In families with HBOC syndrome, there is typically a pattern of early onset breast cancer (before the age of 50 or premenopausal). Additionally, the family history may show more than one primary breast cancer in an individual, breast cancer in two or more generations, breast cancer in a male relative, and ovarian cancer, with or without a breast cancer diagnosis. Females with a BRCA1 mutation have a 50-85% risk of developing breast cancer and up to a 44% risk of developing ovarian cancer. Females with a BRCA2 mutation have a 40-70% risk of developing breast cancer and up to a 27% risk of developing ovarian cancer. Males with a BRCA1 or BRCA2 mutation can have up to a 5-10% lifetime risk for male breast cancer and an elevated risk of prostate cancer. Additionally, both males and females with BRCA1 or BRCA2 mutations may be at elevated risks for other cancers. Individuals with a mutation in the BRCA1 or BRCA2 gene have a 50% risk of passing on the mutation to their children.
The three mutations included in this panel are:
- BRCA1: Ex2:c.68_69delAG (aka 185 delAG/187delAG)
- BRCA1: Ex19:c.5266dupC (aka c.5266dupC/5382insC/5385insC)
- BRCA2: Ex11:c.5946delT (aka: c.6174delT)
According to the National Comprehensive Cancer Network (NCCN) recommendations, BRCA1 and BRCA2 testing is suggested for individuals with a personal or family history of any of the following:
- Early-onset breast cancer (<50 years of age), bilateral breast cancer or triple negative (PR/ER/HER2 negative) breast cancer (<60 years of age)
- Two primary breast cancers or a diagnosis of both breast and ovarian cancer in one individual
- Personal or family history of male breast cancer
- Ovarian cancer at any age
- Ethnicity with a higher mutation frequency (eg. Ashkenazi Jewish)
- Ford et al. (1998), Am J Hum Genet, 62:676-689.
- Shannon and Chittenden (2012), The Cancer Journal, 18(4):310-319.
- Janavicius (2010) EPMA J, 1(3):397-412.
- Confirmation of a clinical diagnosis of HBOC syndrome in those of Ashkenazi Jewish descent.
- Carrier testing in adults with a family history of HBOC syndrome in those of Ashkenazi Jewish descent.
Analytical Sensitivity: ~99%
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Hereditary Breast and Ovarian Cancer Syndrome: BRCA1/BRCA2 Deletion/Duplication Panel
- Hereditary Breast and Ovarian Cancer Syndrome: BRCA1/BRCA2 Gene Sequencing Panel
- Hereditary Breast and Ovarian Cancer Syndrome: BRCA1/BRCA2 Gene Sequencing and Deletion/Duplication Panel