Does Cancer Run in Your Family? Understanding the Genetics of Cancer

Summary

This comprehensive webinar, hosted by the Baylor College of Medicine, delves into the intricate relationship between genetics and cancer, highlighting that while cancer is genetic, it isn't always hereditary. Speakers including genetic counselors and advocates discuss hereditary cancer syndromes, the implications of BRCA mutations, and the absence of early screening for certain cancers like ovarian cancer. Key insights include understanding the difference between sporadic and hereditary cancers, assessing personal and family risks, and the importance of genetic counseling and testing. The event also sheds light on the emotional and medical impacts of these genetic insights.

Highlights

• The importance of distinguishing between somatic and germline mutations in cancer. 🧬
• BRCA mutations significantly increase risks for certain cancers, like breast and ovarian. 💡
• Genetics providers offer personalized strategies to mitigate cancer risks. 🛡️
• Only about 5-10% of cancers are hereditary, emphasizing the impact of environment and lifestyle. 🌍
• Nancy's personal story highlights the real-world impact of genetic testing and prevention. 📖

Key Takeaways

• Understanding your genetic predisposition to cancer can empower preventive measures. 🧬
• Not all cancer is hereditary, but genetic mutations can increase risk. 🔍
• Family history is crucial in assessing cancer risk. 👨‍👩‍👧‍👦
• Genetic counseling can guide individuals through testing and interpretation. 👩‍⚕️
• Awareness and early detection are vital, especially for deadly cancers like ovarian cancer. 🕵️‍♀️

Overview

This enlightening webinar offered by Baylor College of Medicine is essential for anyone interested in the intersection of genetics and cancer. Genetic counselor Tanya Eblee begins by illuminating how cancer manifests within our cells and the role genetics play. She explains the critical difference between hereditary and sporadic cancer, emphasizing that while a small percentage of cancers are hereditary, these cases necessitate careful genetic counseling and testing.

Following Tanya, Judy Karanica from Judy’s Mission Ovarian Cancer Foundation and long-term survivor Nancy Khan share valuable insights into specific cancers like ovarian cancer. Judy outlines the significant risk factors, emphasizing the lack of early screening and the vital nature of awareness, while Nancy shares her poignant journey with ovarian cancer, underscoring the power of knowing one’s genetic status.

The webinar wraps up with essential guidance on assessing personal and family cancer risks. The speakers stress the importance of genetic counseling to interpret family histories and potential genetic predispositions, which can lead to proactive healthcare decisions. By sharing these empowering stories and evidence-based strategies, participants are left with a greater understanding of how to navigate the genetic components of cancer, informed by both scientific expertise and personal narrative.

Chapters

• 00:00 - 00:30: Introduction The chapter serves as an introduction to the 'Evenings with Genetics' seminar series presented by Pilar Magoulis, a genetic counselor at Baylor College of Medicine and Texas Children's Hospital, along with Susan Fernbach. This particular session is hosted as a webinar and is focused on understanding the genetics of cancer, aptly titled 'Does Cancer Run in Your Family?' This sets the stage for a deeper exploration of genetic predispositions to cancer throughout the seminar.
• 00:30 - 35:00: Speaker 1: Tanya Eblee's Presentation This chapter features a presentation by Tanya Eblee, a seasoned genetic counselor with a background from the University of Pittsburgh. Having worked at Baylor College of Medicine since 2004, Tanya manages the adult genetic services and is pivotal in overseeing genetics clinics within several health systems, including Baylor Medicine and the Michael E. DeBakey VA Medical Center. Her professional passion lies in providing genetic counseling for cancer-related cases, which she finds particularly rewarding.
• 35:30 - 59:30: Speaker 2: Judy's Mission on Ovarian Cancer The chapter titled 'Speaker 2: Judy's Mission on Ovarian Cancer' discusses the efforts of Judy Karanica, the program manager of Judy's Mission Ovarian Cancer Foundation. Judy has been in this role for over two years and her background is in mechanical engineering. Her primary role is to promote awareness of ovarian cancer to increase early detection. One of the main programs she leads is 'Survivors Teaching Students,' a classroom presentation aimed at educating individuals on this matter. The chapter emphasizes the importance of knowledge and awareness in reducing the risk of ovarian cancer.
• 59:30 - 71:00: Speaker 3: Nancy Kahn's Personal Story The chapter focuses on Nancy Kahn's personal story, highlighting her role as a long-term survivor and advocate for ovarian cancer awareness. As a representative for Judy's Mission, Nancy shares her experiences and insights, particularly around being BRCA positive. She discusses the importance of family testing, precautions, and her journey with cancer. The chapter underscores the gratitude for her willingness to share her story.
• 71:00 - 75:00: Q&A Session The chapter titled 'Q&A Session' describes the structure of a webinar. The initial announcements include that a question and answer session will be held at the end of presentations by three speakers: Tanya, Judy, and Nancy. Tanya, a genetic counselor at Baylor College of Medicine, is mentioned as the first presenter.

