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Article

Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.

ESMO open - 1 Dec 2022

Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L

Abstract excerpt

BACKGROUND: Despite increasing use of next-generation sequencing (NGS), data concerning the gain in germline pathogenic variants (PVs) remain scanty, especially with respect to uncanonical ones. We aimed to verify the impact of different cancer predisposition genes (CPGs) on colorectal cancer (CRC) in patients referred for genetic evaluation. MATERIALS AND METHODS: We enrolled for NGS, by Illumina TruSight Cancer...

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Identifiers

PMID: 36356413
DOI: 10.1016/j.esmoop.2022.100607
PMCID: PMC9808471

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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