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Article

Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

PloS one - 1 Jan 2014

Liu Yanqun, Chew Min Hoe, Goh Xue Wei, Tan Soo Yong, Loi Carol Tien Tau, Tan Yuen Ming, Law Hai Yang, Koh Poh Koon, Tang Choong Leong

Abstract excerpt

BACKGROUND: Germline defects of mismatch repair (MMR) genes underlie Lynch Syndrome (LS). We aimed to gain comprehensive genetic and epigenetic profiles of LS families in Singapore, which will facilitate efficient molecular diagnosis of LS in Singapore and the region. METHODS: Fifty nine unrelated families were studied. Mutations in exons, splice-site junctions and promoters of five MMR genes were scanned by high...

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Source

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Identifiers

PMID: 24710284
DOI: 10.1371/journal.pone.0094170
PMCID: PMC3978005

Genes

MLH1
MSH2
MSH6
PMS2

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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