Mutational spectrum of p53 mutations in primary breast and ovarian tumors

Abstract

Breast and ovarian cancers, like other cancers, occur due to genetic damage. Research aimed to determine the specific genes involved in the development of breast and ovarian cancers will help to understand how normal breast and ovarian epithelial cells escape regulation of proliferation, apoptosis and senescence. It was determined that approximately 10% of ovarian cancers and 20-30% of breast cancers arise in women who have inherited mutations in cancer susceptibility genes such as BRCA1, BRCA2 and other DNA repair genes. The ability to perform genetic testing permits the identification of women at increased risk who can then be offered preventive strategies. The vast majority of ovarian and breast cancers are sporadic, presumably resulting from the accumulation of genetic damage over lifetime. Several genes involved in breast and ovarian carcinogenesis have been identified, most notably the p53 tumor suppressor. The recent availability of expression microarrays has facilitated the simultaneous screening of thousands of genes and this will extend further the understanding of molecular events involved in the dynamic development of ovarian and breast cancers. Then, all this knowledge could be translated into effective screening, surveillance, prevention, and treatment strategies in the future.