Reproductive health of men in families with hereditary breast and ovarian cancer syndrome

hereditary breast and ovarian cancer syndrome is a hereditary condition. The cause of this syndrome are mutations in the BRCA1/2 genes. The frequency of these mutations is the same in men and women. The purpose of this study: to assess the reproductive health of men in families with hereditary breast and ovarian cancer syndrome. The study included first-degree relatives of 172 patients with verified ovarian cancer stages I–II. Methods. Identification of mutations in the BRCA 1/2 genes was carried out by the molecular genetic analysis complex "Oncogenetics BRCA" (OOO NPF "Litech", Moscow, Russia). Results. The distribution of BRCA1/2 mutations approximately corresponds to autosomal dominant inheritance. Among the sons and brothers of carriers of BRCA1/2 mutations, 97 carriers and 115 non-carriers were identified. In male relatives of BRCA1/2 mutation carriers, BRCA1 mutations predominate, accounting for 78% of all detected mutations, with the 185delAG mutation accounting for 35.05% of all registered mutations. Carriers of the 185delAG and 6174deIT mutations have high testosterone levels. With the 5382insC, Cys61Gly and 185delAG mutations, the luteinizing hormone level is low. Carriers of the 185delAG mutation have low luteinizing hormone levels, and in carriers of the 5382insC and Cys61Gly mutations, low luteinizing hormone levels are accompanied by low testosterone levels. In males carrying BRCA1\2 mutations, changes in spermatogenesis are observed, including azoospermia – with mutations 5382insC and 6174deIT, a high level of sperm agglutination is observed. The data obtained allow us to expand our understanding of the genetic regulation of spermatogenesis.

hereditary ovarian cancer, BRCA1\2 mutations, testosterone, luteinizing hormone, spermatogenesis