:22there is almost a one
45:24hundred percent chance of developing
45:25colorectal cancer if you have
45:27FAP.
45:29For that reason,
45:31if you are diagnosed with
45:32this, there is a recommendation
45:34to surgically remove the colon
45:37and rectum
45:38usually after age eighteen.
45:40There are a couple of
45:41different ways that this can
45:42happen.
45:44You can either,
45:46have your small bowel,
45:48connected to your rectum and
45:49just remove the colon.
45:52You might have,
45:53your small bowel collect
45:55connected directly to your anal
45:57canal,
45:58or you might have your
46:00small bowel come into what
46:02is called an ostomy
46:04depending on the specifics of
46:05your condition
46:06and the risks and what
46:08is available at your hospital.
46:11FAP is also associated with
46:14other cancer risks as well,
46:16particularly cancers in the other
46:17parts of the GI tract,
46:19and thyroid, and adrenal cancer.
46:22And similarly,
46:23the NCCN
46:25recommends,
46:26screening, according to this as
46:28well to try to catch
46:29these cancers early and to
46:31help mitigate the risk.
46:32So for colorectal cancer, as
46:34I mentioned,
46:35there is a strong recommendation
46:37to have a removal,
46:39of the colon and the
46:40rectum.
46:41And even in whatever part
46:42is left behind, there's a
46:44recommendation to still screen those
46:46areas
46:47to see if there's more
46:48cancer that develops.
46:50Furthermore,
46:51for, stomach cancers and upper
46:54GI cancers,
46:55a recommendation is made to
46:56get an upper endoscopy
46:58starting as early as age
46:59twenty to twenty five,
47:01and you might be recommended
47:02to have more surgeries
47:04to remove,
47:05different areas depending on what
47:07they find.
47:09For f for patients with
47:10a FAP,
47:12screening for thyroid cancer might
47:13begin as as late as
47:15in your teenage years. So
47:17it's really important to know,
47:19whether or not someone in
47:20your family has this.
47:22And a condition called hepatoblastoma
47:24is actually found,
47:27in childhood, so in the
47:28first five years of life.
47:29So it makes it even
47:30more important.
47:33In terms of reducing your
47:34risk of, cancer with FAP,
47:38there is a medication called
47:39Solendac, which is an anti
47:41inflammatory
47:42drug, which helps to decrease
47:43the polyp risk, but still
47:45your cancer risk is extremely
47:47high, if you have FAP
47:49and if you don't have
47:50surgery. So that is the
47:50reason why it's still recommendation
47:52recommended.
47:54And just to briefly touch
47:56on pancreatic cancer screening,
47:59we have a lot fewer
48:01guidelines about what to do
48:02with pancreas cancer.
48:04But, this is,
48:06a really important
48:07topic to discuss because
48:10while pancreatic cancer only represents
48:12about three percent of cancer
48:14cases in the US, it
48:16represents over eight percent of
48:17the cancer related death
48:20cancer related deaths, and that's
48:21because there is a poor
48:22survival of of pancreatic cancer.
48:25It's often found quite late.
48:28And there is no national
48:29recommendations
48:30for
48:31overall global screening,
48:33for pancreatic cancers,
48:35at least yet.
48:37But it is recommended in
48:39some high risk individuals,
48:41specifically if there are genetic
48:43mutations, a strong family history,
48:46if you have a hereditary
48:47condition with pancreatitis
48:49or cysts.
48:50But I will focus briefly
48:52on how genetic mutations can
48:54increase,
48:55your risk of pancreas cancer
48:56and the screening.
48:59If you have a first
49:00degree family member with a
49:01pancreatic cancer,
49:03that does mean that, actually,
49:05you should consider getting genetic
49:06testing because
49:08ten to fifty percent ten
49:09to fifteen percent of people
49:10who have pancreatic cancers
49:12do have a mutation identified.
49:16Now,
49:17pancreatic cancer screening can happen
49:19through an endoscopy
49:27pancreas.
