Women of Ashkenazi (central or eastern European Jewish) descent have greater risks of developing breast or ovarian cancer due to a higher incidence of inherited genetic mutations. Ashkenazim have a one in 40 chance of having a harmful BRCA1/2 (BReast CAncer) genetic mutation. Only one in 400 people in the general U.S. population have such a mutation.
“BRCA genes help repair damaged DNA and therefore keep our cells healthy,” explains Dr. Marnee Spierer, a radiation oncologist specializing in breast cancer, who recently joined the Cancer Treatment Centers of America’s Western Regional Medical Center. “Mutations of these genes prevent them from doing their job – therefore damaged cells can develop into cancer. Roughly 10% of women in the general population will develop breast cancer. Compare that to 50-70% of women with BRCA1 mutations and 40-60% of women with BRCA2 mutations will develop breast cancer. Similarly with ovarian cancer – 1.5% of women in the general population will develop ovarian cancer as compared to 40% of BRCA1 mutation carriers and 15% of BRCA2 mutation carriers.”
Men with BRCA1/2 mutations also have increased risks of cancer – colon, prostate, pancreatic and breast.
While people of Ashkenazi Jewish descent have a higher prevalence of BRCA mutations than people in the general population, Dr. Spierer notes, “With that being said – BRCA mutations are relatively rare in general, and among Ashkenazi Jewish women – most breast cancer (90-95%) is not genetic.”
Genetic screening is available, and, in some cases, insurance will pay for it. Recently Medicare rules were changed to pay for genetic screening for women with ovarian cancer. Daughters and granddaughters of those with a BRCA1/2 mutation should consider genetic testing as well. If a mutation is present, the National Comprehensive Cancer Network has guidelines with regard to breast exams, imaging (mammography and MRI), risk- reduction surgery (breasts and ovaries) and psychosocial needs.
“While treatment options may be different (and tailored to risk reduction), therapy is often the same for BRCA-associated breast cancer patients and non-BRCA-associated breast cancer,” says Dr. Spierer. “Studies are ongoing to see if certain chemotherapeutic agents work better in BRCA-associated breast cancers than other chemotherapies.”
Reducing the number of women who die from ovarian cancer is more likely to result from genetic testing than from improved treatment options, according to Dr. Scott Rushing, a gynecologic oncologist with Compass Oncology (part of the US Oncology Network). Dr. Rushing says that while improved treatment can extend survival rates for women with ovarian cancer, “prophylactic oophorectomy (removal of healthy ovaries in women who have an elevated risk for ovarian cancer) is where we will move the meter on women dying of the disease.”
A Few resources:
• National Cancer Institute Fact Sheet for cancer risk and genetic testing: cancer.gov/cancertopics/factsheet/risk/BrCa.
• BreastCancer.org information on what to do if your genetic test results are positive: breastcancer.org/symptoms/testing/genetic/pos_results.
• Sharsheret: National not-for-profit organization supporting young Jewish women and their families facing breast cancer. sharsheret.org.
• Facing our Risk of Cancer: National nonprofit dedicated to improving the lives of individuals and families affected by hereditary breast and ovarian cancer. facingourrisk.org
• Cancer Survivors Network: support for patients and caregivers. csn.cancer.org.
