An Interstitial Deletion at 3p21.3 Results in the Genetic Fusion of MLH1 and ITGA9 in a Lynch Syndrome Family

@article{Meyer2009AnID,
  title={An Interstitial Deletion at 3p21.3 Results in the Genetic Fusion of MLH1 and ITGA9 in a Lynch Syndrome Family},
  author={C. Meyer and A. Brieger and G. Plotz and N. Weber and S. Passmann and T. Dingermann and S. Zeuzem and J. Trojan and R. Marschalek},
  journal={Clinical Cancer Research},
  year={2009},
  volume={15},
  pages={762 - 769}
}
Purpose: Germline mutations in DNA mismatch repair genes, mainly MLH1 or MSH2, have been shown to predispose with high penetrance for the development of the clinical phenotype of hereditary nonpolyposis colorectal cancer (Lynch syndrome). Here, we describe the discovery and first functional characterization of a novel germline MLH1 mutant allele. Experimental Design: A large kindred including 54 potential carriers was investigated at the molecular level by using different types of PCR… Expand
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