Genetic Counselling in Male Carriers of BRCA1 and BRCA2 Gene Mutations


Klin Onkol 2012; 25(Suppl 1): 67-73. DOI: 10.14735/amko20121S67.

BRCA1 and BRCA2 gene mutations cause hereditary breast and ovarian cancer syndrome. The disease has autosomal dominant mode of inheritance, and both genders have the same probability of inheriting the trait. However, the phenotype is different in males and females, and the risk of cancer is significantly lower in males. Although the results of some studies are conflicting, it has been clearly shown that male BRCA mutation carriers are predisposed to an increased risk of breast, prostate, pancreas and stomach cancer when compared to the general population. With respect to the routinely performed predictive testing of healthy persons in families with BRCA gene mutations, results of these studies are taken into consideration. Screening programs are offered to the patients with the goal of early detection of cancer.

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