Nine Things You Need to Know About BRCA Genetic Mutations

I recently celebrated a milestone birthday. In an email exchange with a friend a few days beforehand, I wrote: “I don’t know how I got to be this old, but I am grateful for every birthday — especially because I know how easily it might not have turned out this way.”

In 2010, less than three months after losing my mom to extremely aggressive metastatic breast cancer, I learned I carry a BRCA2 genetic mutation. The faulty gene — that our family now knows I inherited from her and caused her disease — increases my lifetime risk of certain types of cancers, including breast, ovarian, pancreatic, and melanoma. Ovarian and pancreatic cancers are especially difficult to diagnose early on — when a cure is most feasible.

Forty-seven at the time, I was convinced rogue cells already were rampant throughout my body and alarmed by the gaping holes our lack of knowledge was highlighting in my own healthcare routines: According to medical guidelines, I should have been getting biannual breast exams and MRIs alternating with mammograms starting at age 25 and had my ovaries and Fallopian tubes removed by age 40.

In honor of Jewish Genetic Screening Awareness Week, here are nine things you should know about inherited BRCA genetic mutations — and what you can do to find out if there’s one lurking in your family tree. These facts could save your life or the life of someone you love, so read carefully.

1. Every human is born with BRCA (an acronym for BReast CAncer) genes. Healthy BRCA genes — without mutations — serve as tumor suppressors, helping the body fight off rapid and unregulated cell growth. Women with a BRCA mutation have a significant lifetime risk of developing breast and/or ovarian cancer — often earlier than those in the general population. Men with a BRCA mutation are at increased risk of breast and prostate cancer. Like women, men can inherit a mutated gene from either their father or their mother and, also like women, have a 50% chance of passing the mutation to each of their children — both sons and daughters.
2. Although a woman’s risk of developing breast and/or ovarian cancer varies based on her personal family history and the specific BRCA gene mutation she carries, lifetime risk of breast cancer can be as high as 87% (vs.12% in the general population) and for ovarian cancer, as high as 50% (vs.1.5% in the general population). There are hundreds of different BRCA mutations and other faulty genes that increase risk of developing various types of cancer, and scientists are identifying new ones all the time.
3. BRCA mutations also are associated with increased risk of Fallopian tube and primary peritoneal cancer (cancer in the lining of the abdomen) in women and with pancreatic cancer and melanoma in both women and men.
4. In genetic diseases such as Tay Sachs and cystic fibrosis, the condition develops when both parents are carriers and individuals inherit two “recessive” genes — one from each parent. BRCA gene mutations, by contrast, are “dominant,” which means that inheriting one mutated BRCA gene from a parent is sufficient to increase one’s lifetime risk of developing certain types of cancer.
5. Some people with BRCA mutations will never develop cancer — either because of luck of the draw or because they elect to take chemoprevention drugs or have prophylactic surgeries to remove their breasts and/or ovaries and Fallopian tubes, greatly minimizing their risks. For those who do develop cancer, it often can be detected early because of the increased surveillance these individuals undertake.
6. Approximately 90 to 95% of breast cancer cases are “sporadic,” which means they are not caused by a BRCA mutation. The same is true for 85% to 95% of ovarian cancer cases.
7. In the general population, roughly one in 500-800 individuals carries a BRCA mutation, making the condition exceedingly rare. However, within the Ashkenazi Jewish population (individuals with at least one Jewish grandparent from Central or Eastern Europe, which includes most North American Jews), approximately one in every 40 people — 2.5% of the population — carries a BRCA mutation. Most carriers are unaware of their BRCA status, and research has shown that more than half of Ashkenazi Jews who test positive for a BRCA mutation have no personal or family history of cancer.
8. It is important to know the possible signs of hereditary cancers, which include a family member diagnosed with ovarian or Fallopian tube cancer at any age; breast cancer before age 50; breast cancer in both breasts at any age; both breast and ovarian cancer; triple negative breast cancer; or male breast cancer. Other signs of hereditary cancer include more than one relative on the same side of the family with breast cancer; ovarian or Fallopian tube cancer; prostate cancer; or pancreatic cancer.
9. In 2019, the National Comprehensive Cancer Network (NCCN) updated its guidelines to indicate that all adult men and women of Ashkenazi Jewish descent may be offered testing for three commonly inherited mutations in the BRCA1 and BRCA2 genes. Genetic testing should only be undertaken in consultation with a certified genetic counselor, a professional trained to assess individuals’ personal cancer risks based on numerous factors, interpret test results in a field that moves at lightning speed, and help determine appropriate risk management strategies when necessary. The National Society of Genetic Counselors can help you find genetic professionals in your area.

Yes, every birthday is a blessing and so is the knowledge that an inherited genetic mutation increases my lifetime risk of developing certain cancers. This knowledge empowered me to make difficult, risk management decisions and, today, to take other ongoing steps to protect my health and ensure an annual trip around the sun for many years to come.

For more information about hereditary cancer, contact Facing Our Risk of Cancer Empowered (FORCE), a national non-profit organization solely devoted to providing resources and support to individuals and families affected by hereditary cancer. To order an at-home genetic testing kit that includes a consultation with a genetic counselor to review the results, visit JScreen — and save $72 through February 28, 2023, with coupon code JGSAW23.

Jane Herman

Jane E. Herman, a writer, editor, and storyteller, crafts content for websites, blogs, C-suite messages, donor communiques, marketing materials, annual reports, and more. She is the senior writer at JCC Association of North America and previously served for more than 17 years as a communications professional at the Union for Reform Judaism. She blogs at JanetheWriter.com.