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A role for MLH3 in hereditary nonpolyposis colorectal cancer

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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Figure 1: Mutation analysis of the MLH3 gene.

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Acknowledgements

We thank T.K. Sixma for alignments of the human and yeast MLH3 proteins and for mutation mapping on the E. coli MutL crystal structure. This work was supported by the Dutch Cancer Society (grant RUG 1997-1544).

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Correspondence to Robert M.W. Hofstra.

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Wu, Y., Berends, M., Sijmons, R. et al. A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet 29, 137–138 (2001). https://doi.org/10.1038/ng1001-137

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