Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel

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• 作者：Olivia Moran ; Dina Nikitina ; Robert Royer…
• 关键词：Family history ; Breast cancer ; BRCA1 ; BRCA2 ; Susceptibility genes ; Genetic testing
• 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：135-142
• 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

PurposeBRCA mutations contribute to about 20% of all hereditary breast cancers. With full-genome sequencing as the emerging standard for genetic testing, other breast cancer susceptibility genes have been identified and may collectively contribute to up to 30% of all hereditary breast cancers. We re-assessed women who had previously tested negative for a BRCA mutation when outdated techniques were used, and discuss the implications of identifying a mutation several years after initial genetic testing.