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Article

Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.

International journal of cancer - 15 Sept 2025

Domínguez-Rovira Xavier, Arnau-Collell Coral, Gonfaus-Ortiz Gemma, Llargués-Sistac Gemma, Muñoz Jenifer, Llopis Ainara, Soares de Lima Yasmin, Herrera-Pariente Cristina, Moreira Leticia, Ocaña Teresa, Díaz-Gay Marcos, Cuatrecasas Miriam, Carballal Sabela, López-Novo Anael, Fernàndez Guerau, Castells Antoni, Bujanda Luis, Capellà Gabriel, Cubiella Joaquín, Rodríguez-Alcalde Daniel, Valle Laura, Balaguer Francesc, Ruiz-Ponte Clara, Bonjoch Laia, Castellví-Bel Sergi

Abstract excerpt

Serrated polyposis syndrome (SPS) is characterized by multiple and/or large serrated polyps and increased colorectal cancer (CRC) risk. Germline predisposition to SPS is mostly undetermined. We aimed to identify a new inherited SPS predisposition component by functionally evaluating a candidate gene replicated in two independent SPS cohorts. Exome sequencing was performed in a discovery cohort of 39 patients from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40444741
DOI: 10.1002/ijc.35492
PMCID: PMC12280854

Genes

HIC1
SIRT1
H2AX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.PMID 40444741Read ↗

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis SyndromeSemantic proximity Read ↗

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