Genetic Counselling in Male Carriers of BRCA1 and BRCA2 Gene Mutations

Czech version

Authors: P. Plevová ^1,2; A. Hladíková ¹
Authors‘ workplace: Oddělení lékařské genetiky, Fakultní nemocnice Ostrava ¹; Lékařská fakulta Ostravské univerzity v Ostravě ²
Published in: Klin Onkol 2012; 25(Supplementum): 67-73

Overview

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.

Key words:
BRCA1 gene – BRCA2 gene – mutation – male carrier – prostate cancer – pancreatic cancer – colorectal cancer – gastric cancer

This study was supported by the Education for Competitiveness OP project:
CZ.1.07/2.3.00/20.0040.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Submitted:
15. 5. 2012

Accepted:
26. 5. 2012

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