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Breast Cancer » BRCA 1 & 2 Testing


While The majority of breast cancers are not related to currently known genetic mutations; however, approximately 7% of breast cancers and 11 - 15% of ovarian cancer cases are caused by mutations in genes called BRCA1 or BRCA2. Patients with a mutation in either the BRCA1 or BRCA2 genes have risks of up to 87% for breast cancer and up to 44% for ovarian cancer by age 70. Mutation carriers previously diagnosed with cancer also have a significantly increased risk of developing a second primary (new) cancer.

Genetic testing identifies patients who have mutations in the BRCA1 and BRCA2 genes. This information is useful when developing risk-reducing strategies for these patients.

Who should be tested for BRCA1 or BRCA2?

• Women with a personal history of both breast cancer and ovarian cancer

• Women with ovarian cancer and a close relative* with ovarian cancer or premenopausal breast cancer or both

• Women with ovarian cancer who are of Ashkenazi Jewish ancestry

• Women with breast cancer at age 50 years or younger and a close relative* with ovarian cancer or male breast cancer at any age

• Women of Ashkenazi Jewish ancestry in whome breast cancer was diagnosed at age 40 years or younger

• Women with a close relative* with a known BRCA1 or BRCA2 mutation

*Close relative is defined as first-degree relative (mother, sister, daughter) or second-degree relative (grandmother, granddaughter, aunt, niece)