University of Toronto


Recruitment Complete


Although the BRCA2 gene is known to confer very high risks of breast and ovarian cancer in female mutation carriers, there is evidence to suggest that cancer risks in male mutation carriers may approach those seen in women.  Furthermore, recent evidence has indicated worse prognosis and survival of men with BRCA2-associated prostate cancer further highlighting the necessity of identifying these men.  To date, no studies have systematically tested men for BRCA2 mutations, to definitively determine risks of cancer.  Moreover, no studies have been performed on a large scale to investigate cancer-related prognosis and survival.  The objective of this study is to investigate male BRCA2-associated cancers to quantify cancer risks, define the types of cancer, and investigate cancer-related prognosis and survival.  The information gained from this study is necessary to define cancer risks and spectrum, which is a pre-requisite to inform screening strategies for men.  Furthermore, the preliminary evidence to suggest poorer prognosis and survival of BRCA2-associated prostate cancers is of high clinical significance.  If confirmed, this finding could result in a paradigm shift and lead to clinical recommendations to consistently offer testing to males at risk for a BRCA2 mutation as part of standard medical practice, which is not currently the case.  Furthermore, in the era of personalized medicine, it is possible that information on BRCA2 mutation status may inform treatment strategies, and ultimately lead to improved prognosis and survival in these men.