Contribution of BRCA1 large genomic rearrangements to early-onset and familial breast/ovarian cancer in Pakistan

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• 作者：Muhammad U. Rashid ; Noor Muhammad ; Asim Amin…
• 关键词：Large genomic rearrangement ; BRCA1 ; BRCA2 ; Germline mutations ; Breast and/or ovarian cancer ; Pakistan
• 刊名：Breast Cancer Research and Treatment
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：161
• 期：2
• 页码：191-201
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Oncology;
• 出版者：Springer US
• ISSN：1573-7217
• 卷排序：161

文摘

BackgroundGermline mutations in BRCA1 and BRCA2 (BRCA1/2) account for the majority of hereditary breast and/or ovarian cancers. Pakistan has one of the highest rates of breast cancer incidence in Asia, where BRCA1/2 small-range mutations account for 17% of early-onset and familial breast/ovarian cancer patients. We report the first study from Pakistan evaluating the prevalence of BRCA1/2 large genomic rearrangements (LGRs) in breast and/or ovarian cancer patients who do not harbor small-range BRCA1/2 mutations.