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Article

Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.

Familial cancer - 1 Jan 2008

van Puijenbroek Marjo, Middeldorp Anneke, Tops Carli M J, van Eijk Ronald, van der Klift Heleen M, Vasen Hans F A, Wijnen Juul Th, Hes Frederik J, Oosting Jan, van Wezel Tom, Morreau Hans

Abstract excerpt

Mismatch repair deficiency in tumors can result from germ line mutations in one of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6 and PMS2), or from sporadic promoter hypermethylation of MLH1. The role of unclassified variants (UVs) in MMR genes is subject to debate. To establish the extend of chromosomal instability and copy neutral loss of heterozygosity (cnLOH), we analyzed 41 archival microsatellite...

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Source

Identifiers

PMID: 18415027
DOI: 10.1007/s10689-008-9194-8

Genes

MLH1
MSH2
PMS2
MSH6

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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