Stout Leigh Anne, Hunter Cynthia, Schroeder Courtney, Kassem Nawal, Schneider Bryan P
Indiana University School of Medicine, Indianapolis, IN, USA.
Indiana University Health Precision Genomics, Indianapolis, IN, USA.
NPJ Genom Med. 2023 Oct 13;8(1):30. doi: 10.1038/s41525-023-00374-9.
A germline pathogenic variant may be present even if the results of tumor genomic sequencing do not suggest one. There are key differences in the assay design and reporting of variants between germline and somatic laboratories. When appropriate, both tests should be completed to aid in therapy decisions and determining optimal screening and risk-reduction interventions.
即使肿瘤基因组测序结果未提示存在种系致病变异，其仍可能存在。种系实验室和体细胞实验室在变异检测设计和报告方面存在关键差异。在适当情况下，应同时完成这两项检测，以辅助治疗决策并确定最佳筛查和降低风险干预措施。