Does Cancer Run in Your Family? Understanding the Genetics of Cancer Transcription

• 00:00 - 00:30 well it's just about seven o'clock so i think i'll go ahead and get started i wanted to first welcome everybody to our evenings with genetics seminar series my name is pilar magoulis i'm a genetic counselor at baylor college of medicine and texas children's hospital and so i work with susan fernbach on this series and so we're very excited to be hosting this as a webinar so the title of today's webinar is does cancer run in your family understanding the genetics of cancer
• 00:30 - 01:00 and so we will have three speakers today our first speaker is tanya eblee tanya is a graduate from the university of pittsburgh genetic counseling program and has been a genetic counselor at baylor college of medicine since 2004 she's currently the manager for the adult genetic services and oversees the baylor medicine harris health system and michael e debakey va medical center genetics clinics she finds providing genetic counseling for patients with cancer related indications to be particularly fulfilling because
• 01:00 - 01:30 through knowledge and awareness we can take steps to reduce the risk for many cancers after her presentation we will have judy karanica judy is the program manager of judy's mission ovarian cancer foundation and has been in this role for over two years she has her training in actually though in mechanical engineering and her main function is to promote awareness of ovarian cancer in an effort to increase early detection their main program for this is called survivors teaching students which is a classroom presentation for
• 01:30 - 02:00 medical and nursing students and then our third and final speaker is miss nancy khan she is a long-term survivor and long-term long-time presenter for judy's mission as an advocate for ovarian cancer awareness she is brca positive which you'll hear a little bit more about and has a lot of information about family testing precautions and cancer and is and we're so grateful that she's here to share her story with us today and so with that we will go ahead and start uh tanya's presentation
• 02:00 - 02:30 we are going to save the questions and answers for the end of all of the three presenters and so tanya's presentation will be first and then i'll come back and introduce judy who will be speaking um to you and then we'll have nancy and then we will open it up for a question and answer session at the end hello thank you for joining me for this evenings with genetics webinar i'm tanya eblee and i'm a genetic counselor with the adult genetic service at baylor college of medicine i was
• 02:30 - 03:00 invited to speak with you today about the genetics of cancer and how your family history can impact your risk to develop cancer i imagine that many of you who are joining me have some personal or family history of cancer and i say that not only because you're here to listen to this topic but also because cancer is so very common about 1.8 million people in the united states will be diagnosed with cancer this year
• 03:00 - 03:30 with the most common cancer diagnosis being breast cancer followed by cancers of the lung and bronchus and then by prostate cancer which is the leading cancer diagnosis among men not only are people frequently diagnosed with cancer but from this graph you can also see that it's one of the leading causes of death in the united states just under heart disease and for individuals who are under 65 years of age it's the number one cause
• 03:30 - 04:00 of death looking specifically at breast cancer we know that one in eight women or 12 percent of women will develop breast cancer at some point in their life similarly both men and women have a lifetime risk to develop colorectal cancer in their lifetime i'll come back to these two cancer types near the end of this webinar when i talk about genes that are related to an increased risk for breast or colorectal cancer
• 04:00 - 04:30 so i think we can all agree that cancer is common certainly more common than we would like it to be but a question i'm often asked is is cancer genetic before i get into that question let's talk a little bit about some basic genetics our genes are the instructions found in each cell of the body and these genes tell the cell and the body how to grow in function some genes give instructions that help prevent cancer
• 04:30 - 05:00 here you can see a diagram of a cell and inside that cell we have these bundles of dna the individual instructions in the dna are the genes we know that we have two copies of each gene one that comes from the mother and the other that comes from the father for many though not all hereditary cancer syndromes a person only needs one to have a mutation only needs to have one mutation in one
• 05:00 - 05:30 copy of the gene in order to have an increased risk to develop cancer another question i often hear in clinic is do i have the cancer gene it's a great question but i'd encourage you to think about it a little differently we all have genes that when they're working properly help prevent cancer it's when we have a mutation in one of these genes that we end up with an increased risk
• 05:30 - 06:00 a mutation which we sometimes refer to as a pathogenic variant is just a change in the dna sequence that causes the gene to no longer do its job in a sense you can imagine the gene was originally giving the body a message that said don't make cancer but if a mutation occurs and that gene doesn't work properly anymore then there is an increased risk for cancer however while cancer is genetic it's not
• 06:00 - 06:30 always hereditary when we think about cancer and mutations i think about somatic mutations and germline mutations the somatic mutations are changes that occur in individual cells that lead to a tumor these types of mutations are not passed through families the germline mutations are ones that are present in the egg or sperm of the parent and then they're in every cell of the
• 06:30 - 07:00 offspring this is the type of mutation that is associated with hereditary cancer syndromes these germline mutations are passed through families however these types of mutations only account for three to ten percent of cancer cases the other thing to keep in mind is that germline mutations do not guarantee that a person will develop cancer but it does put them at a higher risk than the average person
• 07:00 - 07:30 this diagram shows the different paths we see with sporadic versus hereditary cancer right now you're looking at the path for sporadic cancer imagine these pink rectangles represent a gene in the body the blue line on the gene represents damage or mutation on the gene that's related to a hereditary cancer syndrome remember when the gene is functioning properly it's giving the body instructions that help prevent cancer
• 07:30 - 08:00 when you see the thick blue line that represents a mutation that causes that copy of the gene to not work properly we start off with two copies of each gene for most people in the general population we've got two working copies as we go through life we may acquire a mutation over time if we acquire a second mutation in the same gene in the same cell we can go on to develop cancer keep in
• 08:00 - 08:30 mind though that the second mutation needs to happen in the same gene in the same cell it's almost like lightning needing to strike twice in the same spot now let's look at the path for an individual who has a hereditary cancer syndrome so you can see this one looks a little different if you look at the bottom half of the slide you can see that the individual is starting off with one copy of the gene that isn't working we've already got that one blue line if the individual acquires a
• 08:30 - 09:00 second mutation in that gene in any cell of the body then they can go on and develop cancer because somebody with a hereditary cancer syndrome only needs to accumulate one more mutation in the gene in any cell of the body the chance of developing cancer in their lifetime is higher and the age at the time of cancer onset is often lower than what you would see in the general population with those somatic changes i hope that makes sense
• 09:00 - 09:30 so here this graph shows the breakdown of sporadic familial and hereditary cancers the most common type of cancer is sporadic or random cancer that's making up that purple part of the pie chart about 70 to 75 percent of cancer is sporadic sporadic cancers are commonly diagnosed at older ages like in the 60s 70s or 80s they can be associated with environmental exposures
• 09:30 - 10:00 think for example of lung cancer and smoking and in a family with sporadic cancer there might be one or two family members with cancer typically at older ages now the next slice of the pie is the familial cancer this makes up about 20 percent of all cancers with familial cancers we might see a clustering of cancer in the family still typically at older ages but we believe there's probably a combination
• 10:00 - 10:30 of both environmental factors and genetic factors that cause cancer in these families for example maybe a family has a grandfather and an aunt and a cousin who've all had lung cancer they're all diagnosed in their 60s and their 70s but all those family members lived in the same small town we know these individuals share genes but they also share the same common environment so finally we come to
• 10:30 - 11:00 our final slice of the pie these are the hereditary cancers these make up about five to ten percent of cancer with families that have a hereditary cancer syndrome we typically see early onset cancer so i'm talking about those cancers diagnosed in the 20s 30s and 40s we see multiple generations affected with cancer we can also see patterns of cancer so for example maybe we see a family history with both
• 11:00 - 11:30 with both breast and ovarian cancer in the family or maybe colon and bladder cancer in the family with these families we are often able to identify a genetic mutation that increases the risk to develop cancer in these individuals one more thing that i want to point out about hereditary cancer syndromes is that having a hereditary cancer syndrome does not necessarily mean
• 11:30 - 12:00 a person will develop cancer likewise many people will develop cancer even though they do not have a hereditary cancer syndrome when someone does have hereditary cancer syndrome the risk for cancer will be dependent upon the penetrance of the syndrome the genetics provider will assess an individual's personal and family history to determine the likelihood that the cancer in the patient's family is associated with hereditary cancer
• 12:00 - 12:30 syndrome and to determine which genetic test if any might be most appropriate for the family all right this brings me to assessing your risk to have a hereditary cancer syndrome as you are probably aware a person's risk to develop cancer is due to many different factors these can include lifestyle environmental exposures
• 12:30 - 13:00 aging and even chance but the purpose of this talk is to focus on those factors related to your family history of cancer let's look a little more closely at the red flags you can look for in your family to get a better idea of whether you may be at risk to have a hereditary cancer syndrome the first factor to consider when thinking about risk
• 13:00 - 13:30 is the age at which an individual is diagnosed with cancer ages at the time of diagnosis increase the suspicion for hereditary cancer syndrome for example many women will be diagnosed with breast cancer in their 60s or 70s but i'm more suspicious that there could be a hereditary cancer syndrome when i see a woman with breast cancer in her 30s or 40s
• 13:30 - 14:00 rare cancers also increase suspicion that there may be a hereditary cancer syndrome in the family for example in the general population it's less common to see a man with breast cancer so when we see a patient who is male and has breast cancer or a patient who has a family member who's male with breast cancer we're more suspicious that there could be a hereditary breast cancer syndrome ovarian and pancreatic cancers also tend to be rare so when we see these cancers further
• 14:00 - 14:30 genetic evaluation is warranted having multiple different family different cancers or the same cancer twice such as bilateral breast cancer or bilateral renal cancer also can be a red flag for hereditary cancer syndrome similarly having two or more family members with the same or related types of cancer also suggests the need for further evaluation for hereditary
• 14:30 - 15:00 cancer syndrome here i have an example of a family history that looks very suspicious poor hereditary cancer syndrome this is a drawing that we call a pedigree in this drawing of the family tree the men are represented by squares and the women are drawn as circles the person seeking an evaluation
• 15:00 - 15:30 is a 35 year old woman you can see that there's an arrow pointing to the circle representing that person you can also see that several family members were young when they were diagnosed with cancer this patient has a sister who is diagnosed with breast cancer at 30 years of age and a cousin who is diagnosed with breast cancer 37 years of age there's also a paternal grandmother with breast cancer at 40.
