Germline mutations in WNK2 could be associated with serrated polyposis syndrome.

doi:10.1136/jmg-2022-108684

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Article

Germline mutations in WNK2 could be associated with serrated polyposis syndrome.

Journal of medical genetics - 1 Jun 2023

Soares de Lima Yasmin, Arnau-Collell Coral, Muñoz Jenifer, Herrera-Pariente Cristina, Moreira Leticia, Ocaña Teresa, Díaz-Gay Marcos, Franch-Expósito Sebastià, Cuatrecasas Miriam, Carballal Sabela, Lopez-Novo Anael, Moreno Lorena, Fernàndez Guerau, Díaz de Bustamante Aranzazu, Peters Sophia, Sommer Anna K, Spier Isabel, Te Paske Iris B A W, van Herwaarden Yasmijn J, Castells Antoni, Bujanda Luis, Capellà Gabriel, Steinke-Lange Verena, Mahmood Khalid, Joo JiHoon Eric, Arnold Julie, Parry Susan, Macrae Finlay A, Winship Ingrid M, Rosty Christophe, Cubiella Joaquin, Rodríguez-Alcalde Daniel, Holinski-Feder Elke, de Voer Richarda, Buchanan Daniel D, Aretz Stefan, Ruiz-Ponte Clara, Valle Laura, Balaguer Francesc, Bonjoch Laia, Castellvi-Bel Sergi

Abstract excerpt

BACKGROUND: Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors for SPS by functionally evaluating a candidate gene and replicating it in additional SPS cohorts. METHODS: After a previous whole-exome sequencing in 39 SPS...

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Identifiers

PMID: 36270769
DOI: 10.1136/jmg-2022-108684
PMCID: PMC10313964

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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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