The awareness and implementation of genetic testing for hereditary cancer syndromes has grown since the ground breading discover of the BRCA gene mutation. Certain variations of the BRCA1 gene lead to an increased risk for breast cancer as part of a hereditary breast-ovarian cancer syndrome. Only about 3%-8% of all women with breast cancer carry a mutation in BRCA1 or BRCA2. Similarly, BRCA1 mutations are only seen in about 18% of ovarian cancers (13% germline mutations and 5% somatic mutations).
Thus, while BRCA1 expression is low in the majority of these cancers, BRCA1 mutation is not a major cause of reduced expression. Hundreds of mutations have been identified in the BRCA1 gene, many of which are associated with an increased risk of cancer. Women with an abnormal BRCA1 or BRCA2 gene have up to an 80% risk of developing breast cancer by age 90; increased risk of developing ovarian cancer is about 55% for women with BRCA1 mutations and about 25% for women with BRCA2 mutations.
BRCA1 and BRCA2 are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA, or destroy cells if DNA cannot be repaired. They are involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double-strand breaks. If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer. BRCA1 and BRCA2 have been described as “breast cancer susceptibility genes” and “breast cancer susceptibility proteins”. Mutations can be in two genes which produce a hereditary breast-ovarian cancer syndrome.
Medcillary has an In Network solution with favorable contracts. Our laboratory partner has a streamlined and easy process for ordering tests, including supplying the pre and post test genetic counseling services for both the patient and practitioner. Our comprehensive test panel includes testing 94 genes versus a standard 32 genes. Data collected during testing is analyzed and translated into an easy-to-understand report. Comprehensive and detailed medical reports are written by experienced genetics professionals.
This test is highly utilized by OBGYNs and Oncologists. However, seen as a first line of prevention Primary Care physicians are beginning to help their patients by offering this test. The most advanced techniques are utilized for performing hereditary cancer genetic analysis and tumor analysis. The results of the tests offered help medical teams create personalized health management plans for