Kudos to Angelina Jolie for revealing her BRCA status to the world and for undergoing a prophylactic bilateral mastectomy that may well have saved her life. With that one op-ed, she single-handedly did more to promote awareness about BRCA gene mutations than all her BRCA buddies—myself included—could collectively do in a lifetime.
I’m not quite so appreciative, however, of the media frenzy that has surrounded Jolie’s announcement. Despite seemingly endless coverage (she is, after all, Angelina Jolie), the dearth of information about the nuances of these mutations and the associated cancer risks is exceedingly disconcerting--especially to those of us who have based our own healthcare and surgical decisions on these very nuances.
With that in mind, I offer you these BRCA basics:
- Every human being has BRCA (an acronym for BReast CAncer) genes. Healthy BRCA genes—without mutations—function as tumor suppressors, helping the body fight off rapid and unregulated cell growth. Women with a mutation in one of their BRCA genes have a significant risk of developing breast and/or ovarian cancer within their lifetime—often at an earlier age than those in the general population. BRCA+ men are at increased risk of developing breast and prostate cancer. Like women, men can inherit a mutated gene from their father or their mother and, also like women, there is a 50% chance they’ll pass the mutation along to their children—both sons and daughters.
- Although a woman’s risk of developing breast and/or ovarian cancer varies based on her personal family history and the specific gene mutation she carries (there are hundreds of different BRCA mutations), the risk of breast cancer can be as high as 87% (vs.12% in the general population) and as high as 50% (vs.1.5% in the general population) for ovarian cancer.
- BRCA mutations also are associated with increased risk of pancreatic cancer and melanoma, as well as with fallopian tube and primary peritoneal cancer (cancer in the lining of the abdomen).
- Unlike some genetic diseases, such as Tay Sachs, in which individuals must inherit two “recessive” genes—one from their mother (who is a carrier) and one from their father (who also is a carrier)—in order to develop a particular disease, BRCA gene mutations are “dominant.” Inheriting just one BRCA gene mutation puts an individual at increased risk of developing cancer at some point during his or her lifetime.
- Some people with BRCA mutations will never develop cancer—some because of luck of the draw and others because they elect to take chemoprevention drugs or to have prophylactic surgeries to remove their breasts and/or ovaries, greatly minimizing their risks. For those who do develop cancer, it can often be detected early because of the increased surveillance these individuals undertake.
- At a rate of approximately one in 500-800, the prevalence of BRCA mutations in the general population is exceedingly low. Within the Ashkenazi Jewish population, approximately one in every 40 people (2.5% of the population) is a carrier, and most carriers are not aware of their BRCA status.
- Approximately ninety to 95% of breast cancers are “sporadic” and are not caused by BRCA mutations. Likewise, 85% to 95% of ovarian cancers are not caused by BRCA mutations.
- BRCA testing is not appropriate for broad use within the general population and should only be undertaken in consultation with a genetic counselor, a professional trained to assess individuals’ personal cancer risks based on numerous factors, and to help determine appropriate risk management strategies.The National Society of Genetic Counselors can help you find genetic professionals in your area.
- It is important to know the possible signs of hereditary cancers, which include a family member 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 breast cancer include more than one relative on the same side of the family with any of these cancers: breast cancer, ovarian or fallopian tube cancer, prostate cancer, or pancreatic cancer.
For more information about hereditary breast and ovarian cancer, contact Facing Our Risk of Cancer Empowered (FORCE), a national non-profit organization solely devoted to providing resources and support to the hereditary cancer community.