Brca 1 & 2 Mutation Testing for Breast Cancer Essay

1394 WordsMay 6, 20136 Pages
My grandmother is a breast cancer survivor. My grandmother’s middle sister is a breast cancer survivor. My grandmother’s youngest sister was not as lucky. According to Internet Journal of Advanced Nursing Practice “an estimated 5 to 10% of all breast cancers are inherited, and the breast cancer susceptibility genes BRCA1 and BRCA2 have been identified as being responsible for 21 to 40% of these cases” (Jimenez-Johnson, 2009, p. 1). “More than 1,000 mutations in the BRCA1 gene have been identified, many of which are associated with an increased risk of cancer (particularly breast cancer in women). Most of these mutations lead to the production of an abnormally short version of the BRCA1 protein, or prevent any protein from being made from one copy of the gene. Other BRCA1 mutations change amino acids in the protein or delete large segments of DNA from the BRCA1 gene. Researchers believe that a defective or missing BRCA1 protein is unable to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can allow cells to grow and divide uncontrollably and form a tumor” (Plaut, 2011, p. 1). “Alterations in Chromosome 13 and 17 are the common causes of BRCA mutations. Chromosome 17 contains the marker for the BRCA 1 gene, and accounts for 40-50% of hereditary breast cancer. Alterations in Chromosome 13 are responsible for the BRCA2 gene, and accounts for 33-50% of hereditary breast cancer” (Brand, 2008, p. 1). A woman’s lifetime risk of developing breast cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2. “According to estimates of lifetime risk, about 12 percent of women in the general population will develop breast cancer sometime during their lives compared with about 60 percent of women who have inherited a harmful mutation in BRCA1 or BRCA2” (Plaut, 2011, p. 2). So I ask myself every day,

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