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Article

An American founder mutation in MLH1.

International journal of cancer - 1 May 2012

Tomsic Jerneja, Liyanarachchi Sandya, Hampel Heather, Morak Monika, Thomas Brittany C, Raymond Victoria M, Chittenden Anu, Schackert Hans K, Gruber Stephen B, Syngal Sapna, Viel Alessandra, Holinski-Feder Elke, Thibodeau Stephen N, de la Chapelle Albert

Abstract excerpt

Mutations in the mismatch repair genes cause Lynch syndrome (LS), conferring high risk of colorectal, endometrial and some other cancers. After the same splice site mutation in the MLH1 gene (c.589-2A>G) had been observed in four ostensibly unrelated American families with typical LS cancers, its occurrence in comprehensive series of LS cases (Mayo Clinic, Germany and Italy) was determined. It occurred in 10 out...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21671475
DOI: 10.1002/ijc.26233
PMCID: PMC3266960

Genes

MLH1

Variants

Provenance

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