Management of men with high genetic risk of breast cancer. Is there a place for screening or risk-reducing surgery? Case report and review.

Purpose: Male breast cancer is uncommon, accounting for approximately 1% of breast cancer cases. Among its established risk factors, genetic etiology is recognized as predominant. While there is an abundant literature on surveillance and other risk-reduction strategies for women with high-risk breast cancer, only few studies are available on men with the same genetic condition. Observation: We report the case of a 59-year-old man with a family history of four cases of breast cancer in first- and second-degree relatives, including two male cases. The genetic analysis revealed the presence of a pathogenic variant in the BRCA2 gene. Despite the normality of breast imaging, the patient requested bilateral breast risk-reducing surgery. This surgery consisting in bilateral mastectomy was performed after validation in a multidisciplinary meeting. The pathological examination revealed a ductal carcinoma in situ with intermediate grade in the right breast. Discussion: In families at high risk for breast cancer, pathogenic BRCA2 variants are responsible for 60–70% of male breast cancer cases and the cumulative risk is about 8% at 80 years of age. Breast cancers associated with a pathogenic BRCA2 variant have a poor prognosis, characterized by a lack of progesterone receptor, a more frequent overexpression of HER-2 and high grade. According to recent guidelines, education in breast self-examination is recommended from the age of 35, as well as annual clinical examination. Yearly screening by mammography is possible, only in men with gynecomastia, but there are disparities in screening recommendations. Risk-reducing breast surgery is not currently recommended. It is described occasionally in the literature, always for men with a pathogenic BRCA1 or 2 variant and a personal history of breast cancer, in the context of contralateral surgery. Our observation is, to our knowledge, the first risk-reducing surgery in a man, allowing the removal of an occult ductal carcinoma in situ. Conclusion: Breast management in men does not necessarily involve imaging. Rare are the men requesting for bilateral risk-reducing surgery. In this context, health professionals have an important role in the patient's decision making. It can be accepted, as for our patient, only after discussion of the case in a multidisciplinary meeting, considering the personal and family history