Interest of individuals from BRCA families to participate in research studies focused on male BRCA carriers

Tuya Pal, Susan Vadaparampil, Jongphil Kim, Yan Xu, Sue Friedman, Steven A. Narod, Kelly Metcalfe

Although men and women are equally likely to carry a mutation in the BRCA1 and BRCA2 (BRCA) genes, the clinical significance of mutations in men remains incompletely defined. We sought evaluate interest of individuals from BRCA families to participate in a research study focused on men from BRCA families. Through an anonymous survey posted on the website of the BRCA patient advocacy organization, facing our risk of cancer empowered (FORCE), data was collected over a 21 month period (August 2010-June 2012) from members of BRCA families. The survey was completed by 405 individuals with known BRCA mutations, including 150 males and 232 females. The median age of survey respondents was 49 years (50 years for males and 48 years for females). Overall, 84% of survey respondents indicated prior BRCA mutation testing (95.2% females, 67.3% males). For the overall group of survey respondents, 84% (86% females, 84% males) indicated they would tell their male relatives about a research study focused on high risk men from BRCA families, and 53% (39% females, 74% males) thought that their male relatives would be interested in participating in such a study. Despite limited studies focused on men from BRCA mutation positive families, our survey suggests that both male and female family members are highly interested in focused on male BRCA mutation carriers. The importance of further studying this topic is underscored by emerging literature that suggest cancer surveillance and treatment decisions may improve outcomes in men with BRCA mutations.