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Article

Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.

PloS one - 1 Jan 2013

Romero Atocha, Garre Pilar, Valentin Olivia, Sanz Julian, Pérez-Segura Pedro, Llovet Patricia, Díaz-Rubio Eduardo, de la Hoya Miguel, Caldés Trinidad

Abstract excerpt

Large genomic rearrangements (LGRs) in DNA-mismatch-repair (MMR) genes, particularly among MSH2 gene, are frequently involved in the etiology of Lynch syndrome (LS). The Multiplex Ligation and Probe Amplification assay (MLPA) is commonly used to identify such alterations. However, in most cases, the MLPA-identified alteration is not characterized at the molecular level, which might be important to identify...

Topics

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Chromosome Breakpoints
Colorectal Neoplasms, Hereditary Nonpolyposis
Comparative Genomic Hybridization
Gene Amplification
Gene Dosage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

MutS Homolog 2 Protein

Translocation, Genetic

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Open in PubMed Open full text

Identifiers

PMID: 24039744
DOI: 10.1371/journal.pone.0072195
PMCID: PMC3770653

Genes

MSH2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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