The Danger of BRCA Mutations - Essay Example

 According to the authors, this study is the first step in the definition of differences related to location and kind of BRCA1 and BRCA2 mutations and awareness of mutation-specific dangers may offer critical information for the evaluation of clinical risk which will assist women and their physicians to establish the finest treatment plan for them. Everybody has BRCA1 and BRCA2 genes; which carry instructions for manufacturing proteins that are tasked with fighting tumors through the fixation of mistakes in the DNA. Nevertheless, some unfortunate individuals experience mutations in these genes that increase their vulnerability to getting ovarian and breast cancers as well as other cancers such as prostrate, pancreas, peritoneum, and fallopian tubes).

It is approximated that 1 in 300 to 1 in 800 individuals have one of these destructive mutations. Nonetheless, some populations have a much higher prevalence. Having BRCA1 and BRCA2 mutations raises the risk of having both ovarian and breast cancers by various percentages. A JAMA study enlisted over 30,000 women from 33 countries on six continents; all having BRCA mutations known to raise the risk of cancer. Over 90 percent of the women were white while almost 10 percent were Ashkenazi Jews. The women were categorized into “bins” based on where mutations occurred in the genome. They then examined to know how many women in every bin were diagnosed with ovarian/breast cancer while being monitored. It was discovered that 46 percent of the 19,581 women having a BRCA1 mutation tested positive for breast cancer, 12 percent tested positive for ovarian cancer,5 percent had both and only 37 percent were cancer-free. In addition, the average age during diagnosis was 39.9 years for breast cancer and more than 50 for ovarian cancer.

On the other hand, amongst the 11,900 women having  BRCA2 mutation 52 percent tested positive for breast cancer,6 percent had ovarian cancer,2 percent had both and 40 percent had neither during the entire period of the research. The average age for breast cancer in this category was 42.8 years and ovarian cancer had 54.5 years. The researchers also noted that as far as Cancer risk is concerned, all BRCA mutations are not equally created.

Finally, the researchers stressed that these risk estimations are not exact since they do not take into consideration the family history of a particular woman as well as other factors that affect life expectancy. The researchers further noted that their findings might not generalize all women having BRCA1 and BRCA2 mutations.