@article{99d2a9d14f54438882dc2214b7460cc3,
title = "The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer",
abstract = "We have identified a human homolog of the bacterial MutS and S. cerevisiae MSH proteins, called hMSH2. Expression of hMSH2 in E. coli causes a dominant mutator phenotype, suggesting that hMSH2, like other divergent MutS homologs, interferes with the normal bacterial mismatch repair pathway. hMSH2 maps to human chromosome 2p22-21 near a locus implicated in hereditary nonpolyposis colon cancer (HNPCC). A T to C transition mutation has been detected in the -6 position of a splice acceptor site in sporadic colon tumors and in affected individuals of two small HNPCC kindreds. These data and reports indicating that S. cerevisiae msh2 mutations cause an instability of dinucleotide repeats like those associated with HNPCC suggest that hMSH2 is the HNPCC gene.",
author = "Richard Fishel and Lescoe, {Mary Kay} and Rao, {M. R S} and Copeland, {Neal G.} and Jenkins, {Nancy A.} and Judy Garber and Michael Kane and Richard Kolodner",
note = "Funding Information: M. R. S. Ft. is on sabbatical leave from the Indian Institute of Science, Bangalore, India. We thank Lorena Kallal, Tim Bishop, Eric Alani, Nai-Wen Chi, Sarah Selig, Louis Kunkel, John Seidman, Eric Lander, Charles Stiles, Gerald Rubin. Fred Li, David Livingston, Greg Gilmar-tin, and Myles Brown for technical advice, helpful discussions, and criticism. Debbie Gilbert and Brian Cho provided excellent technical assistance in the mouse mapping experiments. Sean Flaherty performed some initial PCR experiments, and Shawn Guerrette helped in the development of the mutator assay. Paul Morrison, Christine Earabino, and Lori Wirth of the Dana-Farber Cancer Institute Molecular Biology Facility performed all DNA sequence analysis. We are particularly grateful to Fred Li, Chris Larkin, Sigatas Verselis, Michael Bennet, J. M. Jessup, and Glenn Steele, Jr., for their gifts of DNA samples from HNPCC kindreds and sporadic colorectal tumors and for help with pedigree analysis. This research was supported by grants CA56542 (to A. F.), HG00305 (now numbered GM50006) (to Ft. K.), and Cancer Center Core Grant CA06516 (to the Dana-Farber Cancer Institute) from the National Institutes of Health, by an American Cancer Society International cancer research fellowship from the International Union against Cancer (to M. R. S. R.), and by the National Cancer Institute (Department of Health and Human Services) under contract NOl-CO-74101 with Advanced Bioscience Laboratories (to N. G. C. and N. A. J.).",
year = "1993",
month = dec,
day = "3",
doi = "10.1016/0092-8674(93)90546-3",
language = "English (US)",
volume = "75",
pages = "1027--1038",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "5",
}