BRCA Gene Mutations: Exploring the Implications

Posted by Lewisville / Flower Mound Oncology on July 20th, 2016

Genetic testing can open the door to potentially lifesaving interventions for women at much higher risk for the development of breast or ovarian cancer. Making certain patients are properly counseled and understand their risks when mutations are found, however, is an ongoing concern for clinicians.

There are two main genetic mutations associated with breast and ovarian cancers: BRCA 1 and BRCA 2. Both technically enhance the risk of developing hereditary breast and ovarian cancer. But, the types of disease promoted by the two mutations can vary greatly. This, in turn, could mean the need to consider slightly different interventions. In many cases though, researchers say, the mutations are lumped together when they should not be.

BRCA1 mutations carry an average cumulative risk of 67 percent for breast cancer and 45 percent for ovarian cancer by the age of 80. Women who are carriers of the BRCA2 mutation see an average cumulative risk of 66 percent for breast cancer and 12 percent for ovarian cancer. BRCA1 mutations are known to spawn high-grade, triple-negative cancers. The BRCA2 mutation creates mostly ER-positive forms of the disease.

The bottom line is the two mutations are different and they each pose their own risks. The prognostic and treatment implications between the two are significant as are the recommended interventions. Preventative ovary removal, for example, might be more strongly indicated based on genetic findings of BRCA 1 mutations. Even so, some women with BRCA 2 mutations are urged to undergo the procedure sooner than they might need to.

The discovery of BRCA 1 and BRCA 2 mutations does indicate a need for women to undergo genetic counseling to explore their risks and the potential preventative interventions that might be considered. Researchers, however, urge clinicians to be certain to separate the recommendations based on the specific mutation found. The differences are significant and understand them can help some women maintain a higher quality of life as a result.

The use of genetic testing, especially after a positive diagnosis of breast cancer, is on the rise. Women who fin they are carriers for BRCA mutations will discover there are options available to them to help avoid the worst implications associated with genetic cancer syndromes. The best recommendations, however, do hinge on the specifics of the mutation found.

Women who are concerned about genetic links to cancer should discuss their options with their healthcare providers. Genetic testing and counseling may be advised to help ensure informed treatment options.

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Lewisville/Flower Mound Oncology Group, a division of Choice Cancer Care – is an independently owned and operated oncology practice that is completely focused on unique, comprehensive patient care.