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BRCA Gene Mutations

Illustration showing an abnormality or mutation in a DNA strand of the BRCA gene

Normal BRCA genes work to repair cell damage, suppress tumor development and keep cells growing normally. They produce proteins that help repair damaged DNA. Everyone has BRCA1 and BRCA 2 genes.

When these genes have abnormalities or mutations, there is a greater risk of developing certain types of cancer. These damaged genes can be inherited from one or both of these genes from biological parents. When certain BRCA mutations are inherited from both parents, there is an increased risk of developing a rare form of anemia, a syndrome associated with childhood solid tumors, and acute myeloid leukemia.

Both men and women can have these genetic mutations, and the gene mutations can be passed on by either the mother or father to their daughters or sons, or both.

Compared to the general population, people of Ashkenazi Jewish descent have a higher incidence of BRCA1 and BRCA2 mutations. The Norwegian, Dutch, and Icelandic population also have a higher prevalence.

When women have BRCA mutations, they are most often diagnosed with breast or ovarian cancer. There is an increased risk for triple-negative breast cancer, a more aggressive and often difficult cancer to treat. Men with BRCA mutations are at a higher risk of developing breast, testicular, prostate and pancreatic cancer.

Compared to the general population, people of Ashkenazi Jewish descent have a higher incidence of BRCA1 and BRCA2 mutations. The Norwegian, Dutch, and Icelandic population also have a higher prevalence.

When women have BRCA mutations, they are most often diagnosed with breast or ovarian cancer. There is an increased risk for triple-negative breast cancer, a more aggressive and often difficult cancer to treat. Men with BRCA mutations are at a higher risk of developing breast, testicular, prostate and pancreatic cancer.

Other cancers that have been associated with BRCA mutations are cervical, uterine, fallopian tube, colon, peritoneal, gallbladder, bile duct and melanoma cancers.

Several methods of screening may be used to look for BRCA mutations. When a family member has been identified as having a BRCA1 or BRCA2 mutation, tests can look for a specific harmful mutation in the genes that are affected. Multigene testing is used to look for harmful mutations in many genes.

Oncologists also look at their patient’s personal and family history to determine if they are at a greater likelihood of having a harmful BRCA mutation. These include:

A patient who has had cancer in both breasts.
Breast and ovarian cancers in the same woman or in the same family.
A patient who has been diagnosed with breast cancer before the age of 50.
Multiple family members diagnosed with breast cancer.
Two or more primary types of cancers associated with BRCA1 or BRCA2 mutations in a single family member.
Male breast cancer.
A patient with Ashkenazi Jewish ethnicity.

When multiple family members have been diagnosed with the same cancer, testing for genetic mutations is recommended.

If willing to undergo testing, the first person that is still living, that has been diagnosed with the cancer will likely be the one that is tested to see if a genetic mutation exists. If that person tests positive for the genetic mutation, then insurance companies are more likely to cover the cost of additional testing for other family members who have the same cancer diagnosis or are at high risk.

Under the Affordable Care Act, insurance companies are required to pay for both genetic counseling and BRCA testing for women who meet the criteria outlined by the United States Preventive Services Task Force (USPSTF) guidelines. For individuals who qualify for this testing, insurance companies are required to cover the entire cost of genetic counseling and BRCA testing. Genetic counselors can help to determine if your genetic testing will be covered.

When recommended by a physician, most health insurance plans will cover the cost of genetic testing. Patients should verify with their insurance company to understand what type of services will be covered, prior to being tested.