2. Academic Validation
  3. A role for MLH3 in hereditary nonpolyposis colorectal cancer

A role for MLH3 in hereditary nonpolyposis colorectal cancer

  • Nat Genet. 2001 Oct;29(2):137-8. doi: 10.1038/ng1001-137.
Y Wu 1,  M J Berends,  R H Sijmons,  R G Mensink,  E Verlind,  K A Kooi,  T van der Sluis,  C Kempinga,  A G van dDer Zee,  H Hollema,  C H Buys,  J H Kleibeuker,  R M Hofstra
Affiliations

Affiliation

  • 1 Department of Medical Genetics, University of Groningen, Groningen, The Netherlands.
PMID: 11586295 DOI: 10.1038/ng1001-137
Abstract

We investigated a possible role of the mismatch-repair gene MLH3 in hereditary nonpolyposis colorectal Cancer by scanning for mutations in 39 HNPCC families and in 288 patients suspected of having HNPCC. We identified ten different germline MLH3 variants, one frameshift and nine missense mutations, in 12 patients suspected of HNPCC. Three of the 12 also carried a mutation in MSH6.

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