• 15:30 - 16:00 in this family there are also two rare cancers the father with pancreatic cancer and the paternal aunt with ovarian cancer this family history is suspicious for hereditary cancer in this family history we see a couple of things we see young ages at the time of diagnosis multiple generations affect it multiple family members with similar cancers and rare cancers for the purpose of
• 16:00 - 16:30 giving a really obvious example this family history is a little more extreme than most of the family histories we see in clinic but i hope it does give you an idea of some of the things to look for in your own family the other thing i want to point out about this family history is that you'll notice that the cancer in this family comes from dad's side of the family sometimes there's the misconception that if we're talking about breast cancer we're only focused
• 16:30 - 17:00 on mom's side of the family but when it comes to hereditary cancer syndromes both sides of the family history are important a person can inherit a hereditary cancer syndrome from their mother or their father this next example is of a family history that does not look very suspicious for hereditary cancer syndrome here you see a grandmother with breast
• 17:00 - 17:30 cancer at 70 on dad's side of the family and an aunt with cervical cancer on mom's side of the family as well as a maternal grandfather with lung cancer in this family the breast cancer was not diagnosed at a young age also a lung cancer diagnosed at a relatively later age and an individual who was a smoker is more likely to be sporadic as is cervical cancer as cervical cancer
• 17:30 - 18:00 is often associated with the hpv virus okay so say after reviewing all of this you feel like you do have one or more of the red flags we've talked about and let's talk now about where you go from here if you have a family history that seems suggestive of hereditary cancer syndrome you can seek genetic counseling from a genetic counselor or medical geneticist genetic counseling
• 18:00 - 18:30 is a process to evaluate and understand a family's risk to have an inherited medical condition some of the things we hope to accomplish during the genetic counseling session include determining if genetic testing is right for you and if so which test is most appropriate we'll also discuss the benefits and limitations of genetic testing as well as the possible results of any testing
• 18:30 - 19:00 once testing is complete will help to interpret your test results and work with your physicians to plan appropriate cancer surveillance and management we'll also talk with you about what the information means for your family members in many cases having this information not only empowers you to take the steps necessary to reduce your risk it can also prevent other unnecessary testing or screening
• 19:00 - 19:30 backing up a little bit though let's talk about how we hope to accomplish these things in broad strokes these are the steps for obtaining information and analyzing a person's risk to have a hereditary cancer syndrome and to develop a cancer associated with that syndrome i'm not including the nitty-gritty steps of counseling this slide is more about the approach to understanding your risk
• 19:30 - 20:00 and the steps you can take to reduce that risk depending on your individual needs these steps might be rearranged a little but in general i find it helps to start by obtaining a good personal and family history we'll talk a little bit more about that on the next slide your genetics provider will use that information about your history to assess your risk to have a hereditary cancer syndrome we'll talk about whether genetic testing
• 20:00 - 20:30 might be right for you sometimes it might be suggested that a family member might be more be the more appropriate person to test if after discussing all the relevant considerations you decide to proceed with genetic testing you'll discuss the results of that testing with your genetics provider to better understand the implications of those results for yourself and for your family members ultimately you'll use this information
• 20:30 - 21:00 with your genetics provider and often with your other physicians to come up with a strategy of surveillance and medical management to reduce your cancer risk that works for you as i mentioned a key step is reviewing your history it can help if you think about these questions before your appointment with a genetics provider be ready to provide answers about your own personal history of cancer
• 21:00 - 21:30 if relevant such as the type of cancer or your age and your age at the time of diagnosis you will also likely be asked about your past cancer screening and management other relevant exposures or risk factors and known diagnoses known genetic diagnoses depending on the reason for your visit a woman might also be asked questions related to her estrogen exposure such as her age at the time of her first period
• 21:30 - 22:00 you'll also be asked about your family history talk with your family members about any family history of cancer the type of cancer and the age of onset of cancer make sure you ask about all types of cancer not only about breast and ovarian and colon cancers i know that those are the ones i'm focusing on today but other cancers can be important too ask if any of your family members have had genetic testing
• 22:00 - 22:30 it's also important to gather ages of unaffected family members seeing many family members who are in their 70s with no history of cancer can be much more reassuring than only seeing individuals who are in their 30s or 40s with no cancer it's possible they just didn't age old enough to develop that cancer yet if you're aware of other risk factors such as smoking it can help your genetics provider to accurately assess your risk if you can provide that information
• 22:30 - 23:00 here's a couple of additional things to keep in mind so not all families or family members have an equal degree of comfort when talking about family history also an absence of family history doesn't necessarily rule out a hereditary cancer syndrome sometimes this information can be lost or unknown over time other times there can be misattributed
• 23:00 - 23:30 paternity so some of the relationships within a family aren't exactly what we think they are and sometimes a person may be the first person in the family to have the hereditary cancer syndrome it has to start somewhere and it's possible that it started with that first person who has cancer also knowing what you don't know can be important for your genetics provider so if you know that you have limited information don't feel like you can't
• 23:30 - 24:00 seek a genetics evaluation just come prepared to talk about whatever part you do or don't know and we can try to assess your risk from there if you or a family member had genetic testing it can also be very helpful if you're able to provide a copy of that test report at the time of your genetic evaluation which brings us to genetic testing if you and your provider decide that genetic testing is a good next step for
• 24:00 - 24:30 you there are several laboratories that provide testing for hereditary cancer syndromes on this slide i've named just a few the genetic testing is essentially reading through a number of genes to look for a mutation associated with a hereditary cancer syndrome currently many tests are what we call multi-gene panels the genes included on the test could
• 24:30 - 25:00 vary slightly from panel's panel your provider can suggest the test that makes the most sense for you based on your personal and family history a good thing about panel tests is that we can look at multiple genes at the same time this can cut down on your wait time for answers and is less expensive than testing methods in the past a drawback can be that when we're looking at more genes there's a greater chance of getting surprising or uncertain results
• 25:00 - 25:30 i'll talk more about that in a moment another reason panel tests make sense is that often many different genes can't be can be associated with a single type of cancer so on this slide you can see that i have a diagram on the left with breast cancer surrounded by the names of multiple different genes mutations in any of these genes are associated with an increased risk for breast cancer using a
• 25:30 - 26:00 panel test can allow us to look for mutations in any of these genes at the same time on the flip side we know that each gene can be associated with multiple cancer types so on the right side of the screen you see a gene tp53 surrounded by the many different types of cancer that can be associated with this gene this brings me back to my point about surprises a person could for example seek a
