Showing posts with label mutations. Show all posts
Showing posts with label mutations. Show all posts

Wednesday, September 8, 2021

September 8, 2021 - 8th Anniversary Chat , Genetic Testing and Gyn Cancers

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?
T2c: Are mutations in any genes known to be associated with other gynecologic cancers?
T3a: What types of genetic testing are used to find hereditary reasons for gynecologic cancer?
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/

Thursday, September 2, 2021

Genetic Testing and Gyn Cancer chat - Our 8th Anniversary Chat on the 8th!

 


We are pleased that Meg Farmer (@MegFarmerCGCMBA), Genetic Clinical Operations Director at My Gene Counsel (@MyGeneCounsel) will join us Wednesday September 8, 2021 at 8pm ET (7pm CT, 5pm PT) for our discussion of Genetic Testing and Gyn Cancers

We will discuss the difference between genetic and genomic testing, gene mutations associated with gyn cancers, germline and somatic testing for gynecologic cancers, recommended genetic/tumor  testing for gyn cancers, and how knowledge from the tests can help patients make treatment decisions.

Here's our topic questions:

T1: The topic of genetics and cancer can quickly get confusing. What is genetic testing vs. genomic testing?

T2a: Mutations in what genes are known to be associated with ovarian cancer?
T2b: Mutations in what genes are known to be associated with endometrial cancer?
T2c: Are mutations in any genes known to be associated with other gynecologic cancers?

T3a: What types of genetic testing are used to find hereditary reasons for gynecologic cancer?
T3b: Who is recommended to get genetic testing for hereditary gynecologic cancer?

T4a: Do different mutations appear in tumors (genomic testing) than may appear in genetic tests?
T4b: Is genetic testing ever recommended because of genomic test results?

T5: What are some of the benefits of genetic and genomic testing?

Our September chat will mark our 8th Anniversary as a chat and community. Has it really been 8 years? Seems like yesterday when Christina and I were emailing back and forth with Drs Dizon, Boulay, Markham and Becker-Schutte about starting a gyn cancer community similar to the #bcsm community. 

September also marks the time when we once again invite our community to take a survey. The 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. We will share the link to the survey in our after-chat blog post.

All September, which is Gynecologic Cancer Awareness Month (#GCAM), learn more about gyn cancers by following our Twitter posts and those of our supporters, @SGO_org, @IamCervivor and @ocrahope. 

We look forward to seeing you on the 8th. 

Dee and Christina

Wednesday, July 11, 2018

Hereditary vs Somatic Mutations July 2018 Chat

Tonight our topic was Hereditary vs Somatic Mutations in gynecologic cancers. Along with our regular participants we also welcomed a few new community members. We especially appreciate the attendance of Erica Bodner (@EMBOSU), a genetic counselor at MD Anderson Cancer Center for sharing her expertise on hereditary mutations and the role of genetic counselors.

You may find a complete transcript here and analytics here. The resources shared during the chat are listed at the end of this post.

Here is a sample of the responses to the questions we asked during the hour chat.

