Assessment of an APOBEC3B truncating mutation, c.783delG, in patients with breast cancer

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• 作者：Hoda Radmanesh ; Tessa Spethmann ; Julia Enßen…
• 关键词：Breast carcinoma ; Genetic susceptibility ; DNA editing ; Founder mutation
• 刊名：Breast Cancer Research and Treatment
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：162
• 期：1
• 页码：31-37
• 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：162

文摘

PurposeAPOBEC3B belongs to the family of DNA-editing enzymes. A copy number variant targeting the genomic APOBEC3A-APOBEC3B locus has a significant impact on breast cancer risk, but the relative contribution of APOBEC3B is uncertain. In this study, we investigate a loss-of-function mutation that selectively targets APOBEC3B, for its association with breast cancer risk.