Clinically significant germline pathogenic variants are missed by tumor genomic sequencing

Leigh Anne Stout; Cynthia Hunter; Courtney Schroeder; Nawal Kassem; Bryan P Schneider

doi:10.1038/s41525-023-00374-9

Clinically significant germline pathogenic variants are missed by tumor genomic sequencing

NPJ Genom Med. 2023 Oct 13;8(1):30. doi: 10.1038/s41525-023-00374-9.

Authors

Leigh Anne Stout^{1

2}, Cynthia Hunter², Courtney Schroeder², Nawal Kassem^{1

2}, Bryan P Schneider^{3

4}

Affiliations

¹ Indiana University School of Medicine, Indianapolis, IN, USA.
² Indiana University Health Precision Genomics, Indianapolis, IN, USA.
³ Indiana University School of Medicine, Indianapolis, IN, USA. bpschnei@iu.edu.
⁴ Indiana University Health Precision Genomics, Indianapolis, IN, USA. bpschnei@iu.edu.

Abstract

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.