• 26:00 - 26:30 genetic evaluation due to their family history of colon cancer and find out that their increased risk to develop ovarian and uterine cancer too other types of surprises can be harder to define such as unexpected emotional reactions to results or changes in family dynamics another consideration when thinking about testing is that when searching for something rare it can be best to start the search
• 26:30 - 27:00 with the most likely target kind of alluded to this earlier when i mentioned that you might be asked about testing family members sometimes when we see an individual who has no personal history of cancer we might suggest that testing an affected family member might be more informative often though this isn't possible people may have passed away maybe they're just not in contact or sometimes family members don't want to have testing we don't always start by testing
• 27:00 - 27:30 an individual who's had cancer so even if you have no personal history of cancer if you have a family history of cancer you might want to seek a genetics evaluation you should also be aware that when genetic testing is done the answers aren't always as concrete as we might want them to be we might want to get normal results that rule out the most common hereditary cancer syndromes or some patients even say that they would want to get positive results that
• 27:30 - 28:00 explain their history and open the door for clear recommendations for reducing risk but there's always the possibility of getting a result that falls in more of a gray zone we can find mutations in a gene that we didn't expect which give a risk for an um a different type of cancer maybe a cancer that we didn't expect based on our family history or we can find a change in a gene that isn't well known and perhaps
• 28:00 - 28:30 right now there aren't clear guidelines about what to do to reduce that risk we can also sometimes get inconclusive results meaning we found a change in a gene but we don't yet know if it's associated with an increased risk for cancer this diagram shows the spectrum of different types of results we may receive a result classified as pathogenic or likely pathogenic may be used by your
• 28:30 - 29:00 health care provider to influence your medical management on the other hand if you have a result categorized as a bus or variant of uncertain significance the clinical effect might not yet be known and your provider might use what's known about your personal history and your family history to influence your care more than they use that genetic test result
• 29:00 - 29:30 two more things to think about with regards to genetic testing for hereditary cancer syndromes are gina and the cost of testing gina is the genetic information non-discrimination act it provides protection from genetic discrimination from health insurance companies and employers however it does not apply to other types of insurers such as life insurance or long-term
• 29:30 - 30:00 disability insurance there are also some exclusions to this protection you can learn more about gina at ginahelp.org another concern people may have about another concern that people may have are about out of pocket expenses of genetic testing we've come a long way and many insurance companies now do provide coverage for genetic testing
• 30:00 - 30:30 for hereditary cancer syndromes but every person's policy is different some insurance companies might lag behind others or they might have specific rules about who can order genetic testing for example some insurance companies require that a person be seen by a genetic counselor or by a medical geneticist in order for the cost of that test to be covered like i mentioned every plan is different so if you have concerns about whether
• 30:30 - 31:00 your genetic test will be covered you can reach out to your insurance company to ask about their policy okay let's switch gears a little bit i wanted to briefly mention some examples of hereditary cancer syndromes because of the frequency of breast and colon cancer i'll focus on these two cancer types but keep in mind that other syndromes can lead to different types of cancer such as thyroid renal pancreatic and
• 31:00 - 31:30 gynecological cancers as well as melanoma just to name a few as we discussed earlier hereditary cancer syndromes account for relatively small percentage of cancer in this pie chart you see that hereditary cancer syndromes account for about five to ten percent of breast cancer these are some of the genes that are known to be associated with breast
• 31:30 - 32:00 cancer one thing i want you to notice is that in addition to breast cancer each of these genes is associated with other types of cancer so for example people with a pathogenic variant or mutation in have an increased risk for lobular breast cancer and they also have an increased risk for gastric cancer mutations in pal b2 are also associated with an increased risk for pancreatic cancer
• 32:00 - 32:30 here you can see a different type of breakdown of genes associated with breast cancer you can see that some genes are considered high-risk genes these can have a lifetime risk of breast cancer of up to 87 other genes have a more moderate risk of say 20 to 50 percent while still others have a lower or less well-defined risk your genetic provider will discuss with
• 32:30 - 33:00 you in more detail the significance of your results for example this table shows the risk for a person who was found to have a pathogenic variant in brca1 or brca2 you can see that the individual has risks for breast cancer ovarian cancer and other cancer types as laid out in this table like breast cancer colon cancer is also
• 33:00 - 33:30 largely sporadic but there are a number of well-described syndromes that increase the risk for colon cancer one example is lynch syndrome lynch syndrome is a syndrome that increases the risk for uterine and ovarian cancer as well as for colon cancer and other cancers of the digestive tract another example of a genetic condition with an increased risk for colorectal cancer is familial adenomatous polyposis
• 33:30 - 34:00 often called fap this condition can lead to hundreds of colon polyps as well as colon cancer as you can see the risk of colon cancer is substantially increased when there is a hereditary cancer syndrome in the general population the risk to develop colon cancer is about five percent the risk is increased when there's a first degree relative with early onset colon cancer but it can
• 34:00 - 34:30 be increased all the way up to around 70 percent with some lynch syndrome genes and to nearly a hundred percent with fap as i mentioned these are by no means all of the hereditary cancer syndromes that we see if you have concerns about your personal or family history of cancer you might want to seek out a genetics provider we have several genetics clinics that can provide evaluations
• 34:30 - 35:00 for hereditary cancer syndromes at baylor college of medicine we have a clinic at the michael debakey va medical center for patients who are veterans if you're a patient at the va you can ask your doctor for a consult to genetics we also have a clinic through harris health system here we see patients who live in harris county who often don't have health insurance you can ask your harris health system provider for a referral to the genetics clinic
• 35:00 - 35:30 or call the number listed on the slide for more information we also have a self-pay clinic called consultagene again you can call the number on the screen if you're interested in more information about this clinic and finally we have a baylor college of medicine genetics clinic and if you're interested in scheduling an appointment or if you'd like more information you can call the number on the screen or email us at adult genetics that's all one word adult no space genetics at bcm.edu
• 35:30 - 36:00 if you're outside of the houston area you can also find a genetics provider near you by using the find a genetic counselor link on www.nsgc.org or using the member and service locator tool that can be found at www.ac
• 36:00 - 36:30 i hope that through this webinar you've achieved a better understanding of basic genetics related to hereditary cancer syndromes what to look for in your family history to determine if you might benefit from a genetics evaluation for cancer and the next steps you can take thank you so much for your attention today great thank you so much tanya um and so
• 36:30 - 37:00 now we're going to have judy our next speaker share her screen for her presentation again we'll save all the questions for the end but you'll be able to either unmute yourself or write the questions in the chat okay judy go ahead thank you thank you let me um see if i can get my sure screen back to screen one um thank you um pilar and thank you everybody for uh indulging me my so my presentation i am with judy's mission and i my name
