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Science 18 March 1994: Vol. 263. no. 5153, pp. 1625 - 1629 DOI: 10.1126/science.8128251
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Articles
Science, Vol 263, Issue 5153, 1625-1629
Copyright © 1994 by American Association for the Advancement of Science
Mutation of a mutL homolog in hereditary colon cancer
N Papadopoulos,
NC Nicolaides,
YF Wei,
SM Ruben,
KC Carter,
CA Rosen,
WA Haseltine,
RD Fleischmann,
CM Fraser,
MD Adams,
and
al. et
Johns Hopkins Oncology Center, Baltimore, MD 21231.
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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| Full Text »
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| Full Text »
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| Full Text »
| PDF »
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| Abstract »
| Full Text »
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| Abstract »
| Full Text »
| PDF »
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| Abstract »
| Full Text »
| PDF »
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| Abstract »
| Full Text »
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11, 6466-6471
| Abstract »
| Full Text »
| PDF »
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- I.-Y. Chang, S.-H. Kim, H.-J. Cho, D. Y. Lee, M.-H. Kim, M.-H. Chung, and H. J. You (2005)
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33, 5073-5081
| Abstract »
| Full Text »
| PDF »
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- J. El-Bchiri, O. Buhard, V. Penard-Lacronique, G. Thomas, R. Hamelin, and A. Duval (2005)
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14, 2435-2442
| Abstract »
| Full Text »
| PDF »
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- A. T. Stormorken, I. M. Bowitz-Lothe, T. Noren, E. Kure, S. Aase, J. Wijnen, J. Apold, K. Heimdal, and P. Moller (2005)
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23, 4705-4712
| Abstract »
| Full Text »
| PDF »
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- T. Hienonen, H. Sammalkorpi, S. Enholm, P. Alhopuro, T. D. Barber, R. Lehtonen, N. N. Nupponen, H. Lehtonen, R. Salovaara, J.-P. Mecklin, et al. (2005)
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65, 4607-4613
| Abstract »
| Full Text »
| PDF »
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- R P Coggins, L Cawkwell, S M Bell, G P Crockford, P Quirke, P J Finan, and D T Bishop (2005)
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54, 636-642
| Abstract »
| Full Text »
| PDF »
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7, 160-170
| Abstract »
| Full Text »
| PDF »
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- V. Pinol, A. Castells, M. Andreu, S. Castellvi-Bel, C. Alenda, X. Llor, R. M. Xicola, F. Rodriguez-Moranta, A. Paya, R. Jover, et al. (2005)
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293, 1986-1994
| Abstract »
| Full Text »
| PDF »
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- E. R. Gritz, S. K. Peterson, S. W. Vernon, S. K. Marani, W. F. Baile, B. G. Watts, C. I. Amos, M. L. Frazier, and P. M. Lynch (2005)
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23, 1902-1910
| Abstract »
| Full Text »
| PDF »
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- A. W. Adamson, D. I. Beardsley, W.-J. Kim, Y. Gao, R. Baskaran, and K. D. Brown (2005)
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16, 1513-1526
| Abstract »
| Full Text »
| PDF »
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- E. S. Hong, A. Yeung, P. Funchain, M. M. Slupska, and J. H. Miller (2005)
J. Bacteriol.
187, 840-846
| Abstract »
| Full Text »
| PDF »
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- A. R. Ellison, J. Lofing, and G. A. Bitter (2004)
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32, 5321-5338
| Abstract »
| Full Text »
| PDF »
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- S. E. Liberti and L. J. Rasmussen (2004)
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2, 427-432
| Full Text »
| PDF »
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- X. Lei, Y. Zhu, A. Tomkinson, and L. Sun (2004)
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32, e100
| Abstract »
| Full Text »
| PDF »
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- E Mangold, C Pagenstecher, M Leister, M Mathiak, A Rutten, W Friedl, P Propping, T Ruzicka, and R Kruse (2004)
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41, 567-572
| Full Text »
| PDF »
- Proteolysis of the Mismatch Repair Protein MLH1 by Caspase-3 Promotes DNA Damage-induced Apoptosis.
- F. Chen, O. K. Arseven, and V. L. Cryns (2004)
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279, 27542-27548
| Abstract »
| Full Text »
| PDF »
- Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption.
- P Lastella, N Resta, I Miccolis, A Quagliarella, G Guanti, and A Stella (2004)
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41, e72
| Full Text »
| PDF »
- Molecular Differences between Sporadic Serrated and Conventional Colorectal Adenomas.