T1: What is the difference between hereditary mutations and somatic mutations?
  • hereditary mutations (aka germline) = changes or "spelling mistakes" in a gene that we inherit from a parent. The mutation is present in every cell of our body. Somatic mutations are what I think of as tumor-specific: changes that occur in the tumor or cancer
  • “When a mutation occurs within germ cells, it is called a germline mutation. Germline mutations affect every cell in an organism and are passed on to offspring. When a mutation occurs in a somatic cell, it is called a somatic mutation.”
  • There are some tricky cases where we look at a tumor for it's somatic mutations and accidentally find hereditary (germline) changes -- since those are in all of the cells, often including the tumor. It can get complicated!
T2: Which gene mutations are known to be associated with hereditary gynecologic cancers?
    • 1) a single gene is like a very long sentence...a mutation=a letter change somewhere within that sentence that causes the sentence to not make any sense to the body. There can be 100s of spots in any given gene that can have a mutation
    • (2): for gyn cancers it's often easier to think about which cancers are linked to which hereditary conditions. Ex: ~3% of endometrial cancers are due to Lynch syndrome (caused by a mutation in 1 of 5 genes: MLH1 MSH2 MSH6 PMS2 or EPCAM)
    • (3) about 10-20% of "epithelial" ovarian cancers are due to a hereditary cause...most often a mutation in BRCA1 or BRCA2, but sometimes can be due to a mutation in a Lynch syndrome gene or a "moderate penetrance" gene like RAD51D
    • Genetic mutation an alteration in DNA occurs after conception ovarian CA inherited mutation in BRCA1/BRCA2
    • Yes. BRCA associated ovarian cancers are more frequently high grade serous carcinomas whereas Lynch syndrome associated ovarian carcinomas are nonserous (most endometrioid or clear cell)
    • BRCA1 and BRCA2
      T3: What testing is needed to find hereditary mutations?
          T3 follow-up... What are the differences between clinical genetic tests and Direct To Consumer (DTC) tests?
          • T3 (1) clinical genetic tests are ordered by your genetic counselor and/or doctor for medical purposes + have high levels of quality control & regulation. DTC labs (historically) have been tests ordered by any1 from home + often used different technology+ non-med purpose
          • 2) now we're starting to see clinical-DTC Hybrids like @Color that are a little bit of both. The genetic testing area is growing & changing very fast...luckily it's our job as genetic counselors to keep track of what's out there & can help navigate you to best options
          • T3: There have been many articles recently about what DTC do and do not cover. Most would need a clinical lab test to confirm results. Genetic counseling key before to decide and after to be sure understand results
          • Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations #gyncsm http://www.facingourrisk.org/XRAYS/inaccurate-dtc-results?utm_source=social&utm_medium=social&utm_campaign=XRAYS%202017-2018%20social%20monitoring
          • Cannot be overemphasized the importance of having ur health care team involved. Confirming DTC results in a clinical laboratory that's well versed in complex variant detection & classification is essential. This is concerning... https://www.nature.com/articles/gim201838
          T4: Do we know what somatic mutations are prevalent in gynecologic cancers?
          • I found this journal article "13 most important genes for gynaecological cancers, being BRAF, CDKN2A, CTNNB1, FBXW7, FGFR2, FGFR3, FOXL2, HRAS, KRAS, NRAS, PIK3CA, PPP2R1A and PTEN." http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0093451
          • Research on somatic mutations is early but is part of the personalized/precision medicine puzzle. BRAF, KRAS, PIK3CA and PTEN have been identified with epithelial ovarian tumors. There are also somatic BRCA mutations. 
           T5: How does knowing you have these mutations impact your healthcare decisions?
            • knowing if you have a hereditary mutation (or not) can impact cancer treatment decision making, cancer screening/prevention options, and can provide info to relatives so they can better understand their cancer risks
            • hereditary mutations can signal risk for other, separate cancers... This can be information to help guide screening and prevention (but the info might also feel like a burden, especially if you are already dealing with one cancer dx).
            • For those already diagnosed, more and more research is coming out to help select the best treatment based on which mutations are present. Genetic and tumor tests can help decide what to try when standard tx doesn't work - or even what to try first.
            • Do you chose prophylactic surgery? Vigilant testing ? #gyncsm. Tough choices
            • Women w/ OC knowing they are BRCA allows for additional treatment options on - PARP for example
            • Knowing that you are at risk for a certain cancers can be powerful information that allows you to take preventative risk reduction measures against developing those cancers
              T6: What role do genetic counselors play in helping patients understand the results of testing?
                • My personal bias is to hope that genetic counselors have good relationships with mental health professionals to refer patients to.
                • Personal risk is discussed. Choices are discussed. Emotional support is discussed. Information is powerful in making best decisions
                • Genetic counseling can be especially important as multi-gene panel might be better suited given your family history (vs testing for one type of mutation).
                • Genetic counselors can help you to navigate and piece together how your cancer history+family history impact your chance to have a hereditary mutation. We can help figure out if the testing you had was hereditary (germline) or somatic.
                • Genetic counselors can help you weigh pro's and con's of genetic testing, and what results could mean for you and your family. Where to get tested? Does insurance cover it? We can help with that too!
                • We can help explain your results, develop a plan for you and your family to help #endcancer. We also want to be a resource - emotional, informational, and for your family. You can find one of us at http://www.nsgc.org @GeneticCouns


                  If you are a patient or caregiver you may continue this discussion on the Smart Patients Platform https://www.smartpatients.com/gyncsm ). 

                  We hope you will join us for the next #gyncsm chat: Wednesday, August 8, 2018 on "What is OK during treatment?" where we'll touch on things like vitamins, supplements, exercise, etc.
                  Have a good month.

