Abstract
BACKGROUND: Men with germline BRCA1/2 mutations are not well studied compared to their female counterparts. This study evaluates the cancer characteristics, family history of cancer, and outcomes of male BRCA1/2 mutation carriers. METHODS: All men with germline BRCA1/2 mutations who attended genetic assessment between October 1995 and October 2019 at the Medical University of Vienna were identified. Clinicohistopathological features, family history of cancer, and outcomes were assessed by mutation status. RESULTS: Of the 323 men included, 45 (13.9%) had a primary cancer diagnosis, many of whom were BRCA2 carriers (75.5%). Breast cancer (BC) was the most common cancer (57.8%) followed by prostate cancer (15.6%). Invasive ductal carcinoma and hormone receptor positive tumors were the most common. Among 26 BC-affected patients, 42% did not have any relatives with cancer. Parent of origin was only known in half of the 26 men, with 42% of them inherited through the maternal lineage versus 8% through the paternal. BRCA2 carriers and those with a family history of BC had worse overall survival (20 y vs. 23 y BRCA1 carriers; P = 0.007; 19 y vs. 21 y for those without family history of BC; P = 0.036). CONCLUSION: Male BRCA2 carriers were most likely to develop cancer and had worse prognosis. In our dataset, BC was the most common cancer, likely due to referral bias. Not all mutation carriers present with BC or have a family history of cancer to warrant genetic testing.
Highlights
BRCA1 and BRCA2 genes are inherited in an autosomal dominant fashion
It has been estimated that the average man has less than 1% lifetime risk of developing breast cancer (BC) [7], but for men who harbor a BRCA1- or BRCA2- mutation, this risk amplifies significantly [8]
Our results show that BRCA2 mutation carriers had a significantly more first- and second-degree relatives with Breast cancer (BC) and ovarian cancer
Summary
BRCA1 and BRCA2 genes are inherited in an autosomal dominant fashion. Both men and women have an equal chance of inheriting either of these genes and could pass them on to their daughters or sons. While there are numerous studies investigating the cancer risks and outcomes of female carriers [1,2,3], the cancer characteristics of male mutation carriers are based on just a handful of studies [1,2,4,5,6]. There is, in parallel, an increasing appreciation of differences in the tumor biology and clinical behavior between female and male BC, thereby highlighting the need for studies focused on this unique population. Men with germline BRCA1/2 mutations are not well studied compared to their female counterparts. This study evaluates the cancer characteristics, family history of cancer, and outcomes of male BRCA1/2 mutation carriers.
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