Mutation of a mutL homolog in hereditary colon cancer

Nickolas Papadopoulos; Nicholas C. Nicolaides; Ying Fei Wei; Steven M. Ruben; Kenneth C. Carter; Craig A. Rosen; William A. Haseltine; Robert D. Fleischmann; Claire M. Fraser; Mark D. Adams; J. Craig Venter; Stanley R. Hamilton; Gloria M. Petersen; Patrice Watson; Henry T. Lynch; Päivi Peltomäki; Jukka Pekka Mecklin; Albert De La Chapelle; Kenneth W. Kinzler; Bert Vogelstein

doi:10.1126/science.8128251

Mutation of a mutL homolog in hereditary colon cancer

Nickolas Papadopoulos, Nicholas C. Nicolaides, Ying Fei Wei, Steven M. Ruben, Kenneth C. Carter, Craig A. Rosen, William A. Haseltine, Robert D. Fleischmann, Claire M. Fraser, Mark D. Adams, J. Craig Venter, Stanley R. Hamilton, Gloria M. Petersen, Patrice Watson, Henry T. Lynch, Päivi Peltomäki, Jukka Pekka Mecklin, Albert De La Chapelle, Kenneth W. Kinzler, Bert 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 language	English (US)
Pages (from-to)	1625-1629
Number of pages	5
Journal	Science
Volume	263
Issue number	5153
DOIs	https://doi.org/10.1126/science.8128251
State	Published - 1994

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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, H. T., Peltomäki, P., Mecklin, J. P., De La Chapelle, A., Kinzler, K. W., & Vogelstein, B. (1994). Mutation of a mutL homolog in hereditary colon cancer. Science, 263(5153), 1625-1629. https://doi.org/10.1126/science.8128251

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, Peltomäki, 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. https://doi.org/10.1126/science.8128251

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title = "Mutation of a mutL homolog in hereditary colon cancer",

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.",

author = "Nickolas Papadopoulos and Nicolaides, {Nicholas C.} and Wei, {Ying Fei} and Ruben, {Steven M.} and Carter, {Kenneth C.} and Rosen, {Craig A.} and Haseltine, {William A.} and Fleischmann, {Robert D.} and Fraser, {Claire M.} and Adams, {Mark D.} and Venter, {J. Craig} and Hamilton, {Stanley R.} and Petersen, {Gloria M.} and Patrice Watson and Lynch, {Henry T.} and P{\"a}ivi Peltom{\"a}ki and Mecklin, {Jukka Pekka} and {De La Chapelle}, Albert and Kinzler, {Kenneth W.} and Bert Vogelstein",

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doi = "10.1126/science.8128251",

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AU - Papadopoulos, Nickolas

AU - Nicolaides, Nicholas C.

AU - Wei, Ying Fei

AU - Ruben, Steven M.

AU - Carter, Kenneth C.

AU - Rosen, Craig A.

AU - Haseltine, William A.

AU - Fleischmann, Robert D.

AU - Fraser, Claire M.

AU - Adams, Mark D.

AU - Venter, J. Craig

AU - Hamilton, Stanley R.

AU - Petersen, Gloria M.

AU - Watson, Patrice

AU - Lynch, Henry T.

AU - Peltomäki, Päivi

AU - Mecklin, Jukka Pekka

AU - De La Chapelle, Albert

AU - Kinzler, Kenneth W.

AU - Vogelstein, Bert

PY - 1994

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AB - 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.

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Mutation of a mutL homolog in hereditary colon cancer

Abstract

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