                  Dee
                  #gyncsm Co-moderator


                  RESOURCES
                  Germline vs Somatic mutations
                  https://biologywise.com/germline-mutation-vs-somatic-mutation

                  National Society of Genetic Counselors
                  https://www.nsgc.org/

                  FORCE
                  http://www.facingourrisk.org/understanding-brca-and-hboc/getting-tested.php
                  http://www.facingourrisk.org/XRAYS/inaccurate-dtc-results?utm_source=social&utm_medium=social&utm_campaign=XRAYS%202017-2018%20social%20monitoring

                  SGO
                  https://www.sgo.org/newsroom/position-statements-2/genetic-testing-for-gynecologic-cancer/

                  Salon - What Genetic Testing Didn't Tell Me About My Cancer
                  https://www.salon.com/2018/06/24/what-genetic-testing-didnt-tell-me-about-my-cancer/

                  CURE Magazine - Cancer Redefined Personalized Medicine
                  https://www.curetoday.com/community/rick-boulay/2018/07/cancer-redefined-personalized-medicine

                  NATURE - False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care
                  https://www.nature.com/articles/gim201838

                  New York Times - The Online Gene Test Finds a Dangerous Mutation...
                  https://www.nytimes.com/2018/07/02/health/gene-testing-disease-nyt.html?nytmobile=0

                  @NIH Fact Sheet
                  https://www.genome.gov/pages/health/patientspublicinfo/genetictestingfactsheet.pdf

                  Designing a High-Throughput Somatic Mutation Profiling Panel Specifically for Gynaecological Cancers
                  http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0093451

                  Friday, July 6, 2018

                  July 11, 2018 Hereditary vs Somatic Mutations


                  The topic of the #gyncsm community's second ever chat was Genetics and Personalized Medicine. Since that day in October 2013 we have learned much more about the mutations associated with gynecologic cancer. This month we will be discussing Hereditary vs Somatic Mutations.

                  If you want to know...
                  • The differences between hereditary and somatic mutations
                  • The gene mutations associated with hereditary gynecologic cancers
                  • What testing is needed to find hereditary mutations
                  • What somatic mutations are prevalent in gynecologic cancers
                  • How knowing you have these mutations can impact your healthcare decisions
                  • What role genetics counselors play in understanding test results
                  ...then be sure to join us on Wednesday July 11, 2018 at 9pm ET

                  The CDC has a wealth of information on genes and genetics at https://www.genome.gov/education/ or check out this Fact Sheet from the NIH  https://www.genome.gov/pages/health/patientspublicinfo/genetictestingfactsheet.pdf

                  We look forward to having you join us on the 11th. 

                  Dee

                  Tuesday, September 29, 2015

                  Hereditary Breast and Ovarian Cancer Week



                  [posted updated 9/2016, 9/2017, 9/2018]

                  The #gyncsm community has chatted about gynecologic cancer risks, the genetics of cancer (Genetics and Personalized Medicine), Genetic Counselors and Understanding Gyn Cancer Risk and Hereditary vs Somatic Mutations. HBOC week gives us another opportunity to share resources and information on hereditary ovarian and breast cancers.

                  About 15% of the ovarian cancers diagnosed are due to germline (inherited and passed on to offspring) mutations in the BRCA1 and BRCA2 genes. Having these mutations increases the risk of ovarian cancer by 15-50%. “Nearly one-third of women with hereditary ovarian carcinoma have no close relatives with cancer, and 35% of women with hereditary ovarian carcinoma are older than 60 years at diagnosis”(NCI). 

                  The Society of Gynecologic Oncology released a Clinical Practice statement in 2014 stating that all women diagnosed with ovarian, tubal and primary peritoneal cancer regardless of age or family history should receive counseling and be offered a genetic test. (https://www.sgo.org/clinical-practice/guidelines/genetic-testing-for-ovarian-cancer/)

                  F.O.R.C.E. (Facing Our Risk of Cancer Empowered) has played a crucial role in raising awareness, providing information and supporting research into hereditary breast and ovarian cancers. "The goal of HBOC Week and Previvor Day is to raise awareness about hereditary cancer. HBOC Week marks the transition between National Ovarian Cancer Awareness Month and National Breast Cancer Awareness Month and recognizes anyone affected by hereditary breast or ovarian cancer, including women and men with BRCA mutations, people with a family history of cancer, breast and ovarian cancer survivors, and previvors, individuals who carry a strong predisposition to cancer but have not developed the disease."

                  We hope you find these resources helpful. 


