کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2110181 1083913 2012 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
پیش نمایش صفحه اول مقاله
Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico
چکیده انگلیسی

Mutations in the breast cancer 1, early onset (BRCA1) and breast cancer 2 (BRCA2) genes are responsible for the majority of hereditary breast cancers. Knowledge of the incidence and prevalence of BRCA mutations in a specific population or ethnic group is necessary to provide accurate genetic counseling for breast cancer patients and their families; however, these data have not been gathered in the population of Puerto Rico. We conducted a retrospective study of female breast cancer patients undergoing genetic testing for BRCA mutations in the highest-volume breast surgery practices in San Juan, Puerto Rico. Data collection includes three-generation family cancer history and results from complete BRCA sequencing. A total of six different deleterious mutations were observed, including one mutation in BRCA1 and five mutations in BRCA2. Three recurrent mutations (BRCA1 del exon1-2, BRCA2 4150G>T, and BRCA2 6027del4) account for over 70% of all the BRCA mutations observed in this study population. This study examines for the first time the characteristics of hereditary breast cancer in Puerto Rico and assesses the accuracy of existing genetic risk assessment tools in that population. This data is expected to contribute to providing accurate and efficient tools for the clinical management of hereditary breast cancer in Puerto Rico.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Cancer Genetics - Volume 205, Issue 5, May 2012, Pages 242–248
نویسندگان
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