Clinically significant germline pathogenic variants are missed by tumor genomic sequencing.

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.

SUBMITTER: Stout LA 

PROVIDER: S-EPMC10575977 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature