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Article

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

Journal of medical genetics - 1 Aug 2013

Borràs Ester, Pineda Marta, Cadiñanos Juan, Del Valle Jesús, Brieger Angela, Hinrichsen Inga, Cabanillas Ruben, Navarro Matilde, Brunet Joan, Sanjuan Xavier, Musulen Eva, van der Klift Helen, Lázaro Conxi, Plotz Guido, Blanco Ignacio, Capellá Gabriel

Abstract excerpt

BACKGROUND AND AIM: The majority of mismatch repair (MMR) gene mutations causing Lynch syndrome (LS) occur either in MLH1 or MSH2. However, the relative contribution of PMS2 is less well defined. The aim of this study was to evaluate the role of PMS2 in LS by assessing the pathogenicity of variants of unknown significance (VUS) detected in the mutational analysis of PMS2 in a series of Spanish patients. METHODS:...

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23709753
DOI: 10.1136/jmedgenet-2012-101511

Genes

PMS2
MLH1
MSH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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