A complete transcript may be found here and the analytics here.
Here are a few responses to the questions we asked.
T1A: What is hereditary breast and ovarian cancer (HBOC)? Which are the most commonly affected genes in HBOC?
- A1 HBOC means that there is an inherited risk factor that increases the chance of developing certain cancers over a lifetime such as breast & ovarian cancer. There are several breast/ovarian cancer genes; the most well known are BRCA1 & BRCA2.
- T1a Cancers that occur because of an inherited genetic mutation are hereditary cancers or HBOC. Cancers that are not due to a hereditary gene change are called sporadic cancer. #gyncsm
- A1 The chance of developing cancer over a lifetime varies depending on the gene & by gender. Remember inherited cancer predisposition may be inherited from men just as likely as w/ women. Don’t forget the guys in the family! Men have an increased cancer risk too. #gyncsm
- T1a Red flags of HBOC include ovarian, early onset breast, male breast, pancreatic or prostate cancer. Also, multiple family members w/cancer and/or Ashkenazi Jewish ancestry. #gyncsm
- A1a BRCA1/2, PALB2, ATM, and CHEK2 are commonly affected genes in HBOC.Other genes related 2 HBOC include BARD1, BRIP1, RAD51C, RAD51D, EPCAM, CDH1, CHEK2, NBN, MLH1, MSH2, MSH6, PMS2, NF1, PMS2, PTEN, STK11, TP53 #gyncsm
T1B: What information do genetic counselors need to determine risk and the need for women to be tested? #gyncsm
- A1B Talk with relatives to learn about the health problems that run in the family. For cancer, ask what type & age of onset. Ask if female relatives have had ovaries and/or uterus removed plus the age. Ask about colon polyps too. #gyncsm
- A1b Personal & family history of all cancers (2-3 generations) including type & age at diagnosis from the mother’s & father’s side of the family help determine risk & need for genetic testing. #gyncsm
- A1B Genetic testing is common now. Ask if relatives had genetic testing done & if they would share a copy of the results. Important to share information to help protect health! #gyncsm
- A1b People w/ Eastern European Jewish ancestry are 10 times more likely to carry a BRCA mutation than the average population. 1:40 vs. 1:400 people.
T2A: What % of women diagnosed with breast cancer have these mutations? What % with ovarian cancer have these mutations?
- A2a An estimated 10% of #BC and 15-20% of #OVCA are due to an inherited genetic mutation. These numbers are higher in certain populations
- A2A Up to 10% of women w/ #BC have a strong inherited risk factor. Another 20% of women w/ #BC may have a moderate risk cancer gene. For #ovca, up to 25% of women have an underlying inherited risk. Important to see a GC for a risk assessment & consider testing. #gyncsm
T2B: Has the number of prophylactic surgeries (surgeries before cancer develops) increased in the past 10 years? Have celebrity stories about their surgeries helped or hindered from your perspective?
- A2B Celebrity stories created awareness & conversation about options for risk reduction. Words used to describe mastectomy have changed to be more accepting & supportive than past years.
- Surgical decisions personal & may be influenced by cancer experience in family. Have seen more women ask about bilateral mastectomy in recent to explore all options.
- T2A: certain types of breast & ovarian cancer have higher % chance of having a hereditary cause such as triple-negative breast cancer (especially if diagnosed before 60yo) & high-grade serous ovarian cancer. A genetic counselor can help assess your risk
- A2b Genetic testing has increased & national guidelines support risk-reducing surgery for those w/certain mutations so it follows that the numbers of prophylactic surgeries have increased.
- A2b Celebrity stories have both helped & hindered genetic testing depending on the celebrity & the nature of the story. Angelina Jolie was probably the most positive & influential.
T3A: What options do women with a BRCA mutation (Previvors) have to reduce their risk of the diseases? How will the new USPSTF testing recommendations impact women?
- A3: There are 3 main options to manage or reduce risk: increased screening, chemoprevention & risk-reducing surgery. #gyncsm https://t.co/AoKQ0eXDy4
- A3: The new USPSTF guidelines are nearly identical to those published in 2013. Only addition is consideration of ancestry in evaluating risk & need for testing.
- A3: The new USPSTF recs fall short of meeting the needs of Americans who may be at increased risk of cancer due to hereditary factors. Check out our statement on the new guidelines.
