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Article

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.

Gastroenterology - 1 Sept 2014

Nieminen Taina T, O'Donohue Marie-Françoise, Wu Yunpeng, Lohi Hannes, Scherer Stephen W, Paterson Andrew D, Ellonen Pekka, Abdel-Rahman Wael M, Valo Satu, Mecklin Jukka-Pekka, Järvinen Heikki J, Gleizes Pierre-Emmanuel, Peltomäki Päivi

Abstract excerpt

Little is known about the genetic factors that contribute to familial colorectal cancer type X (FCCX), characterized by hereditary nonpolyposis colorectal carcinoma with no mismatch repair defects. Genetic linkage analysis, exome sequencing, tumor studies, and functional investigations of 4 generations of a FCCX family led to the identification of a truncating germline mutation in RPS20, which encodes a component...

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis
Share to DNA Mismatch Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Linkage

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Source

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Identifiers

PMID: 24941021
DOI: 10.1053/j.gastro.2014.06.009
PMCID: PMC4155505

Genes

RPS20

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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