Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing.
作者： LI Dong , Nan Wu , Shaojing Wang , Yanan Cheng , Lei Han
DOI: 10.1002/HUMU.23597
关键词: Amplicon 、 Germline mutation 、 Family history 、 PMS2 、 Internal medicine 、 Biology 、 Breast cancer 、 CHEK2 、 Cancer 、 Oncology 、 PALB2
摘要: In this study, a customized amplicon-based target sequencing panel was designed to enrich the whole exon regions of six genes associated with risk breast cancer. Targeted next-generation (NGS) performed for 146 cancer patients (BC), 71 healthy women family history (high risk), and 55 without (control). Sixteen possible disease-causing mutations on four were identified in 20 samples. The percentages mutation carriers BC group (8.9%) high-risk (8.5%) higher than that control (1.8%). BRCA1 had prevalence triple-negative cancer, while BRCA2 younger more likely develop axillary lymph node metastasis (P < 0.05). Among patients, 47 also sequenced another 14 moderate-risk genes. Three additional found PALB2, CHEK2, PMS2 genes, respectively. results demonstrate six-gene targeted NGS may provide an approach assess genetic predict clinical prognosis patients.
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