identification of brca12 founder mutations in southern chinese breast cancer patients using gene sequencing and high resolution dna melting analysis识别brca12创始者突变在中国南方乳腺癌患者使用基因测序和高分辨率的dna分析融化.pdfVIP

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identification of brca12 founder mutations in southern chinese breast cancer patients using gene sequencing and high resolution dna melting analysis识别brca12创始者突变在中国南方乳腺癌患者使用基因测序和高分辨率的dna分析融化.pdf

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identification of brca12 founder mutations in southern chinese breast cancer patients using gene sequencing and high resolution dna melting analysis识别brca12创始者突变在中国南方乳腺癌患者使用基因测序和高分辨率的dna分析融化

Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast Cancer Patients Using Gene Sequencing and High Resolution DNA Melting Analysis 1,2,3,4 1,2 2,3 2,3 2 Ava Kwong *, Enders Kai On Ng , Chris Lei Po Wong , Fian Bic Fai Law , Tommy Au , Hong 1 4 4 4 2,3 Nei Wong , Allison W. Kurian , Dee W. West , James M. Ford , Edmond Siu Kwan Ma 1 Department of Surgery, The University of Hong Kong, Hong Kong SAR, 2 Department of Molecular Pathology and Department of Surgery, Hong Kong Sanatorium and Hospital, Hong Kong SAR, 3 Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong SAR, 4 Departments of Medicine and Health Research and Policy, Stanford University School of Medicine, Stanford, California, United States of America Abstract Background: Ethnic variations in breast cancer epidemiology and genetics have necessitated investigation of the spectra of BRCA1 and BRCA2 mutations in different populations. Knowledge of BRCA mutations in Chinese populations is still largely unknown. We conducted a multi-center study to characterize the spectra of BRCA mutations in Chinese breast and ovarian cancer patients from Southern China. Methodology/Principal Findings: A total of 651 clinically high-risk breast and/or ovarian cancer patients were recruited from the Hong Kong Hereditary Breast Cancer Family Registry from 2007 to 2011. Comprehensive BRCA1 and BRCA2 mutation screening was performed using bi-directional sequencing of all coding exons of BRCA1 and BRCA2. Sequencing results were confirmed by in-house developed full high resolution DNA melting (HRM) analysis. Among