- A3 New recs help remind that past hx of #brca important as testing may not been available @ time of diagnosis & criteria broader. Young age (50 or under), bilateral #brca, metastatic brca, triple negative brca, #ovca, #FTca & primary peritoneal all test candidates. #gyncsm
- A3: USPSTF guidelines ignore men, ignore mutations other than BRCA, & ignore people w/ cancers other than breast or ovarian. They must do better.
- It's helpful to remember USPSTF has specific parameters and frameworks that they work within--they focus on evaluating high quality evidence for specific populations. Often in hereditary cancer, evidence is poor, out of date, or has gaps -- we have tons more work to do!
T3B: What are the benefits of testing for women already diagnosed with breast or ovarian cancer?
- Testing post diagnosis #bc or #ovca helpful to determine chance second cancer over lifetime, where, and if should consider risk reduction or extra surveillance. Helps relatives prevent cancer too.
- Targeted therapies, such as PARP drugs are paving the way for HBOC’s. Progression free survival is making a difference for these women.
- Testing post diagnosis #bc or #ovca helpful to determine chance second cancer over lifetime, where, and if should consider risk reduction or extra surveillance. Helps relatives prevent cancer too.
- A3b: Testing may help identify targeted treatments. It also helps inform surgical decisions, risk of other cancers, and potential risk to family members.
- T3B: Targeted therapy consideration & clinical trial eligibility are increasingly factors that encourage women w/ #breast or #ovarian cancer to seek genetic counseling & genetic testing -- mutation status can guide which treatment or maintenance options may be recommended
T4 What advice can you offer to women with the mutations in how to to share this information with their families?
- A4 GCs often provide letter to share w/ family explaining inherited risk in the family & how to learn more. Important to share information w/ relatives. Respect different choices w/ how to use results & differing opinions on whether want to know mutation status.
- A4 If you receive a relative letter, remember the courage it took to send it & the intent to help you learn more if you wish to do so. Talk to a GC to answer your questions. It does not obligate you to test, but instead helps you make an informed choice.
- Prevention for extended family members by genetic testing is a priceless gift from those previously affected by HBOC. Having options & making life style changes are just a few more extended gifts.
- Great resources exist to help relatives share results and access "cascade" genetic testing: check out @KintalkUCSF https://t.co/GlpGnGTXbn (a research study offering testing) + many genetic testing laboratories now offering ways to get tested directly
- FORCE even has a sample letter for sharing info about the mutation with family members and children. We encourage anyone considering testing to seek out a genetic counselor!
T5: If you had genetic testing, what reaction did you have when you learned you had or did not have a BRCA mutation?
- A5 Many experience fear or sadness, but also a sense of empowerment.
- I was disappointed I did not have the mutation.Part of me I wanted to explain why I got #ovca . I also thought women with a the mutation has longer survival and more treatment
- When my family member tested positive, it was an answer to something we knew was going on in the family. It was a relief that is is moderate risk vs high risk. It being moderate and more rare also makes healthcare decision making that much more murky though
- T5: complex reactions — relieved that my OvCa wasn’t my “fault”; surprised that as an Ashkenazi Jew with a mom who died of breast cancer genetic testing had never been offered to me earlier; I was completely #BRCA-unaware. So I was gobsmacked as they say across the Pond.
- T5: Pretty much expected to test +, so wasn't shocked. At that point, we were used to getting bad news. Or sorta numb to it.
Insurance:
Many assume that insurance won't cover genetic testing. Or, they fear insurance repercussions. FORCE has info on legal rights and insurance coverage. We also have sample insurance appeal letters for those who encounter problems with coverage.
We will not be chatting in October but be sure to catch our next #gyncsm chat on Wed Nov 13th when we’ll discuss Stress and Cancer.
* Announcement * - It is time for a survey of our #gyncsm community. We hope you will complete the short survey at: https://www.surveymonkey.com/r/FBVD8TN so we can understand our community and support you with the topics that are most beneficial. The survey will be open until September 30, 2019.
We look forward to seeing you in November.
Dee
#gyncsm Co-moderator
RESOURCES
@FORCE https://www.facingourrisk.org/understanding-brca-and-hboc/information/hereditary-cancer/hereditary-genetics/?subcat_nice_name=hereditary-genetics&tab_type=index
@SHAREing https://www.sharecancersupport.org/
@GeneticCouns https://www.findageneticcounselor.com/ to locate a genetic counselor near you or by telephone.
CDC Does Breast or Ovarian cancer run in your family ? https://t.co/qQuS4Pr1pW
Facebook: #BRCA Advanced 101 & 102 #JournalClub