49:29And
49:30here is a brief table
49:31just to show you that
49:32depending on which gene you
49:34might have as a mutation,
49:34if you do have an
49:36if you do have an
49:37inherited cancer syndrome,
49:39pancreas screening may be recommended
49:41to begin begin as early
49:43as age thirty or as
49:44late as age fifty depending
49:47on
49:47what is,
49:48what is found.
49:51There are more studies going
49:52on to find out whether
49:53or not people can,
49:56find,
49:57pancreatic cancer screening helpful.
50:00For example, if you don't
50:01have a genetic condition,
50:02but you do have family
50:04history of pancreatic cancer and
50:06a lot of
50:07history. And there's actually a
50:09study called the CAPS five
50:10study, which is open here
50:12at Yale
50:13to help identify,
50:15individuals who might,
50:16benefit from increased screening. So
50:18please reach out if you're
50:19interested
50:20in learning more about that.
50:23So in conclusion,
50:25early onset GI cancers are
50:26on the rise, and young
50:27adults may need, early screening
50:29based on the risk factors.
50:31And it's important
50:39genetic condition that increases
50:41your risk of GI
50:42cancers,
50:43there may be certain medical
50:45or surgical options to reduce
50:46your risk.
50:48Thank you so much for
50:49your time and attention, and,
50:51I believe doctor Giry is
50:52gonna be briefly talking about
50:53the early onset cancer program,
50:55and here's a QR code
50:56if you're interested in learning
50:57more about that as well.
51:00Thank you very much, doctor
51:02Sri Kumar, for that very
51:03insightful
51:04presentation.
51:06And,
51:08we have a few minutes
51:09left for questions,
51:10and we actually had a
51:12question that came through from,
51:14an audience member,
51:16that I thought would be
51:17relevant for comment from both,
51:20Amy Wiegand from the genetic
51:21counseling experience and also doctor
51:23Shreekumar,
51:24because it's related to,
51:26an MLH one gene question,
51:29which is, you know, related
51:30to Lynch syndrome.
51:31And the question said,
51:33was asking,
51:34does a personal history of
51:35early onset,
51:38gynecologic
51:39cancer
51:40that has an m l
51:41h one deficiency
51:43due to methylation
51:45and the genetic testing is
51:46negative, does that increase the
51:48risk of a GI cancer?
51:50So thinking about, you know,
51:52is this type of, you
51:53know,
51:54testing result
51:56informative
51:57for
51:57a hereditary cancer risk? I'll,
52:00turn it over to Amy
52:01first just talking about, you
52:02know, the different types of
52:03genetic tests and and what
52:05they can kind of tell
52:05us in different ways.
52:08Yeah. That's that's a great
52:09question. So,
52:10just methylation
52:12the the MLH one methylation,
52:14that is considered to be
52:16a somatic change in the
52:17tumor itself. So if someone
52:19has Lynch syndrome,
52:21if someone has Lynch syndrome,
52:23we might see them if
52:25they have an inherited mutation,
52:27one that they're born with,
52:28and the MLH one gene,
52:30if they were to go
52:31on to develop,
52:32gynecological
52:33cancer,
52:34that gynecological
52:35cancer might be more likely
52:36to be MLH one deficient.
52:38However, methylation of MLH one
52:41is something that just occurs
52:42in the cancer itself. It's
52:43not due
52:45to an inherited
52:46gene mutation, and particularly if
52:48that person had negative genetic
52:50testing, negative germline genetic testing.
52:53Most likely what that represents
52:54is that there this was
52:55a sporadic cancer, something that
52:57occurred to, again, due to
52:58a combination of other factors.
53:00And having that MLH one
53:02deficient
53:02cancer alone
53:04with negative Lynch syndrome testing
53:06is not known to be
53:07related with to increased risk
53:09of GI cancers.
53:11Thank you very much, Amy.
53:12Doctor Sreekumar, would you like
53:13to add anything about the
53:15potential connection between cancers if
53:17it's a germline mutation?
