Hereditary Breast and Ovarian Cancer Panel

Women have a 12% lifetime risk of developing breast cancer, and a 1% lifetime risk of developing ovarian cancer.  Most cases of breast or ovarian cancer are sporadic; however, 5-10% of breast and ovarian cancers are hereditary.  Germline pathogenic variants in the BRCA1 and BRCA2 genes remain the most common cause of familial forms of breast and ovarian cancer. It is estimated that about 72% of women that are carriers of a pathogenic variant in BRCA1 will develop breast cancer and about 44% will develop ovarian cancer by the age of 80.  It is also estimated that about 69% of women that are carriers of pathogenic change in BRCA2 will develop breast cancer, and about 17% of women will develop ovarian cancer by the age of 80. Rare pathogenic variants in CDH1, PTEN, STK11 and TP53 genes, associated with hereditary diffuse gastric cancer, Cowden syndrome, Peutz-Jeghers syndrome and Li Fraumeni syndrome, respectively, can confer a high risk of breast cancer. Intermediate breast cancer risk genes, such as ATM, CHEK2, and PALB2, have also been reported. Inherited pathogenic variants in other genes, such as RAD51C, RAD51D and BRIP1, and mismatch-repair (MMR) genes (MLH1, MSH2, MSH6, PMS2, EPCAM) that cause Lynch syndrome when mutated, also influence the risk of ovarian cancer. This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.