Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene

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• 作者：A. Tavera-Tapia ; L. Pérez-Cabornero ; J. A. Macías…
• 关键词：ATM ; Germline pathogenic variant ; Hereditary breast and ovarian cancer ; Whole exome sequencing
• 刊名：Breast Cancer Research and Treatment
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：161
• 期：3
• 页码：597-604
• 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

PurposeThere is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility.