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Comparative Study
. 2006 Feb;43(2):133-7.
doi: 10.1136/jmg.2005.034744. Epub 2005 Jun 27.

Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women

B G Haffty  1 , A Silber, E Matloff, J Chung, D Lannin
Affiliations
Comparative Study

Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women

B G Haffty et al. J Med Genet. 2006 Feb.

Abstract

Purpose: To evaluate the frequency and distribution of BRCA1 and BRCA2 mutations in a cohort of young women with breast cancer and to compare the distribution of mutations as a function of race.

Methods: After IRB approved informed consent, 170 white women and 30 African American women with known breast cancer diagnosed at a young age (45 years or less) underwent complete sequencing of the BRCA1 and BRCA2 genes. Each cohort represented approximately 40% of women of the same ethnic background aged 45 years or younger in a breast cancer database.

Results: Of the 200 patients tested, 131 (65%) had wild type mutations, 34 (17%) had deleterious mutations, and 35 (18%) had variants of uncertain significance. There were no significant differences between the white and African American cohorts regarding the percentage of deleterious mutations (17% v 17%). However, most African American patients had mutations in BRCA2 (4/5, 80%), while most mutations in the white cohort were in BRCA1 (20/29, 69%). In addition, 46% of the African American women had variants of uncertain significance, compared to only 12% of the white cohort.

Conclusions: Young African American women with breast cancer have a similar frequency of deleterious mutations as white women, but have a significantly higher frequency of variants of uncertain significance. Review of these variants revealed that the majority were unlikely to be associated with disease risk or were likely to be polymorphisms. The implications for genetic testing and counselling in young women with breast cancer are discussed.

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Conflict of interest statement

Competing interests: none declared

References

    1. Greenlee R T, Murray T, Bolden S, Wingo P A. Cancer statistics, 2000. CA Cancer J Clin 2000507–33. - PubMed
    1. Armes J E, Trute L, White D, Southey M C, Hammet F, Tesoriero A, Hutchins A M, Dite G S, McCredie M R, Giles G G, Hopper J L, Venter D J. Distinct molecular pathogeneses of early‐onset breast cancers in BRCA1 and BRCA2 mutation carriers: a population‐based study. Cancer Res 1999592011–2017. - PubMed
    1. Ansquer Y, Gautier C, Fourquet A, Asselain B, Stoppa‐Lyonnet D. Survival in early‐onset BRCA1 breast‐cancer patients. Institut Curie Breast Cancer Group. Lancet 1998352541 - PubMed
    1. de la Rochefordiere A, Asselain B, Campana F, Scholl S M, Fenton J, Vilcoq J R, Durand J C, Pouillart P, Magdelenat H, Fourquet A. Age as prognostic factor in premenopausal breast carcinoma. Lancet 19933411039–1043. - PubMed
    1. Fowble B L, Schultz D J, Overmoyer B, Solin L J, Fox K, Jardines L, Orel S, Glick J H. The influence of young age on outcome in early stage breast cancer. Int J Radiat Oncol Biol Phys 19943023–33. - PubMed

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