Showing posts with label BRCA2. Show all posts
Showing posts with label BRCA2. Show all posts

Tuesday, 29 September 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, 23 July 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

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