專題討論15:次世代基因分析對疾病治療的衝擊

S15-1
Application of NGS in Cancer Genomics
林鵬展
成大醫院內科部血液腫瘤科

Aims: Use of both cancer patients and healthy population whole-genome sequencing to identified germline genetic susceptibility risk of cancer patients by knowledge-based genomics mutation database to provide more genetics more attractive comprehensive gemrline genetic risk including inherited cancer predisposing genes, genetic drug efficacy and adverse drug reaction predictions, American College of Medical Genetics and Genomics (ACMG)-reportable non cancer genes for cancer care improvement.
Materials and methods: Total 159 cancer patients and 499 Taiwan Biobank healthy population germline whole genome sequence and clinical information and family cancer history were analysis. The germline genomic DNA was sequenced by Illumina Hiseq 2500. Single nucleotide polymorphisms, small indel, copy-number variations were identified. Database from National Center for Biotechnology Information (NCBI)-ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) was used for interpretation of relationships among medically important variants and phenotypes.
Results: 52% patients have cancer family history. Total 26 patients (16.3%) have heritable genes. However, there are only 16 patients have heritable cancer associated gene. The most heritable genes are DNA repair genes including FANCA, BRCA1, BRCA2, ATM, BAP1, MUTYH. The most common drug response genes are associated with Platinum compounds, Irinotecan. The ACMG Incidental findings rate is 8.8 %.
Conclusions: Our study indicated that both cancer patients and healthy population whole genome sequence information may provide more information for precision medicine.