Cancer Research: What is the sensitivity and specificity of the BRCA1 and 2 mutations?
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Reviewed by:Dr. Nitika Sharma - BDS
Reviewed by:Dr. Rakesh Kumar - MBBS, MS
Nidii Berwal
Genes and genetic variations in our body contribute to the bodily functions and overall health. This also includes the possibility of having various diseases which are hereditary or developed in our body due to changes in the genetic codes. BRCA -1 & BRCA – 2 are two genes which are linked to Hereditary Breast and Ovarian Cancer. These genes produce tumor suppressor proteins which help to repair damaged DNA. When either of these genes have mutations, it increases the risk of cancer. BRCA 1 & BRCA 2 testing should be considered if: You had breast cancer at early age Your mother, sister, or daughter had breast cancer at early age or ovarian cancer. You are a woman with 1st degree relative who’s diagnosed with bilateral breast cancer before age of 50 The men in your family have strong history of breast/ ovarian cancer. Women who have BRCA 1 gene mutation are at higher risk of triple negative breast cancer while BRCA 2 carriers have breast cancers that are Estrogen Receptor positive. BRCA 1/2 mutations increase the risk of ovarian cancer.