• 37:00 - 37:30 is julian but not uh that's not why judy's mission is judy's mission we're a local ovarian cancer foundation our main purpose is to spread awareness about ovarian cancer because as a slide says awareness is power and early detection saves life so our main goal in doing this presentation in most presentations is not so much uh the genetics portion but i did add some genetics more genetics than i normally would in a presentation but to when we have a captive audience to try
• 37:30 - 38:00 to make you aware of what to look for what to know to understand about ovarian cancer especially the signs and the symptoms and how to detect it and detect it early uh things that a lot of things in the presentation will surprise you and and and hopefully if you yourself uh feel like something you hear in my presentation or nancy's presentation applies to you or somebody you know or your family or a friend um has symptoms that that you'll react a
• 38:00 - 38:30 little earlier and and the results will be better than what you're going to find out they are based on this presentation so uh the slide here does have our website address and i'm not going to spend a lot of time talking about judy's mission nor the duty in the next slide that it's named but i will at the end of the presentation put a um file in everybody's chat that's uh got all the information nice little kind of a gift um one sheet yeah one double-sided sheet of all the information uh that you need to know to remember in
• 38:30 - 39:00 case um in your future you feel like you might be a victim of ovarian cancer so this woman judy levanthal robinson is um somebody that did unfortunately not survivor ovarian cancer and that's who her friends developed our organization in her honor but you can go on our website and read more about her i'm not going to spend time talking about us so uh judy real quick one um would you be able to put it in presentation mode real quick um yeah bottom of the um on the f on the far bottom
• 39:00 - 39:30 on the little icon next to the where you zoom um um maybe i might need to do a slideshow i'm just like can i do this oh slideshow so um thank you i'm sorry about that so the the main objective of my presentation is for any audience
• 39:30 - 40:00 to know uh and understand the risk factors if you're in a high risk group that like tanya said and i'll talk about a little in this presentation um sporadic cancer is more makes up more of the the ovarian cancer than does those with high risk factor but but if you're in a high risk group your risk can be significantly high but mainly to know the symptoms and to understand the symptoms uh which you'll find out are very um unusual and and are not actually
• 40:00 - 40:30 they're very common and so not unusual to be associated with that ovarian cancer and then to know what to do if um you do feel like you're experiencing symptoms of ovarian cancer and then i have a slide on where to get more information so i have a lot of facts and i'm going to run through them kind of quickly because they are in the sheet that i'll put in the chat for everybody but as tanya pointed out there's a lot none of the cancers that she mentioned as the most common types of cancer were
• 40:30 - 41:00 ovarian cancer and in fact ovarian cancer is only number 11 among all cancer and women not even number one among the five gynecological cancers but it is the number one most deadly among the five gynecological cancers and even uh number five most deadly among the uh all cancers and women so even though uh there are 11 or 10 other cancers more common than ovarian cancer there's only four of them that are more deadly than ovarian cancer only um i say only but about 22 000 women are
• 41:00 - 41:30 diagnosed each year with ovarian cancer about 14 000 in in the united states 14 000 women die of ovarian cancer tanya said i think she said one in eight women so about 12 of all women will have breast cancer that's a lot lower odds with ovarian cancer only about 1 in 79 or 1.3 percent of all women so like i said it's not very common and when i do talk about the symptoms
• 41:30 - 42:00 more times than not they're not ovarian cancer but we want you to be aware the average age for ovarian cancer is 60. that we do have a lot of women that will talk about that the risk factors based on age and about two-thirds of all ovarian cancer is diagnosed at stage three or for the latter stages where the um the risk of the likelihood of survival is a lot less than if it would be diagnosed
• 42:00 - 42:30 early the symptoms can be vague or not not thought of as ovarian cancer and and the symptoms can be present in the early stages in fact i work with a lot of ovarian cancer survivors and most of them were diagnosed at the latter stage and i will ask them i go in hindsight now that you know what the symptoms are were they possibly present earlier you just didn't think about them and when we talk about what they are you'll probably feel like you're in the same boat if detected early stage one ovarian
• 42:30 - 43:00 cancer survivors have a 93 survival rate for five years so why is ovarian cancer diagnosed rarely diagnosed early until about 20 to 30 percent of the time ovarian cancer is diagnosed in the early stages where the survival is much more likely one reason is there's no screening for ovarian cancer so unlike breast cancer that has a pap smear or cervical cancer sorry breast cancer it has a mammogram and cervical cancer
• 43:00 - 43:30 that has a pap smear or prostate cancer that has a psa test and a lot of the other cancers that have regular screening and everybody's encouraged to do regular screening there's no such screening for ovarian cancer the pap smear test is not a test for ovarian cancer so if you have been to your gynecologist recently and had a full gynecological workup and you're having these symptoms that you're saying it can't be anything gynecological because you had a full workup there was nothing done in that exam that would have detected ovarian cancer
• 43:30 - 44:00 uh so here's a little chart that really explains why why i do this so this um the lighter portion let's see if i can get my annotated pointer um anyway the the very light portion of the light green is sixty percent uh this is your stage three and four ovarian cancer this very very light sense uh six percent of ovarian cancer that says it's non non-stage they hadn't
• 44:00 - 44:30 they didn't determine the stage i'm predicting that's probably people with four stage ovarian cancer so third and fourth stage ovarian cancer you can see have uh on the chart that tells the survival for five years uh less than 30 percent uh in fact that very small one that they said it's not staged i'm guessing that's those were four stage ovarian cancers because uh the survival rate for five years is only 24 the very dark green is your stage one ovarian cancer so my goal for uh doing these presentations is to turn
• 44:30 - 45:00 this pie chart around and have the two-thirds portion be the the stage one ovarian cancer where ninety three percent uh survive past five years and then the medium dark is a stage two sir uh ovarian cancer so here it says by region so those um cancers that are isolated to just the ovaries of stage one and those that are isolated to the pelvic region or stage two and then those that have metastasized outside the pelvic region that's the most common time that it gets
• 45:00 - 45:30 diagnosed and like i said hopefully with presentations like this that'll get turned around so here's uh some factors i said about 1.3 percent of all women will ever be diagnosed with ovarian cancer those odds go up for people with family history and i'll talk a little bit more about that in the um genetic mutations on the next couple of slides uh nola parity of the the more menstrual cycles women has had the more higher the risk of ovarian cancer so
• 45:30 - 46:00 women that have had no children are at higher risk i already talked about the average age is 60 so women in that age range of about 55 to 65 or higher much higher risk or not much in some what higher risk um and obesity and endometriosis also increase that risk to some extent some factors that would decrease the risk of ovarian cancer certainly if you didn't have ovaries here's your risk is significantly lower and if you didn't have the fallopian
• 46:00 - 46:30 tubes again that decreases oral contraceptives so some of you that may be counter-intuitive because you know that oral contraceptives increase the risk of breast cancer however because they decrease the number of menstrual cycles oral contraceptives decrease the risk of ovarian cancer and significantly in fact in fact i was at one presentation about a year ago similar to what tanya just did where the genetic counselor said that in some cases if the patient tests positive for the
