Germline and somatic mutation profile in Cancer patients revealed by a medium-sized pan-Cancer panel
| Autor: | Zhaopei Li, Yuanhua Tang, Dujuan Liu, Hailong Wang, Zhen Zhang, Xiangwen Meng |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0106 biological sciences
Somatic cell Biology Gene mutation 01 natural sciences Deep sequencing Germline 03 medical and health sciences Exon Germline mutation Neoplasms Genetics medicine Humans Gene Germ-Line Mutation 030304 developmental biology 0303 health sciences Paraffin Embedding High-Throughput Nucleotide Sequencing Cancer medicine.disease Germ Cells Mutation Cancer research 010606 plant biology & botany |
| Zdroj: | Genomics. 113:1930-1939 |
| ISSN: | 0888-7543 |
| DOI: | 10.1016/j.ygeno.2021.04.029 |
| Popis: | Gene mutation detection and the resulted precision-medicine therapy is transforming clinical practice. Here, we report the use of a custom-developed, medium-sized, pan-cancer probe panel for the detection of somatic and germline mutations. We used a hybridization capture-based NGS assay for targeted deep sequencing of all exons and selected introns of 181 key cancer driver genes, covering both inherited risks and somatic mutations. We performed paired-variant calling on tumor samples and their matched normal samples. We processed clinical patient samples of formalin-fixed, paraffin embedded tumors (FFPE samples) and cell-free peripheral blood (cfDNA samples). We found germline mutations of inherited cancer risk at 9%; and discovered a novel germline mutation in BRCA1. Somatic mutation rate in driver genes is at 73.1%, much higher than previously reported. On recommending precision-medicine therapeutics, we achieved 91.6% for patients with FFPE samples. |
| Databáze: | OpenAIRE |
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