In the future genetic testing to detect high/moderate susceptibility genes for breast cancer (BC) and other cancers will be generalized to the entire population. Until this happens, it is important to improve the current selection criteria for germline testing. We studied the genetic alterations of a total of 133 BC patients (32 women with bilateral BC: total of 165 BCs) in order to determine the molecular alteration responsible for their intense familial aggregation of cancer. We found 44 women with inherit mutations in the BRCA1 gene and 34 in the BRCA2 gene. We compared the series of BRCA1/2-positive BC patients with the rest of the BC patients. Based on the differences found in our series, we propose that the current guidelines for germline BRCA1/2 testing should also include the following criteria: 1) All BC patients with certain histological subtypes: medullary and metaplastic, as well as those that present a specific type of tumor frequently classified as "infiltrating ductal carcinoma of no special type" by pathologists but which we identify as "infiltrating ductal carcinomas with rows and necrosis" (since it has peculiar and easily recognizable histological features: distribution in cords and solid nests of cells with large areas of necrosis, abundant atypical mitoses, and highly pleomorphic nuclei); 2) All families with at least one relative with multiple cancer: especially when the cancer associated with BC is gynecological (BRCA1) or digestive cancer (BRCA2), consider in the presence of any other type of low prevalent cancer (gliomas, leukemias, melanomas); 3) All BC patients whose molecular subtype is triple negative (BRCA1), consider with the luminal B (HER2-negative) if there is familial aggregation of cancer (BRCA2).

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Male breast cancer (BC) comprises less than 1% of all BCs. Family history of BC and the presence of genetic mutation are the main risk factors. Our objective is to estimate the prevalence of familial cancer aggregation and genetic mutations in a series of cases of male BCs. We studied a series of male BC patients from the health area of Vigo diagnosed between October 1997 and December 2020. 72 men with primary BC were included. The mean age of all male BCs was 69.0 years, similar to those of hereditary BCs (66.2). We observed a high frequency of bilaterality (4%). We highlight the underuse of genetic testing: only in 14 men (19.4%). The most frequently detected pathogenic mutation (n = 5: 7%) was in the BRCA2 gene, and 3 of them presented the same type of mutation (c.9382C> T (p.Arg3128Ter) in exon 25). We also detected a pathogenic mutation in the BRCA1 gene and the MUTYH gene. 34.6% of male BCs that were not genetically studied had an intense familial aggregation of cancer that was compatible with a hereditary cancer syndrome. 33.3% men had at least one other malignant neoplasm in addition to their BC, with prostate adenocarcinoma being the most frequent associated neoplasia (n = 8). Up to 15.3% were diagnosed with 3 or more malignant neoplasms. It is necessary to increase the genetic testing in male BC in order to o identify hereditary BC and offer the pertinent preventive measures to them and their families.

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