53:19Yeah. Thank you so much,
53:21Amy.
53:22So,
53:23I totally agree. So if
53:25you have,
53:27a methylation of the MLH
53:29one gene,
53:30the other way that I
53:31like to think about this
53:32is
53:34you have almost a signal
53:37that is
53:38acquired
53:39over time that develops usually
53:41with age
53:42that is turning off your
53:43MLH one gene
53:45usually in a local area.
53:48And so it's not in
53:49every cancer every cell in
53:51the body the way that
53:52Amy had described inherited mutations
53:54are. It's acquired at a
53:56later age. So if you
53:58have a germline genetic testing
54:00that is negative,
54:01then it is unlikely
54:04to be,
54:05associated with an increased risk
54:07of a GI cancer. Of
54:08course, it's always important to
54:09know your full family history
54:11and other personal history as
54:12well to see whether or
54:13not there may be other
54:14reasons,
54:15to have an increased,
54:17risk for GI cancer,
54:19but, this one in itself,
54:21may not increase the risk.
54:23Yes. Thank you for that
54:24question.
54:25And, doctor Prasaloglu, a question
54:27that we get asked a
54:27lot is,
54:29what kind of discussions do
54:30you have in a breast
54:32cancer risk assessment,
54:34visit, with a patient?
54:36For example, what are the
54:37pros and cons of having
54:39a mammogram done for a
54:40young,
54:41individual
54:42versus some of the other
54:44imaging tests like a breast
54:45MRI, let's say? What are
54:47some of the key, topics
54:48or key pearls that you
54:49discuss in in a breast
54:50risk assessment visit when you're
54:52having these discussions?
54:53Yeah. That's a it's a
54:54great question, doctor Geary. So,
54:57you know, broadly, when I
54:58meet someone for the first
54:59time, we spend a lot
55:00of time talking about their
55:01personal and family history to
55:03try to figure out
55:05which element is driving their
55:07risk the most. For example,
55:09if they're a known gene
55:10carrier, we spend a lot
55:11of time talking about
55:13the breast cancer risk associated
55:15with that gene as well
55:16as any other associated
55:18risks with other cancers.
55:20When it comes to imaging,
55:22you know, our general guidance
55:23is that if your exam
55:25is normal, mammogram less than
55:27age thirty is really not
55:28beneficial. And people ask all
55:30the time why that is.
55:31And it's because young people
55:33tend to have very dense
55:34breast tissue where minor changes
55:37in the breast tissue that
55:38might indicate
55:40a cancer or precancer
55:42are really not able to
55:43be seen on mammogram.
55:44Now there's an important
55:46caveat here, right, which is
55:47that is assuming that someone's
55:49exam is normal.
55:50If you have a symptom,
55:52for example, you have bloody
55:54nipple discharge or your doctor
55:55feels a mass during your
55:57exam,
55:58regardless of your age, even
55:59though we might start with
56:00an ultrasound, and I'll circle
56:02back to ultrasound MRI in
56:04a minute,
56:05diagnostic mammogram is really important
56:07because it's very good at
56:09catching,
56:10what are called calcifications
56:11or little sort of,
56:14you know, calcium deposits that
56:15can indicate cancer. And that's
56:17really mammogram is really the
56:18only way we can see
56:19those.
56:20But if we did that
56:21routinely on all women in
56:23their mid twenties,
56:24we wouldn't find almost anything.
56:26Now MRI
56:28is our most detail oriented
56:30test. So for our high
56:31risk patients, it's the test
56:32that gives us the most
56:34information. But if you were
56:35sitting in front of me
56:36as a new patient, I
56:37would tell you, you know,
56:38it's very detail oriented. It's
56:40very sensitive.
