Risk of breast cancer in male BRCA2 carriers

D Gareth Evans (1) , Insiya Susnerwala (1) , John Dawson (1) , Emma Woodward (2) , Eamonn R Maher (3) , Fiona Lalloo (4)

1 St Mary's Hospital
2 Birmingham Womens
3 University of Birmingham [Birmingham]
4 St Mary's

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 males was 7.1% (standard error 5.2-8.6%) by age 70 years and 8.4% (standard error 6.2-10.6%) by age 80 years.

Mots clés: Molecular genetics; Cancer: breast; Genetic epidemiology

D Gareth Evans, Insiya Susnerwala, John Dawson, Emma Woodward, Eamonn R Maher, et al.. Risk of breast cancer in male BRCA2 carriers. Journal of Medical Genetics, 2010, 47 (10), pp.710. ⟨10.1136/jmg.2009.075176⟩. ⟨hal-00557385⟩