What is the BRCA Gene Mutation and How Does It Relate To Breast Cancer?

Breast cancer susceptibility protein type 1 and 2, also known as BRCA1 and BRCA2, are tumor suppressor genes that help repair DNA and act to prevent cancer. Everybody inherits a pair of these genes, one from their mother and the other from their father. However, if there are mutations in these genes, damaged DNA cannot be repaired properly and this increases the risk of developing breast and ovarian cancer.

Females who have inherited mutations of these genes are at higher risk for developing breast cancer and ovarian cancer than are people without such genetic changes. In fact, inherited BRCA gene mutations are responsible for about 5-10 percent of breast cancers and 10-15 percent of ovarian cancers.

Fortunately, genetic testing now exists to determine if a person is a carrier of these gene mutations. The BRCA blood test is a genetic test that uses DNA analysis to identify mutations in the BRCA1 and BRCA2 gene.

Known female carriers of BRCA gene mutations should undergo a more vigilant screening process, such as annual screening mammograms and breast MRIs. Alternatively, known carriers of the BRCA gene mutation, such as, Oscar award winning actress Angelina Jolie can also opt for preventative mastectomies, commonly referred to as a prophylactic mastectomy. In fact, a study in the International Journal of Cancer found 18% of women chose this approach. Also, more than half of these women had their ovaries removed, which reduces the risk of both breast and ovarian cancers by removing the body's major source of estrogen. Angelina Jolie also recently performed this surgery. Men can also carry the BRCA mutations and may pass these mutations on to their children. Male carriers of the BRCA mutations are at increased risk for male breast cancer and prostate cancer.

Ideal candidates who would benefit from genetic testing include persons with one or more of the following:

  • A personal or family history of breast and/or ovarian cancer.

  • A personal or family history of early onset breast cancer.

  • A family history of male breast cancer.

  • Ashkenazi Jewish ancestry.

Having a risk factor, or even several does not mean that you will develop breast cancer. If you think you may be at risk, talk with your doctor to decide what game plan would be best for you.

If you have been diagnosed with breast cancer or tested positive for a genetic mutation, it is strongly encouraged that all first degree relatives undergo genetic testing, since they are at an increased risk of developing these cancers. Early action and preventative measures can help overcome these risk factors. The best defense is a good offense! This can be done through the assistance of a genetic counselor.

Although BRCA testing requires only a blood sample, all risks and benefits should be considered prior to deciding on genetic testing. There are potential physical, emotional and financial impacts of knowing your genetic status. That is why testing for the BRCA mutation is recommended only for people who fall into one of the categories listed above.

There are many different options if you test positive for these genetic mutations and it is important to weigh all the risks and benefits before deciding what approach is best for you.

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