56:41But it's not very specific,
56:43which means it's not the
56:43smartest test. When we do
56:45an MRI for the first
56:46time of the breast, we
56:48will see any abnormality,
56:50which can be a cancer
56:51or precancer,
56:52but in young women, it's
56:53more likely to be
56:55lactational changes, hormonal changes, or
56:57benign masses. And so that's
56:59why, you know, with each
57:00patient, we really try to
57:02think about
57:03what is your specific indication
57:05for early screening.
57:07And, you know, the MRI
57:09is really good in supplement
57:11to the mammogram beyond age
57:13thirty.
57:13But for our highest risk
57:15patients, even without that baseline
57:17mammogram, an MRI is useful
57:19since we can see cancers
57:21so very early in some
57:22of those gene positive patients.
57:25And then at a in
57:25a visit, we'll have, you
57:27know, thoughtful shared decision making
57:28about whether or not we
57:29should also be adding an
57:31ultrasound in for screening,
57:32which is usually not necessary
57:34when you do both the
57:35MRI and the mammogram,
57:36but something obviously to talk
57:37about with your individual doctor.
57:40Thank you so much. Very
57:41helpful.
57:43Another question that we are
57:44asked quite a bit is,
57:46regarding the family history information.
57:49And,
57:50sometimes that information can be
57:52challenging to know or is
57:54just unknown in a family
57:55or
57:56in one side of the
57:57family or versus another side
57:59of the family or say
58:00in relatives.
58:01So, Amy, how do you,
58:04what is your recommendation in
58:05terms of,
58:07limited knowledge of family history?
58:09And can it still be
58:10beneficial
58:11for a person to bring
58:13some information to their doctors
58:15or potentially meet with a
58:16genetic counselor?
58:18Yeah. That's a great question.
58:19I think,
58:21as I said, I think
58:22in terms of collecting family
58:23history, I think all you
58:25can do is the the
58:26best that you can. I
58:27I think we all know
58:28there can be family dynamics
58:29that can make it really
58:30challenging to get information.
58:32And the farther back you
58:33go,
58:34you may not have that
58:35information, especially if someone
58:37especially generations ago where cancer
58:39was either not discussed because
58:41it was taboo
58:42or was, possibly not diagnosed.
58:45So I think if with
58:46limited family history,
58:48sometimes even just getting ages
58:49of death could be helpful
58:50or, like, anything that maybe
58:52could be surrounding, like, maybe
58:53what caused their death that
58:54maybe could be helpful, maybe
58:56thinking about if they maybe
58:58died of, advanced cancer.
59:00I still think even if
59:01someone has a a limited
59:03family history understanding,
59:04maybe meeting with a genetic
59:06counselor could be helpful.
59:07Even though we really focus
59:08on family history of cancer,
59:10and as we've talked about,
59:11everyone's talked about this whole
59:12presentation,
59:13family history can be really
59:15important in risk assessment for
59:17genetic testing, but also,
59:19early cancer screening. It still
59:20will be helpful to me
59:21with a genetic counselor, I
59:23think, you know, regardless just
59:24because
59:25have as as a genetic
59:26counselor, what we do is
59:27we take into account what
59:28we know about your family
59:30history. We're able to make
59:31our assessment and then still
59:33discuss genetic testing options and
59:35kinda work walk walk you
59:36through what genetic testing might
59:38show, what might be recommended
59:40depending on the results. So
59:41I think at the end
59:42of the day, the best
59:43that you can do is
59:44the best that you can
59:44do with collecting family history.
59:46And if you do have
59:47family history of cancer that
59:48is either you're unsure if
59:50it's suspicious of hereditary cancer,
59:52or you don't maybe don't
59:53know a lot about it,
59:54I still think meeting with
59:55a genetic counselor could still
59:56be helpful.
59:58Absolutely. Thank you so much.
01:00:00And then one final question,
01:00:02doctor Shreekumar.
01:00:03We received so many questions,
01:00:06regarding
01:00:07what can a person do
01:00:09from a a diet standpoint,
01:00:12when we think about,
01:00:14reducing risk for cancers and
01:00:15in particular, colon cancer.
