Monday, March 15, 2010

BRCA cancer mutations (selected)

1.BRCA1 and BRCA2 encode proteins involved in repairing DNA damage. BRCA1 and BRCA2 mutations are reported to be responsible for most of inherited breast cancer and ovarian cancer in women. These same mutations for men have been reported to cause an increase risk for breast cancer and possibly prostate cancer as well. Three specific cancer associated mutations were found in people with Ashkenazi Jewish ancestry-185delAG in BRCA1, 5382insC in BRCA1 and 6174delT in BRCA2.These mutations are caused by deletion or addition of one or more letters in DNA sequence. These three mutations reported to be causing up to 80-90% of heredity ovarian and breast cancers in this ethnic group. The test showed that the Ashkenazi Jewish with 185delAG , 5382insC BRCA1, or 6174deIT BRCA2 mutation their risk of developing breast cancer is approximately 19% at age 40 but rises significantly to approximately 82% by age 80.
2.By someone telling you that you are more likely to acquire certain disease(s) and taking the steps to possibly preventing the disease from occurring is a benefit if you are able to prevent disease. Even if the disease did occur despite your efforts of trying to prevent it, if you were told exercise/eating healthy could prevent disease, you still benefit by trying by living a healthier lifestyle. However on the otherside, when people are told they might develop a disease(s) that are unpreventable and incurable could really upset somebody leading into depression and a meaningless life for many.
3. I wouldn’t get tested from 23andMe even if it were free. I live a healthy lifestyle as it as by eating well and exercising, so as far as preventing any disease am already doing so. Knowing what disease I might get would just be discouraging to me therefore I rather not know.

2 comments:

  1. However on the otherside, when people are told they might develop a disease(s) that are unpreventable and incurable could really upset somebody leading into depression and a meaningless life for many.

    The evidence currently available suggests this is a negligible problem. Even when people are informed that they carry risk variants for very severe diseases, this appears to have only a very brief impact on their quality of life before they return to their usual levels of anxiety/happiness.

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  2. WOW the Ashkenazi Jews were also the main carrier of the Canavans disease gene in my assignment. Good article

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