This test is performed by sequencing the entire BRCA1 gene using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small insertions/deletions, and large deletions/duplications. This test maybe ordered separately or in combination with BRCA2. Note: Patient and physician or genetic counselor signatures on the NeoGenomics Consent for Hereditary Cancer Genetic Testing form are required. Testing will be put on hold until signatures are received.
Together, germline mutations in BRCA1 and BRCA2 cause hereditary breast-ovarian cancer syndrome (HBOC) and account for approximately 5-10% of all breast cancer cases, 13-18% of ovarian cancer, and 90% of familial breast and ovarian cancer. BRCA1 mutation carrier status confers higher ovarian cancer risk but lower pancreatic cancer and male breast cancer risks compared to BRCA2 positive status.
Peripheral blood: 5 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.