01:00:18Do you have recommendations
01:00:20or,
01:00:21sources of information that,
01:00:24are trusted, reliable sources of
01:00:26information online
01:00:27that a person can go
01:00:28to? What how how do
01:00:29you, have these discussions with
01:00:31your patients when it comes
01:00:32to diet and reducing colon
01:00:34cancer risk?
01:00:35Yes. Thank you so much,
01:00:37doctor Geary, for that question.
01:00:38So,
01:00:40you know, there have been
01:00:42large studies that have been
01:00:43done to
01:00:45look at
01:00:47what sort of diets might
01:00:49increase your risk of colon
01:00:51cancer, or
01:00:52I should say, you know,
01:00:54patients who are diagnosed with
01:00:55colon cancer are found to
01:00:56have a higher
01:00:57certain subsets of diets,
01:01:00and what might be protective
01:01:02against,
01:01:03diet. What I will say
01:01:04is that it's not diet
01:01:07alone that will influence whether
01:01:09or not you get colorectal
01:01:10cancer, and that's really important.
01:01:13But,
01:01:14it is maybe what we
01:01:15consider to be, as as,
01:01:17doctor Pasalagu had mentioned, a
01:01:19modifiable risk factor.
01:01:21So it's important to,
01:01:24avoid,
01:01:25things such as,
01:01:27eating, too much red meat
01:01:29or,
01:01:31having overconsumption
01:01:32of alcohol.
01:01:33Those are common,
01:01:36things that I will talk
01:01:37about with individuals who will
01:01:39come see me at my
01:01:40clinic.
01:01:41Also important,
01:01:43if possible, to try to
01:01:44minimize the amount of sugar
01:01:46sweetened
01:01:47beverages that, you're drinking as
01:01:49well.
01:01:50And, what we do see
01:01:51is that it seems that
01:01:53having a diet that
01:01:55is high high in, you
01:01:57know, vegetables and fruits and
01:01:59whole grains may be protective
01:02:01in this setting as well.
01:02:03So,
01:02:03what you what you eat
01:02:05really does matter.
01:02:07We think that what you
01:02:08eat can influence the healthy
01:02:10bacteria that is in your
01:02:12gut,
01:02:13which
01:02:14therefore might be leading to
01:02:16more or less inflammation
01:02:18and could be,
01:02:19you know, influencing your cancer
01:02:21risk. So really important thing
01:02:23to to think about.
01:02:25Thank you so much. Yes.
01:02:27Absolutely.
01:02:27And the American Cancer Society
01:02:29has, guidelines
01:02:31for thinking about,
01:02:33you know,
01:02:35physical activity
01:02:36and diet,
01:02:37and kind of,
01:02:38they break this down in
01:02:40in a patient friendly way.
01:02:41So that's a resource that
01:02:42that, you know, anyone can
01:02:43go to online as well.
01:02:44So,
01:02:46well, I would like to
01:02:47wrap up our Smilo shares,
01:02:49event for tonight,
01:02:51and, wanted to end by
01:02:53giving you,
01:02:55a little bit of information
01:02:56about the, two programs,
01:02:58the that you've heard about
01:03:00in in, throughout the talks
01:03:01tonight, the Yale Early Onset
01:03:03Cancer Program,
01:03:05and the Yale or and
01:03:06Smilo, cancer genetics and prevention
01:03:09program.
01:03:10The early onset cancer program
01:03:12at Yale Cancer Center and
01:03:13Smilo,
01:03:14is a dedicated team
01:03:16that is focused on addressing
01:03:18the needs of patients
01:03:20who, either have been diagnosed
01:03:22with a cancer at a
01:03:23young age,
01:03:24and also thinking about what
01:03:26supports are needed for these
01:03:27patients,
01:03:28for their families, caregivers,
01:03:30and how we can bring
01:03:32information such as tonight's Smilo
01:03:35shares,
01:03:36to the public and to
01:03:37our patients and to our
01:03:38communities
01:03:39to really help bring this
01:03:41into awareness
01:03:42and really put as much
01:03:43information in your hands as
01:03:44we possibly can. So,
01:03:47I am,
01:03:48really, excited to co lead
01:03:50this program with doctor Nancy
01:03:52Borstelmann.
