BRCA1 Mutations

BRCA1 stands for Breast Cancer, or breast cancer susceptibility. The BRCA1 gene was isolated by researchers at the University of Utah, and the BRCA2 gene discovery followed in 1995. Since then these researchers and a corporation formed by them Myriad Genetics have developed and marketed a clinical test for mutations in the BRCA 1 and 2 genes that can determine if an individual carries a mutation that can put them at high risk for several cancers, especially breast and ovarian cancer.

If a woman has a high risk gene mutation of BRCA1, they have a risk of developing breast cancer of up to 60% by age 90, and a risk of developing ovarian cancer of up to 55%. Most patients with the BRCA gene mutations have a family history of breast or ovarian cancer or both.

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The BRCA gene codes for a protein that is a tumor suppressor gene. This protein functions in breast and other tissues to repair damaged double stranded DNA. If the DNA cannot be repaired the BRCA protein helps kill cells with damaged DNA. In cases where the gene has certain mutations these tissues have a higher incidence of developing cancer that is felt to vbe related to the inability to repair the damaged DNA.

The testing for BRCA1 mutations is provided only by a single test provider, Myriad Genetics corporation. The cost of testing in a person suspected of having a mutation is approximately 75 and the high price, combined with the aggressive patent protection by the owners of the patent have prompted a lawsuit by physicians, the ACLU, and cancer patients and groups to overturn the legality fo the patent of human genes including the patent on the BRCA1 and 2 genes.

BRCA1 Mutations

Dr Pullen MD

medical blog

BRCA Gene Patent

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