We were pleased to have Meg Farmer (@MegFarmerCGCMBA), Genetic Clinical Operations Director at My Gene Counsel (@MyGeneCounsel) join us on Wednesday September 8, 2021 at 8pm ET to discuss Genetic Testing and Gyn Cancers.
Sixteen participants joined us for this important discussion. You may find analytics here and a transcript here. Resources may be found at the end of the post.
Here is a summary of the responses to our topic questions.
T1: The topic of genetics and cancer can quickly get confusing. What is genetic testing vs. genomic testing?
- Genetic (germline) testing looks for hereditary mutations linked with increased risk of cancer. Genomic (somatic) testing looks for mutations in the tumor/cancer that may be useful for targeted cancer treatment
- Genetics are what is going on in ALL your cells ( often called germline testing). Genomic testing is specific to the tumor - it can be obtained through tissue or blood!
- Study of genes and their roles in inheritance vs. the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment #gyncsm https://www.genome.gov/about-genomics/fact-sheets/Genetics-vs-Genomics
T2a: Mutations in what genes are known to be associated with ovarian cancer?
- To start, mutations in many genes are linked with hereditary risk for ovarian cancer. Most people think of #BRCA1 and #BRCA2 first because mutations in these genes account for the most cases of hereditary ovarian cancer. Other genes linked with hereditary ovarian cancer include #Lynchsyndrome genes, #BRIP1 , #RAD51C , #RAD51D , #PALB2 and more. Importantly not all genes are equal when it comes to level of risk and @NCCN guidelines for risk reducing options.
T2b: Mutations in what genes are known to be associated with endometrial cancer?
- To start, mutations in multiple genes are linked with hereditary endometrial/uterine cancer. Mutations in #Lynchsyndrome genes (MLH1, MSH2, MSH6, PMS2, EPCAM) account for the most cases of hereditary endometrial cancer. Risk varies significantly by gene. Other genes linked with hereditary uterine cancer include #PTEN ( #CowdenSyndrome ) and #STK11 ( #PeutzJeghersSyndrome ). #POLD1 and others may be associated but research is ongoing. https://pubmed.ncbi.nlm.nih.gov/29428283/
T2c: Are mutations in any genes known to be associated with other gynecologic cancers?
- Less commonly, but yes. For instance you can see #CervicalCancer in association with mutations in #STK11 ( #PeutzJeghersSyndrome ) and genes linked with #FanconiAnemia and #DyskeratosisCongenita . Other rare GYN tumors can also have a hereditary cause.
T3a: What types of genetic testing are used to find hereditary reasons for gynecologic cancer?
- To start, in the past, #GeneticCounselors and doctors considered the cancers in a person/family and tested for the most likely condition first- like we've discussed. But sometimes that didn’t identify a cause, and it wasn't always possible to order additional tests. Now multigene panels that test several genes at once are more common. Number of genes included varies widely. Panels may also be focused (ex: only gyn ca genes) or broader. Results can be complicated but GCs and other tools can help https://www.nsgc.org/Policy-Research-and-Publications/Position-Statements/Position-Statements/Post/use-of-multi-gene-panel-tests
- Genetic counseling can be vital in the process. The science is moving fast and there is a lot to digest. You can search for one using this tool from NSGC https://findageneticcounselor.nsgc.org/
T3b: Who is recommended to get genetic testing for hereditary gynecologic cancer?
- To start, according to the @NCCN , #GeneticTesting should automatically be considered for those with epithelial #ovariancancer or #endometrialcancer younger than 50. https://t.co/QVemXGk8Gu https://t.co/2pfMrwwNkR #GeneticTesting should also be considered if we see following combinations of cancer in one person or branch of a family tree: colon/endometrial/ovarian/other GI cancers or breast/ovarian/prostate/pancreatic cancers. If you’re concerned about hereditary cancer risk based on this or other personal/family cancer history, a #GeneticCounselor can help determine whether genetic testing is appropriate, best person in family to test, and best test.
- @asco has this guideline for testing women with an epithelial ovarian cancer dx - Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline https://ascopubs.org/doi/full/10.1200/JCO.19.02960 #gyncsm
- Every #ovariancancer patient should have genetic testing at the time of diagnosis.
- Or for patients with endometrial cancer who have abnormal MMR (mismatch repair genes) - genetic testing for Lynch syndrome may be recommended.
T4a: Do different mutations appear in tumors (genomic testing) than may appear in genetic tests?
- Yes. All tumors have mutations. Most of these are only in the tumor (somatic) rather than there from birth and usually in all of a person’s cells (germline/hereditary). For every cancer type, there are genes in which we are most likely to see somatic mutations Just like multigene genetic tests are often used now, genomic tests usually test many genes at once too so oncologists have more info to work with when considering how a cancer is behaving and best treatment plans
T4b: Is genetic testing ever recommended because of genomic test results?
- To start, yes. There can be clues in somatic test results that a person may actually have a hereditary mutation. For example, if a #BRCA mutation is seen in any tumor type, or if a mutation is seen at a higher level in a tumor than would be expected if just somatic. Your doctor or genetic counselor can help clarify and develop a plan for hereditary genetic testing if such clues come up in somatic testing. Check out this blog on the subject from @InformedDNA #gyncsm https://informeddna.com/somatic-vs-germline-testing/
T5: What are some of the benefits of genetic and genomic testing?
- To start, genomic (somatic) testing can help oncologists understand how a cancer behaves and potentially identify targeted treatments #precisionmedicine Genetic (germline) testing can be helpful for those without cancer too if hereditary cancer is suspected in a family. If a mutation is identified, individualized plans can be made for early cancer detection, cancer risk reduction, and family planning.
- Concerns about #genetictesting , health insurance, life insurance, and other policy types are common. Check out this guide on protections and exceptions of the Genetic Info Non-Discrimination Act (GINA) #gyncsm https://www.jax.org/education-and-learning/clinical-and-continuing-education/ccep-non-cancer-resources/gina-overview#
- I think the importance of genetic testing after diagnosis is growing and growing - especially with newer treatments like immunotherapy. But all treatments are getting more targeted so knowing the genetic and genomic test results can be key to improved outcomes
- Definitely a lot goes into the decision to get tested before or after diagnosis. That's where genetic counselors can be so valuable. There are also wonderful groups like @FacingOurRisk that can help you think through the legal/insurance/etc. issues and beyond.
We are happy to have celebrated our 8th Anniversary as a Chat and Community during this chat. Thank you for everyone who has helped to support the #gyncsm community these past eight years.
It is time again for our biennial survey. This survey helps Christina and I plan the coming year's chat topics and, along with our health moderators, provide you the best information in the best format. This link to the community survey will be open until Sept 22 https://www.surveymonkey.com/r/SGD3SDQ . Please take some time to fill out this five minute survey. Thanks!
Note there will be no #gyncsm
chat in October.
Save the date for our next chat Wed, November 10, 2021 at 8pmET when
we’ll discuss “Talking to Family and Friends about Cancer and Cancer
Risk”.
See you in November!
Dee
Resources
Fact Sheet - Genetics vs Genomics
Who Should Be Concerned About Hereditary Cancer?
NCCN Know What Your Doctors Know: Ovarian Cancer Part 3 – Genetic Testing
ASCO guideline
Hereditary Cancer s in Gynecology ...
Patient-Centered Cancer Care: Somatic vs Germline Testing and the Role of Genetic Counselors https://informeddna.com/somatic-vs-germline-testing/
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