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.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. Med Help International, Inc. is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.