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Article

Integrated analysis of unclassified variants in mismatch repair genes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2011

Pastrello Chiara, Pin Elisa, Marroni Fabio, Bedin Chiara, Fornasarig Mara, Tibiletti Maria Grazia, Oliani Cristina, Ponz de Leon Maurizio, Urso Emanuele Damiano, Della Puppa Lara, Agostini Marco, Viel Alessandra

Abstract excerpt

PURPOSE: Lynch syndrome is a genetic disease that predisposes to colorectal tumors, caused by mutation in mismatch repair genes. The use of genetic tests to identify mutation carriers does not always give perfectly clear results, as happens when an unclassified variant is found. This study aimed...

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Topics

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mismatch Repair

Share to DNA Repair Enzymes

Share to Microsatellite Instability

Share to Mismatch Repair Endonuclease PMS2

Share to MutL Protein Homolog 1

Share to MutS Homolog 2 Protein

Source

Identifiers

PMID: 21239990
DOI: 10.1097/GIM.0b013e3182011489

Genes

MSH2
PMS2
MLH1
MSH6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21239990-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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