                  Hereditary Cancer Resources:

                  Bright Pink
                  www.bebrightpink.org
                  F.O.R.C.E. (Facing Our Risk of Cancer Empowered)
                  http://www.facingourrisk.org/
                  Sharsheret
                  http://www.sharsheret.org/
                  BRCA Mutation
                  http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA
                  Lynch syndrome
                  http://www.cancer.net/cancer-types/lynch-syndrome
                  Cowden syndrome
                  http://www.cancer.net/cancer-types/cowden-syndrome
                  Li-Fraumeni syndrome
                  https://www.lfsassociation.org/what-is-lfs/
                  Peutz-Jeghers syndrome
                  https://www.cancer.net/cancer-types/peutz-jeghers-syndrome



                  Genetics: 
                  National Society of Genetics Counselors http://nsgc.org/
                  Find a Counselor Tool: http://nsgc.org/p/cm/ld/fid=164


                  Dee
                  #gyncsm Co-Founder 

                  Thursday, July 23, 2015

                  Genetic Testing and Ovarian Cancer

                  Genetic Testing and Ovarian Cancer originally appeared as a blog post on the National Society of Genetics Counselors (NSGC) website on Mar 23, 2015. It was written by Leigha Ann Senter-Jamieson, MS, LGC. Thank you  NSGC and Liegha Senter-Jamieson for allowing us to share this important information with the #gyncsm community.  



                  DNA Double Helix
                  As a genetic counselor specializing in ovarian cancer, I was heartened to learn about a recently approved chemotherapy treatment for women with a type of inherited ovarian cancer. In December, the US. Food and Drug Administration granted accelerated approval of Lynparza (also known as olaparib) for women whose ovarian cancer is caused by an inherited mutation in the BRCA1 or BRCA2 gene. Currently, this treatment is only for women whose cancer has failed to respond to three other types of chemotherapy.

                  Precision Medicine
                  This is an exciting example of how our understanding of the role of genetics in cancer is advancing the field of precision medicine, and bringing hope to women with ovarian cancer or anyone with a cancer that’s resistant to many of our standard treatments.

                  If you or a close relative has ovarian cancer, you may want to learn more about this treatment option, and consider genetic testing and genetic counseling. Genetic counseling both before and after the test is key.

                  What Genetic Testing Can Tell You
                  Genetic testing for ovarian cancer can provide information beyond whether a specific type of chemotherapy might be effective. It can tell you whether your particular type of cancer is hereditary and whether your close relatives, men included, may be at increased risk for developing ovarian cancer or other cancers, and whether they should consider being tested. Data suggest that up to 15 percent of women with ovarian cancer have a BRCA1 or BRCA2 mutation. These genes are associated with a 50 percent to 80 percent lifetime risk of breast cancer and a 20 to 40 percent lifetime risk of ovarian cancer in women, as well as an increased risk for breast cancer in men. These cancer risks are much higher than the risks faced by the general population. Because of this, women with the BRCA gene mutations are advised to begin cancer screenings at an earlier age and have them more often. Some women also consider having surgery to remove their ovaries or their breasts, which significantly lowers their risk of developing cancer. Since men may also inherit a BRCA1 or BRCA2 mutation, genetic testing is important for male relatives to consider as well since their screening would be adjusted if they were found to have the mutation.
                  Genetic counseling both before and after [genetic testing] is key.

                  While BRCA1 and BRCA2 mutations are the most common causes of hereditary ovarian cancer, there are less common genetic causes of the disease. In fact, many women with ovarian cancer now choose to have more extensive genetic testing utilizing what is often referred to as multi-gene panel testing. These tests analyze many genes at once and often include the BRCA genes. Multi-gene panels usually include other well-known genes that are less commonly associated with ovarian cancer risk. For some of the genes included in these tests, there are no published guidelines regarding cancer screening so it’s up to your cancer genetics care team to design a screening plan based on the available data.

                  The Role of Genetic Counseling
                  The information provided by genetic testing can be extremely useful, but it can also be overwhelming. A genetic counselor can help you decide which genetic test is right for you, guide you through the test results and what they mean for you and your family, and help you consider your options for screening, prevention or treatment.  
                  If you’d like to speak with a genetic counselor, you can locate one in your area using NSGC’s “Find a Genetic Counselor” tool.


                  Leigha Senter-Jamieson, MS, LGC is a member of the National Society of Genetic Counselors 2015 Board of Directors and is associate professor in the Division of Human Genetics in the Department of Internal Medicine at The Ohio State University



                  Dee
                  Co-moderator #gyncsm