Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

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• 作者：Yosr Hamdi ; Penny Soucy ; Karoline B. Kuchenbaeker&#8230
• 关键词：Breast cancer ; Genetic modifiers ; Differential allelic expression ; Genetic susceptibility ; Cis ; regulatory variants ; BRCA1 and BRCA2 mutation carriers
• 刊名：Breast Cancer Research and Treatment
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：161
• 期：1
• 页码：117-134
• 全文大小：1173KB
• 刊物类别：Medicine
• 刊物主题：Oncology;
• 出版者：Springer US
• ISSN：1573-7217
• 卷排序：161

文摘

PurposeCis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.