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
作者： B G Haffty
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摘要: Purpose: To evaluate the frequency and distribution of BRCA1 BRCA2 mutations in a cohort young women with breast cancer to compare as function race. Methods: After IRB approved informed consent, 170 white 30 African American known diagnosed at age (45 years or less) underwent complete sequencing genes. Each represented approximately 40% same ethnic background aged 45 younger database. Results: Of 200 patients tested, 131 (65%) had wild type mutations, 34 (17%) deleterious 35 (18%) variants uncertain significance. There were no significant differences between cohorts regarding percentage (17% v 17%). However, most (4/5, 80%), while (20/29, 69%). In addition, 46% significance, compared only 12% cohort. Conclusions: Young have similar women, but significantly higher Review these revealed that majority unlikely be associated disease risk likely polymorphisms. The implications for genetic testing counselling are discussed.
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