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What Are BRCA1 Mutations?

BRCA1 stands for Breast Cancer or breast cancer susceptibility. BRCA1 gene isolated by researchers at the University of Utah and the BRCA2 gene discovery followed in 1995. You can get more information about brca1 and brca2 testing online at

Since then researchers and a company formed by them Myriad Genetics has developed and marketed a clinical test for BRCA 1 and 2 mutations in genes that can determine whether someone carries mutations that may put them at higher risk for some types of cancer, especially breast and ovarian cancer.

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

BRCA gene codes for a protein which is a tumor suppressor gene. This function of the protein in the breast and other tissues to repair damaged DNA is double-stranded. If the DNA can not be repaired BRCA proteins help cells with damaged DNA to kill. In cases where genes have a certain mutation of this network have a higher incidence of developing cancer associated with the VBE perceived inability to repair damaged DNA.

Testing for BRCA1 mutations is provided solely by the provider of a single test, Myriad Genetics Corporation. The cost of testing in people suspected of having a mutation is about $ 2975 and high prices, combined with patent protection aggressively by the patent owner has prompted a lawsuit by a doctor, the ACLU, and cancer patients and groups to cancel the legality fo patent human genes, including patents on BRCA1