Hello, I am a 58-year old woman of Ashkenazi Jewish heritage. I have never had cancer, my Mother is alive and well at age 80 and has never had cancer and my Grandmother never had cancer during her lifetime. They both had hysterectomies in their forties due to large fibroid tumors which I never experienced (I've always attributed that to the fact that I was on the birth control pill for over 15 years). My fraternal twin sister had a hysterectomy in her early 40's for the same reason. I don't know my father's family's medical history as his entire family perished in WW2. My father was diagnosed at age 65 with colon cancer which ultimately caused his death (I get a colonoscopy every 5 years and haven't had a polyp yet). My question is, do you feel I should be tested for the BRCA1 & 2 gene mutations? I'm unsure what the current guidelines are for this test, but I do know that women of Ashkenazi Jewish heritage have this mutation more than the general population. I thank you for your assistance.
Three specific mutations in the BRCA1 and BRCA2 genes are more common in people of Ashkenazi Jewish (AJ) ancestry. These mutations are187delAG (BRCA1), 5385insC (BRCA1), and 6174delT (BRCA2). As you may be aware, about 1 in 40 individuals of AJ ancestry have one of these mutations. Having a BRCA1/2 mutation increases an individual's lifetime risk to develop breast cancer and associated cancers such as ovarian cancer in women.
Currently, most individuals who are offered genetic testing for BRCA1/2 mutations are considered "at increased risk" due to a personal or family history of breast and/or associated cancers. Population screening for BRCA1/2 mutations in all women of Ashkenazi Jewish descent is not currently the standard of care. However, there are studies that are evaluating the fesibility of such population screening.
We recommend that you meet with cancer genetics, who can review your family history (including known 2nd and 3rd degree relatives) and assess risk. A cancer genetic counselor can review the benefits and limitations of genetic testing for BRCA1/2 mutations. You can find a cancer genetic counselor at the National Society of Genetic Counselors website or through companies like mine, AccessDNA. We wish you the best
Thank you so much for your advice and resource information. I have found a cancer genetics counselor at the National Society of Genetic Counselors website, and I've e-mailed her regarding a consultation.
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