Mutation of a mutL homolog in hereditary colon cancer

N. Papadopoulos, N. C. Nicolaides, Y. F. Wei, S. M. Ruben, K. C. Carter, C. A. Rosen, W. A. Haseltine, R. D. Fleischmann, C. M. Fraser, M. D. Adams, J. C. Venter, S. R. Hamilton, G. M. Petersen, P. Watson, Henry T. Lynch, P. Peltomaki, J. P. Mecklin, A. De la Chapelle, K. W. Kinzler, B. Vogelstein

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Abstract

Some cases of hereditary nonpolyposis colorectal cancer (HNPCC) are due to alterations in a mutS-related mismatch repair gene. A search of a large database of expressed sequence tags derived from random complementary DNA clones revealed three additional human mismatch repair genes, all related to the bacterial mutL gene. One of these genes (hMLH1) resides on chromosome 3p21, within 1 centimorgan of markers previously linked to cancer susceptibility in HNPCC kindreds. Mutations of hMLH1 that would disrupt the gene product were identified in such kindreds, demonstrating that this gene is responsible for the disease. These results suggest that defects in any of several mismatch repair genes can cause HNPCC.

Original languageEnglish
Pages (from-to)1625-1629
Number of pages5
JournalScience
Volume263
Issue number5153
StatePublished - Mar 18 1994

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Colonic Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Mutation
DNA Mismatch Repair
Genes
Bacterial Genes
Expressed Sequence Tags
MutL Proteins
Complementary DNA
Clone Cells
Chromosomes
Databases
Neoplasms

All Science Journal Classification (ASJC) codes

  • General

Cite this

Papadopoulos, N., Nicolaides, N. C., Wei, Y. F., Ruben, S. M., Carter, K. C., Rosen, C. A., ... Vogelstein, B. (1994). Mutation of a mutL homolog in hereditary colon cancer. Science, 263(5153), 1625-1629.

Mutation of a mutL homolog in hereditary colon cancer. / Papadopoulos, N.; Nicolaides, N. C.; Wei, Y. F.; Ruben, S. M.; Carter, K. C.; Rosen, C. A.; Haseltine, W. A.; Fleischmann, R. D.; Fraser, C. M.; Adams, M. D.; Venter, J. C.; Hamilton, S. R.; Petersen, G. M.; Watson, P.; Lynch, Henry T.; Peltomaki, P.; Mecklin, J. P.; De la Chapelle, A.; Kinzler, K. W.; Vogelstein, B.

In: Science, Vol. 263, No. 5153, 18.03.1994, p. 1625-1629.

Research output: Contribution to journalArticle

Papadopoulos, N, Nicolaides, NC, Wei, YF, Ruben, SM, Carter, KC, Rosen, CA, Haseltine, WA, Fleischmann, RD, Fraser, CM, Adams, MD, Venter, JC, Hamilton, SR, Petersen, GM, Watson, P, Lynch, HT, Peltomaki, P, Mecklin, JP, De la Chapelle, A, Kinzler, KW & Vogelstein, B 1994, 'Mutation of a mutL homolog in hereditary colon cancer', Science, vol. 263, no. 5153, pp. 1625-1629.
Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994 Mar 18;263(5153):1625-1629.
Papadopoulos, N. ; Nicolaides, N. C. ; Wei, Y. F. ; Ruben, S. M. ; Carter, K. C. ; Rosen, C. A. ; Haseltine, W. A. ; Fleischmann, R. D. ; Fraser, C. M. ; Adams, M. D. ; Venter, J. C. ; Hamilton, S. R. ; Petersen, G. M. ; Watson, P. ; Lynch, Henry T. ; Peltomaki, P. ; Mecklin, J. P. ; De la Chapelle, A. ; Kinzler, K. W. ; Vogelstein, B. / Mutation of a mutL homolog in hereditary colon cancer. In: Science. 1994 ; Vol. 263, No. 5153. pp. 1625-1629.
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AU - Nicolaides, N. C.

AU - Wei, Y. F.

AU - Ruben, S. M.

AU - Carter, K. C.

AU - Rosen, C. A.

AU - Haseltine, W. A.

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AU - Fraser, C. M.

AU - Adams, M. D.

AU - Venter, J. C.

AU - Hamilton, S. R.

AU - Petersen, G. M.

AU - Watson, P.

AU - Lynch, Henry T.

AU - Peltomaki, P.

AU - Mecklin, J. P.

AU - De la Chapelle, A.

AU - Kinzler, K. W.

AU - Vogelstein, B.

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