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Curr Opin Obstet Gynecol. 2010 Feb;22(1):72-8. doi: 10.1097/GCO.0b013e328332dca3.

BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications.

Author information

1
Department of Medicine and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California 94305-5405, USA. akurian@stanford.edu

Abstract

PURPOSE OF REVIEW:

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.

RECENT FINDINGS:

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.

SUMMARY:

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.

PMID:
19841585
DOI:
10.1097/GCO.0b013e328332dca3
[Indexed for MEDLINE]

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