Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome.

@article{Ou2009BiochemicalCO,
  title={Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome.},
  author={Jianghua Ou and Merete Rasmussen and Helga Westers and Sofie Dabros Andersen and Paul O J Jager and Krista A. Kooi and Ren{\'e}e C. Niessen and Bart J. L. Eggen and Finn Cilius Nielsen and Jan H. Kleibeuker and Rolf Sijmons and Lene Juel Rasmussen and Robert M. W. Hofstra},
  journal={Genes, chromosomes & cancer},
  year={2009},
  volume={48 4},
  pages={340-50}
}
So far 18 MLH3 germline mutations/variants have been identified in familial colorectal cancer cases. Sixteen of these variants are amino acid substitutions of which the pathogenic nature is still unclear. These substitutions are known as unclassified variants or UVs. To clarify a possible role for eight of these MLH3 UVs identified in suspected Lynch syndrome patients, we performed several biochemical tests. We determined the protein expression and stability, protein localization and… CONTINUE READING

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