• 46:30 - 47:00 certain bronchial mutation that significantly increases the risk of ovarian cancer they'll prescribe that patient is not ready to have their ovaries removed to reduce their risk of ovarian cancer they'll prescribe the oral contraceptives full well knowing that that actually will increase that patient's risk of breast cancer but also knowing that they'll be able to catch that breast cancer at the early stage and they would not with the ovarian they would like to avoid the patient getting ovarian cancer more so even in breast cancer
• 47:00 - 47:30 also i said women that have had no children are at higher risk so women who have had children and who have breastfed those children have had fewer menstrual cycles so that would decrease the risk and then those women that have not had their fallopian tubes removed but have had their tubes tied would be a lower risk so some of the family history so if you yourself or someone in your family had a breast cancer or previous ovarian cancer or uterine or colon or colorectal
• 47:30 - 48:00 cancer those would be women that would be at higher risk and i'm not going to get into exactly the percentages and what uh you know what level of a relative would have had to have it like uh tanya would because i'm not really immersed in that um the genetic mutations brocco one and brocco two like tanya said do increase the risk of ovarian cancer relatively significantly and the lynch syndrome also and i do have a couple slides that go into a little bit more on the mutations
• 48:00 - 48:30 so uh ashkenazi jewish women women are those that are bashkin jewish descent even if they're not jewish no longer jewish but um ashkenazi jewish women a high percentage of broccoli and broccoli two positive women are ashkenazi jewish so if you're ashkenazi jewish and you haven't been tested for bronco one or two you would possibly be at a higher risk group however so we said that there were a lot of factors that would increase your risk of ovarian cancer that you're older that that you're at
• 48:30 - 49:00 higher risk if you've never had children you're at higher risk well there are plenty of um women that never had children that are that did did have children that still ended up with ovarian cancer they're younger women that have ended up with ovarian cancer and so that having your ovaries removed would decrease your risk but even without their ovaries women can develop primary peritoneal carcinoma which is a form of ovarian cancer certainly women who have ovarian cancer
• 49:00 - 49:30 once they're diagnosed the first time will almost always have their ovaries removed and they will almost always have a recurrence even without the ovaries so none of the um if you're not so if you're not in a high risk route and we'll talk about them the sporadic versus the hereditary and the or whatever all the other risk factors so if you're not in the high risk group and you're having the symptoms you can't um rule out ovarian cancer and certainly if you're in a low risk group or if you've taken uh oral contraceptives uh you
• 49:30 - 50:00 can't rule out ovarian cancer they do reduce the risk but they don't eliminate them so a little bit about the bronchitis this was a genetics um so this uh one let's turn on the left um a big portion 82 i've always been told 85 percent of of ovarian cancer is sporadic this study was uh almost 2 000 women and i looked like 82 of those women uh had no genetic mutation and about 18
• 50:00 - 50:30 cent had um had some genetic mutation of that 18 of the women that had ovarian cancer and did have some genetic mutation about 20 percent of those were other than broncos it looks like broncho1 was about a little over 50 percent of the genetic mutation ovarian cancer rocket 2 is just under it looks like 30 percent and um and all the others that mmr that mismatched uh repairs is
• 50:30 - 51:00 the lynch syndrome so that's one of the more common um so this next slide is the same as that right side of the previous slide but i've said i think connie had on her slide that the bronco one increases the risk of ovarian cancer to 40 between 40 and 60 percent of bronchitis ii uh increases the risk of ovarian cancer to about between 20 and 30 percent and all these other mutations uh those if you're you're
• 51:00 - 51:30 positive for some of these other mutations the average is about eight percent risk of ovarian cancer so these um are the four symptoms that that we want you to pay special attention the top four symptoms here the bloating it's an abdominal bloating and not about most of the survivors that i work with say that it's not just a flabby like i have a big flabby stomach but it's uh hard and then bloating and it doesn't nothing relieves it and it's urinary frequency where you feel like you might have a uti
• 51:30 - 52:00 but you don't have uti certainly pelvic or abdominal pain depending on what type of tumor what size and where it's located but that's very common and difficulty eating or feeling full eating a little bit and feeling cool quickly so these four symptoms are common to almost all ovarian cancer patients unfortunately there are symptoms that are very common to a lot of other ailments or symptoms that are very common in in most women at some point you have some
• 52:00 - 52:30 type of abdominal bloating you certainly at some point have some type of pelvic and abdominal pain when you get to my age i'm having now a lot of utis so the urinary frequency or urgency to to urinate and unfortunately i never have the last one that's not feeling full quickly but that is very common and and all of these symptoms are very common to a lot of other ailments and uh some of them are just you know just uh present in women so when i said that these symptoms might be present
• 52:30 - 53:00 early in the ovarian cancer if you're like me and like most of the survivors i work with there are symptoms that you don't think much of they're they're just common to women and so you don't talk about them in fact a lot of those survivor stories that i hear yeah they're they've gotten very severe and almost unbearable before you even mention them to the doctor so that's another reason we're doing this presentation we certainly don't want you to be afraid of every little tummy ache that it could be cancer
• 53:00 - 53:30 but on the other hand if you're having uh your stomach's bloated and then especially if it's hard and then you're exercising and everything else it doesn't may be thin but you've still got a bloated stomach and you've got this pain in the abdominal or pelvic area and you feel like you have to urinate all the time and then you're having this trouble eating and even though it's just a little bit of these symptoms but um in the next slide we'll talk about the persistence of these down here at the bottom some more symptoms of ovarian cancer that are uh not some are common but but not in
• 53:30 - 54:00 the the percentages of almost all cancer patients so some back pain fatigue um you'll hear from it from a lot of ovarian cancer patients certainly constipation depending on what where the tumor is and weight gain and weight loss but in particular those first four the bloating the abdominal pain the frequent urination and the feeling pull quickly if um those are persisting for uh two weeks or more and with no relief
• 54:00 - 54:30 or if they're occurring frequently maybe they're coming and going but several times over the course of the same month and they're unusual sometimes so you'll hear the patients say yeah i've had bloating i've had abdominal or pelvic pain i've had frequent urination and then i'm feeling full quickly but this feels different this is different or it's unusual um and certainly um you've tested for everything under the sun uti's digestive issues colorectal issues and doctors tested for everything and and none of those are present uh then we
• 54:30 - 55:00 highly recommend that these are the things you talk to your physician about have a physician do a pelvic or rectal exam to see if they feel any suspicious masses a transvaginal or pelvic ultrasound or a ct scan to see if they're they see anything and this ca125 blood test so the ca 125 blood protein says it's an irregularity but i think almost everybody has some ca 125 uh this protein in their blood the
• 55:00 - 55:30 normal level for it i've heard 32 35 so we'll say 35 if the ca125 is higher than 35 statistically it's been shown about 50 percent of the time that is over that's an indication of ovarian cancer 50 percent of the time there's other um elements that would cause that to be elevated but if uh you're having these uh symptoms of bloating the frequent urination the uh pain in the pelvic and abdominal area
