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Article

Whole Exome Sequencing-identified Germline Variants Underlie High Familial Risk and Early-onset Colorectal Cancer in Taiwan.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association - 1 Mar 2026

Huang Yi-Chen, Chen Yen-Nien, Chung An-Ko, Chen Yu-An, Chen Pei-Lung, Shen Tang-Long, Chen Chien-Yu, Chiu Han-Mo

Abstract excerpt

BACKGROUND & AIMS: Germline genetic factors influence the clinical features of colorectal cancer (CRC); however, these factors remain underexplored in Taiwan. This study aims to evaluate the pathogenicity of germline variants and investigate their associations with familial risk and early-onset CRC. METHODS: Whole exome sequencing of 600 Taiwanese patients with CRC was analyzed, assessing variant pathogenicity...

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Source

Identifiers

PMID: 40780402
DOI: 10.1016/j.cgh.2025.07.040

Genes

ATM
CCDC18
CEP135
MUTYH
POLD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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