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Article

Splice site mutations in mismatch repair genes and risk of cancer in the general population.

Familial cancer - 1 Sept 2013

Thomsen Mette, Nordestgaard Børge G, Tybjærg-Hansen Anne, Bojesen Stig E

Abstract excerpt

We tested the hypothesis that splice site variations in MSH2 and MLH1 are associated with increased risk of hereditary non-polyposis colorectal cancer (HNPCC) and of cancer in general in the general population. In a cohort of 154 HNPCC patients with sequenced MSH2 and MLH1, we identified four possible splice-site mutations, which we subsequently genotyped in more than 9,000 individuals from the general...

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Identifiers

PMID: 23329266
DOI: 10.1007/s10689-013-9601-7

Genes

MLH1
MSH2

Provenance

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