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Article

Integration of multi-omics data uncovers novel germline susceptibility candidates in early-onset colorectal cancer.

European journal of human genetics : EJHG - 1 Sept 2026

López-Novo Anael, Amigo Jorge, Dacal Andrés, Remedios-Espino David, Cubiella Joaquín, Álvarez-Sánchez María Victoria, Ladra-González María Jesús, Fernández-López Fernando, Álvarez-Castro Ana, Carlés Silvia, Cameselle-Teijeiro José Manuel, Cuatrecasas Miriam, Balaguer Francesc, Castellví-Bel Sergi, Fernández-Rozadilla Ceres, Carracedo Ángel, Ruiz-Ponte Clara

Abstract excerpt

Colorectal cancer (CRC) is increasingly diagnosed in individuals under 50 years of age, yet the underlying genetic predisposition remains largely unexplained, particularly in mismatch repair (MMR)-proficient cases. This study aimed to identify novel hereditary CRC susceptibility genes by integrating germline and tumour whole-exome sequencing (WES) with transcriptomic profiling across a cohort of early-onset CRC...

Read the complete abstract on PubMed

Topics

Humans
Germ-Line Mutation
Colorectal Neoplasms
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Multiomics

Exome Sequencing

Age of Onset

Female

Male

Adult

Middle Aged

Source

Open in PubMed Open full text

Identifiers

PMID: 41540143
DOI: 10.1038/s41431-025-02004-7
PMCID: PMC13550470

Genes

ADCY4
ARHGAP10
CDHR2
EEF2K
NOXO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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