Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer

E DeBortoli; E McGahan; T Yanes; J Berkman; LG Aoude; AK Smit; A Gokoolparsadh; A Hermes; L Newett; M Bourke; S Hanson; H Hughes; O Hofmann; I Goranitis; R McWhirter; V Milch; J Steinberg; A McInerney-Leo

Journal article

Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer

E DeBortoli, E McGahan, T Yanes, J Berkman, LG Aoude, AK Smit, A Gokoolparsadh, A Hermes, L Newett, M Bourke, S Hanson, H Hughes, O Hofmann, I Goranitis, R McWhirter, V Milch, J Steinberg, A McInerney-Leo

Cancer Medicine | Published : 2025

DOI: 10.1002/cam4.71080

Abstract

Background and Aim: Historical genetic sequencing of specific cancer variants has been superseded by comprehensive genomic profiling (CGP). This narrative review aimed to capture current international evidence on the clinical utility of CGP for cancer prevention, detection and treatment. Materials and Methods: A literature search of three databases was performed to identify key studies on the frequency of germline and somatic variants in adult cancers and the extent to which they inform diagnosis, management and outcome. Findings were inductively mapped and narratively synthesised. Results: Consolidated results from 95 original research papers showed that pathogenic germline (familial) varia..

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