Risk of breast cancer in male BRCA2 carriers

• Published in: Journal of medical genetics Vol. 47; no. 10; pp. 710 - 711
• Main Authors: Evans, D G R, Susnerwala, I, Dawson, J, Woodward, E, Maher, E R, Lalloo, F
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.10.2010; BMJ Publishing Group; BMJ Publishing Group LTD
• Subjects: Adult; Age Factors; Aged; Biological and medical sciences; BRCA2 Protein - genetics; Breast cancer; Breast Neoplasms, Male - epidemiology; Breast Neoplasms, Male - genetics; cancer: breast; England - epidemiology; Family; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes, BRCA2; genetic epidemiology; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Gynecology. Andrology. Obstetrics; Health risk assessment; Hormone replacement therapy; Humans; Kaplan-Meier Estimate; Male; Mammary gland diseases; Medical genetics; Medical sciences; Middle Aged; Molecular and cellular biology; Molecular genetics; Mutation; Pedigree; Prospective Studies; Retrospective Studies; Risk Assessment; Tumors; England; Human; Breast disease; Male; Risk; Breast cancer; Malignant tumor; Genetic disease; Mammary gland diseases; Genetic counseling; Risk factor; Genetics; Carrier; Cancer; Molecular genetics; Genetic epidemiology; Cancer: breast
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2009.075176

The risk of breast cancer for unaffected men who test positive for a BRCA2 mutation is based on very few retrospective studies. We have used both retrospective and prospective analysis in 321 families with pathogenic BRCA2 mutations. Three breast cancers occurred in male first-degree relatives after family ascertainment in 4140 years of follow-up suggesting a risk of breast cancer to 80 years of 8.9%. A second analysis excluding index cases identified 16 breast cancers in 905 first-degree male relatives on which Kaplan–Meier analysis was performed after assigning carrier status. This analysis confirmed that breast cancer risk in men was 7.1% (SE 5.2–8.6%) by age 70 years and 8.4% (SE 6.2–10.6%) by age 80 years.