BRCA1 and BRCA2 Sequencing and Deletion/Duplication Testing


Related Gene(s): BRCA1, BRCA2

Hereditary breast and ovarian cancer (HBOC) is an autosomal dominant cancer predisposition syndrome caused by germline BRCA1/2 mutations. Mutations in these two highly penetrant genes increase the chance for cancer of the breast, ovaries, fallopian tubes, pancreas, and prostate. Studies suggest female BRCA1 mutation carriers have a 57-87% risk to develop breast cancer and a 39-40% risk to develop ovarian cancer by age 70. Similarly, male BRCA1 mutation carriers have a cumulative breast cancer risk of 1.2% by age 70.

Similar studies suggest female BRCA2 mutation carriers have a 45-84% risk to develop breast cancer and an 11-18% risk to develop ovarian cancer (including primary peritoneal and fallopian tube) by age 70. Male BRCA2 mutation carriers have up to a 15% prostate cancer risk and a cumulative breast cancer risk of 6.8% by ages 65 and 70, respectively. Furthermore, BRCA1/2 mutation carriers are at an increased risk for melanoma, pancreatic cancer, and possibly other cancers. Cancer risks are further modified by family history, reproductive choices, lifestyle and environmental factors, and other genetic factors.


This test will be available soon. For additional information, please contact us.