BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications.
OBJECTIVE
To summarize evidence on the prevalence and spectrum of BRCA1 and BRCA2 BRCA1/2 mutations across racial and ethnic groups and discuss implications for clinical practice.


RESULTS
The prevalence of BRCA1/2 mutations is comparable among breast cancer patients of African, Asian, white, and Hispanic descent: approximately 1-4% per gene. Among ovarian cancer patients in North America, BRCA1/2 mutations are present in 13-15%. Between racial/ethnic groups, there are important differences in the spectrum of BRCA1 compared with BRCA2 mutations, in BRCA1/2 variants of uncertain significance, and in the accuracy of clinical models that predict BRCA1/2 mutation carriage.


CONCLUSIONS
Given the significant prevalence of BRCA1/2 mutations across race/ethnicity, there is a need to expand and customize genetic counseling, genetic testing, and follow-up care for members of all racial/ethnic groups.
Department of Medicine and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California 94305-5405, USA. akurian@stanford.edu
Allison W
AW
Kurian
D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease / Q000208:ethnology*; D006801:Humans; D008297:Male; D009154:Mutation; D010051:Ovarian Neoplasms / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D015995:Prevalence; D044469:Racial Groups