BRCA1/2遺伝子検査に関する男性のプライマリケアにおける認識についてのユニークな視点

Men with BRCA1/2 genetic mutations have elevated risks for prostate, pancreatic, and breast cancers, yet recommendations for screening and risk assessment are unknown. Referral patterns reveal substantial under-identification and under-testing of at-risk men, with inconsistent documentation of paternal cancer history and low rates of referral to genetic services. Scarce research has examined men's perception of this gene mutation and associated variables. This study aimed to assess men's perception of BRCA1/2 genetic testing status, cancer risks, seriousness and susceptibility, and sources of health information. A cross-sectional survey with a convenience sample of men in the community without a history of cancer or a known BRCA 1/2 genetic mutation status. Susceptibility, seriousness, personal perceived risk, and sources of health information were examined. Among 234 men surveyed, 97% reported healthcare providers as their primary source of health information. Although 69% reported a family history of cancer, over half (58%) were unaware of their own or family's BRCA1/2 status, largely due to not knowing what BRCA1/2 was. While 52% perceived prostate cancer as a high-risk condition for men in general, only 22% viewed their own personal risk for prostate cancer as high. Most participants reported not knowing about BRCA1/2 gene mutations, and that they receive health related information from healthcare providers, therefore, primary care providers play a critical role in identifying those at risk by thorough assessment of patients' family cancer history and providing guidance for screening and surveillance.