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Article

[Founder mutation in Lynch syndrome].

Medicina - 1 Jan 2016

Cajal Andrea R, Piñero Tamara A, Verzura Alicia, Santino Juan Pablo, Solano Angela R, Kalfayan Pablo G, Ferro Alejandra, Vaccaro Carlos

Abstract excerpt

Lynch syndrome is the most frequent syndrome in hereditary colorectal cancer, a family-specific deleterious mutations in genes encoding DNA reparation proteins: MLH1 (mutL homolog 1), MSH2, MSH6 (mutS homolog 2 y 6, respectively), PMS2 (PMS1 homolog 2, mismatch repair system component) y MUTYH (mutY DNA glycosylase). The c.2252_2253delAA, p.Lys751Serfs*3 mutation in MLH1 gene segregates with a haplotype reported...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

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Source

Identifiers

PMID: 27295708

Genes

MLH1
PMS2
MSH2
MSH6
MUTYH
PMS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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