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Aurora magazine

What are the BRCA genetic mutations?

Many women have discovered the BRCA mutations Angelina Jolie when she underwent preventive mastectomy and oophorectomy. A decision according to many radical, due to the diagnosis of a particular mutation in its DNA that would increase in an important way the risk of cancer. The mutation is precisely that of the BRCA genes.

The mutation in the BRCA 1 and BRCA 2 genes causes the development of a mutated version of the corresponding proteins. Under normal conditions, these would be part of a variety of repair proteins. Their task would erase damage from DNA of cells, made by external factors such as smoking or radiation. In the case of mutations, the cells of the breast and ovaries accumulate errors in their DNA and turn into cancer cells. The mutation of BRCA 1 and BRCA 2 genes is caused most often by environmental factors, but in some cases is due to heredity.

Abnormalities in genes BRCA 1 and BRCA 2 are connected either to breast cancer than to the ovary. Who presents the anomaly has a risk of developing a breast cancer that goes from 60% to 90%. As for the ovarian cancer risk ranges between 15% and 50%. The odds depend on the type of anomaly and the family history and, if particularly high, may lead to preventive mastectomy and oophorectomy. These choices, although very radical, are sometimes the only way to face a sentence otherwise almost certain.

Breast cancer is the most common among women and is also one of the easiest to deal with. Five years after diagnosis, 89% of patients survive. Ovarian cancer is much less common but far more deadly. The symptoms are hard to detect and to five years of diagnosis, only 46% of patients survive. That's why it is good that women with a family history marked by such tumors carry specific DNA testing. There are also monitoring of tumor markers techniques, so as to check for any suspicious elevations.