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

Kurian AW

doi:10.1097/gco.0b013e328332dca3

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

Kurian AW ¹

Affiliations

1. Department of Medicine and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California 94305-5405, USA.
Authors
Kurian AW¹
(1 author)

ORCIDs linked to this article

Kurian AW | 0000-0002-6175-9470

Current Opinion in Obstetrics & Gynecology, 01 Feb 2010, 22(1):72-78
https://doi.org/10.1097/gco.0b013e328332dca3 PMID: 19841585

Review

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.

Full text links

Read article at publisher's site: https://doi.org/10.1097/gco.0b013e328332dca3

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http://content.wkhealth.com/linkback/openurl?issn=1040-872X&volume=22&issue=1&spage=72

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Search life-sciences literature (44,148,280 articles, preprints and more)

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

Affiliations

Authors

ORCIDs linked to this article

Abstract

Purpose of review

Recent findings

Summary

Full text links

References

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13.

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.

Meta-analysis of BRCA1 and BRCA2 penetrance.

Variation of breast cancer risk among BRCA1/2 carriers.

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population.

Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920-2000.

Keeping pace with the times--the Genetic Information Nondiscrimination Act of 2008.

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium.

Citations & impact

Impact metrics

Citations of article over time

Alternative metrics

Article citations

Germline Pathogenic Variants and Genetic Counseling by Ancestry in Patients With Epithelial Ovarian Cancer.

Short-term Impact of Hormone Replacement Therapy on Risk of Breast Cancer in BRCA Mutation Carriers: A Nationwide Study in South Korea.

Precision medicine and the problem of structural injustice.

Hereditary cancer syndromes.

Inherited mutations in Chinese patients with upper tract urothelial carcinoma.

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Search life-sciences literature (44,148,280 articles, preprints and more)

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

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Affiliations

Authors

ORCIDs linked to this article

Abstract

Purpose of review

Recent findings

Summary

Full text links

References

Citations & impact

Impact metrics

Citations of article over time

Alternative metrics

Article citations

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