• 55:30 - 56:00 and the feeling real quickly and then you've been having them for uh persistently for a period of a couple of weeks and you've had them been tested for all the other possibilities that that could explain those and especially if the doctor has uh perceived a mass during the pelvic or the rectal exam and they've seen something on the ultrasound or the ct scan and also the ca125 is elevated then that should be a big big red flag and you should recommend that your doctor refer you to
• 56:00 - 56:30 a oncologist so this is a specialty field of oncology where this particular oncologist has had extra years of training specifically in the gynecological cancers and this is the your best bet if this is your situation that's going to be your best bet for survival with uh ovarian cancer so um these are a few other resources um i guess this will be recorded i don't know i would screenshot this page if i was uh if i was you that um although sorry for taylor i
• 56:30 - 57:00 do have a competitor name up there that we work closely with um our website is on their judy's mission ocra ovarian cancer research alliance is the national organization that actually devised the survivors teaching students program which is uh powerpoint very similar i took a lot of their slides for this powerpoint and so we were there we're kind of there for the survivor teaching students program where their facilitator here in the
• 57:00 - 57:30 houston area but they do have a lot of great information on their website about ovarian cancer in general uh in the occ of national ovarian cancer coalition their website's real easy they're the one that got just ovarian.com and they do have a whole lot of really good information and hopefully it never happens but if you or anyone you know is ever diagnosed with ovarian cancer they have guides on the whole booklet on um if you're newly diagnosed and then all sorts of other information that's
• 57:30 - 58:00 really good and certainly the american cancer society has all sorts of very good useful information on all sorts of things so that was really quick i'm gonna just uh hand it over to nancy and one right when nancy starts talking i'm gonna put a file in your chat so if you could um at some point load that file onto your computer that's kind of our little gift to you but it also because i talked very fast that has a lot of the same information in that so with that i'm going to
• 58:00 - 58:30 say thank you and i'm going to see if i can look nancy does not have a slideshow so nancy if you can turn on your camera your video i will spotlight you all right okay great all righty good let me spotlight and i'll save everybody okay everybody this is nancy hi hi my name is nancy khan
• 58:30 - 59:00 and i was diagnosed 16 years ago with stage 4 ovarian cancer i've had three recurrences since then i'm what my cancer doctor calls an outlier because less than 40 percent of women diagnosed with ovarian cancer are alive five years later and i think it's actually more like 30 less than 30 percent uh i think that's what judy said um but anyway at the time of my diagnosis i lived in central california which is a large farming area
• 59:00 - 59:30 i had only one serious health problem which i've been dealing with since childhood and that was depression it was well controlled with medication so i only saw my general practitioner once a year and that was to get a renewal on my antidepressants and also to have a well woman exam including a pap smear about three months after my well woman examined pap smear i started to have symptoms of what was eventually diagnosed as ovarian cancer
• 59:30 - 60:00 i mentioned this because since i started to have symptoms because the main tumor was so large by that time that it was pressing against my bladder and my bowel so i do feel like when i had the pap smear you know i already had ovarian cancer but of course the pap smear came back just fine because i didn't have cervical cancer and unfortunately there's no early screening for ovarian cancer i'm just going to go over my symptoms quickly but my main symptoms were i was
• 60:00 - 60:30 having a really bad problem with severe constipation which did not respond to any normal measures anybody would take for this problem such as taking over-the-counter laxatives drinking more water eating more fiber eating more fruits and vegetables all the things we all know to do nothing was happening was helping me and that was because the tumor it turned out later when we finally when i was
• 60:30 - 61:00 diagnosed six months later turned out this tumor was pressing against my bowel and eventually compressed it to one-third the size it should have been uh but you know at the time i thought it was just a bad problem with constipation i was also very bloated but i again i attributed this to the fact that i just couldn't go to the bathroom um i was losing some weight but it wasn't a great deal of weight i lost about eight pounds in six months i had always been slender i went from 120
• 61:00 - 61:30 pounds to about i mean 128 to about 120 and it wasn't an alarming weight loss and i really wouldn't have even noticed it except my doctor pointed out i was also feeling full very quickly but again i just attributed this to the fact that when you're constipated you really aren't don't get at least i don't get very hungry so again i just figured that was the reason i was feeling full so quickly um my doctor thought
• 61:30 - 62:00 i had irritable bowel syndrome and i thought i probably had that too for the first time i really had only gone to the doctor once a year i was unusually healthy except for this problem with depression and it was well controlled and part of the reason i only i really didn't get sick very often i went for years without even getting a cold so for the first time i went to my doctor three times in six months and the third time i went there i said to him
• 62:00 - 62:30 you know you can see from my records i've never come in i've never been here more than once a year but now i feel very badly about five days out of seven so i said could i just get the medication for irritable bowel syndrome since that's what he thought i had that's what i thought i had he said he couldn't give me the medication unless i had some tests so i had a pelvic ultrasound and um you know he felt my abdomen and it felt very hard and he recommended a pelvic ultrasound
• 62:30 - 63:00 and then a few days later i had a cat scan the test showed that i had a very large tumor that had started on one ovary and had grown across my abdomen and was pressing against my bowel by the time i had this test six months into when i first had symptoms the tumor the main mass in my abdomen was nine inches by five inches which was half the size of the infant i had given birth to when i was 25 she was 18 inches
• 63:00 - 63:30 long the the tumor like i said was pressing against the the bowel and causing these severe problems uh i had surgery i i was in the hospital for 12 days and then about six weeks after that i started on chemotherapy i was in a clinical study so i had a long chemotherapy the particular trial i was in uh lasted for 16 cycles it was supposed to go 13 months but because i was delayed a lot of times because of blood tests it ended
• 63:30 - 64:00 up to be 16 months but i had an excellent response to the chemo um within just maybe the first cycle or two of chemotherapy my cancer markers the ca125 had gone from over 3 000 back to under 35 which is it was almost it was remarkable it was so quick um and then i said like i said i had uh the long cycle of chemotherapy although part of it this second half of the chemo was only once a month so it
• 64:00 - 64:30 wasn't very strenuous at all about two and a half years after um my first after about two and a half years i had my first recurrence of cancer by this time i had moved closer to my family in texas in houston and i was also accepted at a medical center cancer center in houston before i came because i was still being screened every three months within two months two years after i got here i had my first recurrence and then
• 64:30 - 65:00 i had two more within a six year period but quite amazingly i have not had a recurrence in eight years since 2012. um every now and then i would ask one of my doctors like my doctor in california and then when i moved down here my cancer doctor here and also i had a radiation oncologist because during my second recurrence i had radiation instead of chemotherapy because the cancer had only come back in
