Mutation increases the risk of breast and ovarian cancer

Ovarian and Breast cancer are two devastating diseases that have caused the deaths of many females around the world. Ovarian cancer is the leading cause of death among gynecological cancers, while breast cancer is the most common invasive cancer among Australian women. A recent genetic discovery has highlighted a genetic mutation as a link to ovarian and breast cancer. Specific gene markers have been identified that if discovered will increase a women’s risk of both ovarian and breast cancer.

A mutation located on the BRCA1 and BRCA2 genes is the reason for this risk increase. The genes BRCA1 and BRCA2 are located on the arms of chromosomes 17 and 13. These genes, when functioning accurately are tumor suppressor genes, inhibiting tumor development. Both genes are distributed over approximately 100 000 base pairs of genomic DNA, encoding large negatively charged proteins. The presence of these mutations on the BRCA1 gene increases the risk of breast cancer to exceeding 80% and of ovarian cancer approaching 60%.

Genetic testing for these mutations has been available since 1996. If the mutation is found then the women may want to make the decision of removing their ovaries and fallopian tubes. This reduces the risk of getting ovarian cancer by a 90% (and cuts breast cancer risk in half if you're pre-menopausal).

Figure 1: Location of the BRCA1 Gene.

Information:

http://www3.interscience.wiley.com/cgi-bin/fulltext/118707122/HTMLSTART

http://www.ncbi.nlm.nih.gov/pubmed/9746681?ordinalpos=&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.SmartSearch&log$=citationsensor

Picture:

http://www3.interscience.wiley.com/cgi-bin/fulltext/118707122/HTMLSTART