As an Ashkenazi Jew, Susan was 10 times more likely to carry BRCA1 or BRCA2. Those gene mutations are passed on by either parent, and can carry an 85 percent risk of developing breast cancer and 44 percent risk of developing ovarian cancer.
Susan was relieved to have tested negative for the BRCA1 and BRCA2 mutations, after her mother died of ovarian cancer. So, despite her family history, Susan felt she did have to not worry about ovarian cancer.
However, while testing negative for BRCA1 and BRCA2 may have reduced Susan’s risk, but it didn’t provide a free pass to ignore her family history. She recently learned that additional mutations have been identified and are common among Jews, including CHEK2, PALB2, and genes associated with Lynch Syndrome, a hereditary disorder that leads to higher chances of colon cancer.
Preventative measures
Susan is now pursuing additional genetic testing and developing a plan with her medical team for ongoing surveillance. She might choose prophylactic surgery to remove her ovaries and fallopian tubes in order to mitigate her risk for developing ovarian cancer. Whatever her decisions, Susan will be fully informed and empowered when she makes them.
Ovarian cancer has few detectable symptoms before becoming advanced. These symptoms are often nonspecific, and can often be explained by other benign conditions. While there is no screening tool for ovarian cancer that has been proven to save women’s lives, genetic testing can offer critical information related to ovarian cancer.
If you have questions or are concerned about your risk or the implications of genetic testing, call Sharsheret and speak confidentially and at no cost with a genetic counselor. We will assist you in making informed decisions and in finding low-cost or free genetic testing. Women with a family history of ovarian cancer usually meet guidelines for genetic testing.
We can’t change the odds, but with breast cancer organizations like Sharsheret, no woman or man has to face breast or ovarian cancer alone.