• 65:00 - 65:30 one spot so every now and then i would not too often but i would raise the question of genetic screening and each time my doctor kind of gave me the same answer that because i come from a large irish family with many women and there had been no history among my mothers or her sisters of gynecological cancer or breast cancer
• 65:30 - 66:00 about six years ago the cancer center i go to change their uh policy six years ago and decided that anybody coming for treatment for ovarian cancer or screenings for ovarian cancer should have the genetic screening for the broccoli mutations so i went to a genetic counselor she took a very thorough family history again i come from an irish family my mother was one of six
• 66:00 - 66:30 women six sisters and all of them lived to their late 80s number into their 90s and there had been no history of cancer so the the cancer the genetic counselor actually said after taking the family history it was very unlikely that the test would come back that i was brock a positive however it did come back that i'm brought up too positive um so anyway after that they recommended the genetic counselor recommended that i
• 66:30 - 67:00 tell my first degree relatives my siblings and you know and they'd be tested and then any children i had and i just had one daughter so my my siblings were tested it turns out that one of my sisters has the identical broccoli mutation i do she's 10 years older than i am but has never had cancer my other two siblings were not carriers of this mutation i also decided i should try to get hold of my
• 67:00 - 67:30 cousins because i had many cousins my mother had many sisters we weren't sure what side of the family it came from fortunately though about two months after i got my test results we were having the annual family reunion in washington dc of my cousins on my mother's side which were the only cousins i really knew um i did not know my father's family real well because i grew up grown up across the country from them so anyway when i went to this family reunion i took the 11 or 12 cousins who were
• 67:30 - 68:00 there my first cousins all the information about the my test results and also um the information my cancer center had given me or rather the genetic counselor had given me about how to find a genetic genetic tester or counselor if they wanted to and go about getting the test i felt for sure they would be interested in getting the test even if their insurance didn't pay for it because they were in their late 60s 70s
• 68:00 - 68:30 and the oldest ones in the early 80s all of them had grown children most of them had grown grandchildren or college-age grandchildren i knew they'd want to know the results i knew they'd want to know if they had this gene for their children and grandchildren's sake most almost all my cousins did decide to get tested i think there were only two who did not get the test and it turns out what we know was
• 68:30 - 69:00 my mother is definitely positive we we knew that it wasn't my it didn't come from my father's side it came from my mother's side my mother uh passed this jean on to two of her four children and her younger sister passed it on to her three surviving children all of whom tested for the identical mutation i had also um the three siblings of my my my aunt kay her three children i'm sorry uh had a brother who died at a relatively early age young age of
• 69:00 - 69:30 aggressive prostate cancer and i know now that the bronco gene the bronco ii mutation is associated with aggressive prostate cancer he had very good care at johns hopkins university i mean johns hopkins hospital um he had the best of care but he only lived for six years and my cancer doctor feels like it's almost certain that if his three surviving siblings all have this mutation that he probably did too but of
• 69:30 - 70:00 course he died long before i i ever had been tested for the bronco mutation um some of my well one of my nieces who has tested positive has and also some of my cousins children who have tested positive for this sprocket mutation have decided to have some preventative surgery to hopefully prevent ovarian cancer and breast cancer the ones who are in their 50s not going to have any more children
• 70:00 - 70:30 they have had their ovaries removed and one of my nieces my sisters one of her two children who tested positive for this has also decided to have a preventative mastectomy because her genetic counselor told her her doctor that there was about something like an 80 percent chance she would develop breast cancer over a lifetime and they judged that from her age of 53 when she found out she was brocco too positive
• 70:30 - 71:00 so anyway it's been very helpful to know this information for myself in case i get cancer again in case i get ovarian cancer i'll be eligible for certain treatments that i wouldn't have been eligible for if i wasn't broke a two-positive and of course for my family we are glad to know my cousins are glad to know for their children and grandchildren's sake about this very important information so anyway thank you thank you nancy
• 71:00 - 71:30 thank you so much nancy and thank you judy and tanya um we do have a few minutes for questions and so uh we will have our speakers videos up and if you'd like to ask a question please either write it in the chat or unmute yourself and feel free to ask i actually have a question for tanya is tanya still on i'm here hello oh do you guys do uh like
• 71:30 - 72:00 a home um genetics test like you uh something you can get home and send in to do a genetic testing so many of the labs that we work with do have an option where we can send out a saliva collection kit to patients home we do still offer the option of having patients come in for blood draw if that's their preference um but getting a saliva collection kit is just as accurate so you do that at baylor your clinic
• 72:00 - 72:30 yourself so our clinic does utilize the saliva collection yeah that's become a lot more popular now with patients not always wanting to come in um and in fact right now we're able to offer the option of doing virtual visits um which is very much like what we're doing right now where we can see and hear each other through the computer or come in for a regular in-person visit but then we can also do the the sample collection from home too if need be
• 72:30 - 73:00 thank you nancy i was going to ask you um what was that discussion like with you said that you have a daughter and did she decide to get tested and and how was that discussion particularly some family members that didn't want to get tested that was a difficult one because she had had her second child at 40 and she had she had first one in her
• 73:00 - 73:30 early 30s 33 and then she had a real hard time conceiving and with um anyway donor egg and everything she had her second baby it she was 40. and i i felt i should get the information to her soon only because i knew at her age she would want to consider having her ovaries removed fairly quickly since she you know she wasn't going to have any more children so when her baby was only two months old i had to tell her about it and she
• 73:30 - 74:00 opted right away literally within a week she had an appointment to uh go to a genetic counselor um luckily my one child did not inherit this gene from me i told her she'd run one the genetic jackpot she has the ashkenashi jewish dad and the irish mother and she might have inherited the gene from the irish mother um but she didn't test positive but my sister's four children who've been tested she has
• 74:00 - 74:30 five children one you know two have tested positive and once a man that he needs to be screened more for breast cancer also so yeah exactly thank you yeah but um any other questions okay well it seems like there aren't any additional questions thank you so much for sharing your story and we will have a survey that will go out to all the participants
• 74:30 - 75:00 so please complete that survey and evaluation and also susan is putting the survey in the chat and so you can easily link to it from the chat um thank you all so much to ourselves i'm not able to uh attach that file to the chat for some reason so can i send that to you pilar yeah certainly yes yeah and i can uh forward it to susan and we can distribute it judy let me just ask you one thing somebody sent me a message i wasn't sure it was a question it's at the bottom
• 75:00 - 75:30 i'm not sure how to pull it up but it probably wasn't a question it was uh it was a message from one of the people who thank you to nancy for sharing your story another example of power yeah that wasn't oh okay well that's nice that's nice great well thank you all so much and thank you to everyone who joined take care thank you thanks bye-bye bye thank you nancy sure nice to see you again
• 75:30 - 76:00 thank judy