Genetic Testing in Women with a History of Breast or Ovarian Cancer

18 August 2017

Approximately 15%  of women diagnosed with breast or ovarian cancer will be found to carry a mutation in one or more genes that predisposes to the cancer. The most familiar are the BRCA 1 and BRCA 2 genes. These are tumor suppressor genes, if mutated, they do not function properly and can result in a higher likelihood of cancer development. Most often, we see these abnormal gene mutations in women under the age of 50, and in those with a strong family history of breast and/or ovarian cancer. However, because the mutation may be present in a family member without disease, guidelines recommend testing even without a family history in patients that meet criteria (NCI BRCA1 / BRCA2 Genetic Testing Fact Sheet).

A study recently published in the Journal of Clinical Oncology found that fewer than 1 in 5 women with a history of breast or ovarian cancer underwent genetic testing, and many had not discussed the possibility with their treatment team. Identifying patients who carry the genetic abnormality can change the surgical recommendations in a patient who has been diagnosed with breast cancer (consider double mastectomy due to increased future risk) as well as have a potential impact on family members. Take a few minutes to review the fact sheet linked above, and be aware of your family history. If genetic testing is not offered, ask whether or not it should be considered in your case.

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