01:03:53We have a terrific team,
01:03:54that is,
01:03:56we all work together to
01:03:57think about the needs of
01:03:58these patients from a clinical
01:03:59standpoint.
01:04:00How can we do more
01:04:01research to gain more insights
01:04:03about early onset cancers?
01:04:06How can we support our
01:04:07patients and families,
01:04:09in a very,
01:04:11well rounded holistic way and,
01:04:12again, from an educational
01:04:15perspective. This is the QR
01:04:16code that's here on the
01:04:17screen, regarding the early onset
01:04:19program if you'd like to
01:04:20check it out.
01:04:22And there's lots and lots
01:04:23of resources online, from our
01:04:25program and that we're continuing
01:04:26to develop.
01:04:27This is our first in
01:04:28a series of Smilo shares
01:04:30for the early onset program,
01:04:32and we will be having
01:04:33Smilo shares later this year
01:04:35focused on fertility preservation
01:04:37for individuals who have had
01:04:39a diagnosis of early onset
01:04:40cancer
01:04:41and,
01:04:42thinking about, you know,
01:04:43preserving fertility and childbearing.
01:04:46And then another Smilo shares
01:04:47focused on what are the
01:04:49support services and ways that
01:04:51we can help our patients
01:04:52and families from that psychosocial
01:04:54support standpoint
01:04:55as well. So,
01:04:57please take a look at
01:04:58our website, and,
01:04:59we'd love to hear from
01:05:00you as well.
01:05:02And then, the,
01:05:04cancer genetics and prevention program
01:05:06at Yale and Smilow
01:05:09is,
01:05:10just a a very, amazing
01:05:12team of experts,
01:05:14that includes physicians, that includes,
01:05:17genetic counselors and genetics coordinators,
01:05:20advanced practice providers.
01:05:22We see patients across the
01:05:23state of Connecticut at various
01:05:25care delivery network sites.
01:05:28And
01:05:29it's it really has been,
01:05:30important to think about bringing
01:05:32this aspect of of risk
01:05:34and risk assessment,
01:05:36family history, and genetic testing
01:05:38into this conversation
01:05:39about who should be screened
01:05:41for early onset cancers and
01:05:42how do you know that,
01:05:44that a particular individual
01:05:46really should consider that. And
01:05:48so,
01:05:49we have the information here
01:05:50for the cancer genetics and
01:05:52prevention program as well, with
01:05:54the QR code,
01:05:55and the website
01:05:57as well as a phone
01:05:57number. So anyone that had
01:05:59questions about,
01:06:01their own personal medical history,
01:06:03their family history as you've
01:06:04been hearing this information today,
01:06:06please do go ahead and
01:06:07reach out to us. We'd
01:06:08love to hear from you
01:06:08as well.
01:06:10So this concludes our SmiloShares
01:06:12event for this evening, and,
01:06:15this, in this,
01:06:17recording will actually be available
01:06:19online as well. And so
01:06:21you can,
01:06:22show this to your your
01:06:24friends, your families, your networks.
01:06:27As much as we can
01:06:28put this information in the
01:06:29hands of our communities,
01:06:31it is really to their
01:06:32benefit. And I think some,
01:06:34parting words, I would say,
01:06:36know your body,
01:06:38know your risk, and know
01:06:39if you should get screened
01:06:41because
01:06:42knowledge really is power, and
01:06:43we really wanna empower,
01:06:45all of us to to
01:06:47really think about our health
01:06:49and,
01:06:50feel that you can that
01:06:51you are supported and that
01:06:52we advocate for you. So
01:06:54thank you again, and everyone
01:06:55have a very good evening.
01:06:57Thank
01:06:58you.