- K. Konishi, T. Yamochi, R. Makino, K. Kaneko, T. Yamamoto, H. Nozawa, A. Katagiri, H. Ito, K. Nakayama, H. Ota, et al. (2004)
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10, 3082-3090
| Abstract »
| Full Text »
| PDF »
- Differential Requirement for Proliferating Cell Nuclear Antigen in 5' and 3' Nick-directed Excision in Human Mismatch Repair.
- S. Guo, S. R. Presnell, F. Yuan, Y. Zhang, L. Gu, and G.-M. Li (2004)
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279, 16912-16917
| Abstract »
| Full Text »
| PDF »
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- A. Duval, M. Raphael, C. Brennetot, H. Poirel, O. Buhard, A. Aubry, A. Martin, A. Krimi, V. Leblond, J. Gabarre, et al. (2004)
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101, 5002-5007
| Abstract »
| Full Text »
| PDF »
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- A. E. Gammie and N. Erdeniz (2004)
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3, 31-48
| Abstract »
| Full Text »
| PDF »
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- O Caluseriu, C Di Gregorio, E Lucci-Cordisco, M Santarosa, J Trojan, A Brieger, P Benatti, M Pedroni, T Colibazzi, A Bellacosa, et al. (2004)
J. Med. Genet.
41, e34-34
| Full Text »
| PDF »
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- N. Takemoto, F. Konishi, K. Yamashita, M. Kojima, T. Furukawa, Y. Miyakura, K. Shitoh, and H. Nagai (2004)
Jpn. J. Clin. Oncol.
34, 90-98
| Abstract »
| Full Text »
| PDF »
- MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation.
- Y. Wang and J. Qin (2003)
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100, 15387-15392
| Abstract »
| Full Text »
| PDF »
- Differential deletions of chromosome 3p are associated with the development of uterine cervical carcinoma in Indian patients.
- S Dasgupta, S B Chakraborty, A Roy, S Roychowdhury, and C K Panda (2003)
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56, 263-269
| Abstract »
| Full Text »
| PDF »
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- S. Enholm, T. Hienonen, A. Suomalainen, L. Lipton, I. Tomlinson, V. Karja, M. Eskelinen, J.-P. Mecklin, A. Karhu, H. J. Jarvinen, et al. (2003)
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163, 827-832
| Abstract »
| Full Text »
| PDF »
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- Y. Mori, F. M. Selaru, F. Sato, J. Yin, L. A. Simms, Y. Xu, A. Olaru, E. Deacu, S. Wang, J. M. Taylor, et al. (2003)
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| Abstract »
| Full Text »
| PDF »
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- L. J. Worrillow, L. B. Travis, A. G. Smith, S. Rollinson, A. J. Smith, C. P. Wild, E. J. Holowaty, B. A. Kohler, T. Wiklund, E. Pukkala, et al. (2003)
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| Abstract »
| Full Text »
| PDF »
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- C. M. Ribic, D. J. Sargent, M. J. Moore, S. N. Thibodeau, A. J. French, R. M. Goldberg, S. R. Hamilton, P. Laurent-Puig, R. Gryfe, L. E. Shepherd, et al. (2003)
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- X. Wu, J. L. Platt, and M. Cascalho (2003)
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| PDF »
- The Role of hMLH3 in Familial Colorectal Cancer.
- H.-X. Liu, X.-L. Zhou, T. Liu, B. Werelius, G. Lindmark, N. Dahl, and A. Lindblom (2003)
Cancer Res.
63, 1894-1899
| Abstract »
| Full Text »
| PDF »
- DNA Ploidy and Markovian Analysis of Neoplastic Progression in Experimental Pancreatic Cancer.
- R. G. Postier, M. R. Lerner, S. A. Lightfoot, R. Vannarath, M. M. Lane, J. S. Hanas, and D. J. Brackett (2003)
J. Histochem. Cytochem.
51, 303-309
| Abstract »
| Full Text »
| PDF »
- Identification of frame-shift intermediate mutant cells.
- C. Gasche, C. L. Chang, L. Natarajan, A. Goel, J. Rhees, D. J. Young, C. N. Arnold, and C. R. Boland (2003)
PNAS
100, 1914-1919
| Abstract »
| Full Text »
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- Microsatellite Instability and Suppressed DNA Repair Enzyme Expression in Rheumatoid Arthritis.
- S.-H. Lee, D. K. Chang, A. Goel, C. R. Boland, W. Bugbee, D. L. Boyle, and G. S. Firestein (2003)
J. Immunol.
170, 2214-2220
| Abstract »
| Full Text »
| PDF »
- A novel algorithm for computational identification of contaminated EST libraries.
- R. Sorek and H. M. Safer (2003)
Nucleic Acids Res.
31, 1067-1074
| Abstract »
| Full Text »
| PDF »
- Mismatch Repair Genes hMLH1 and hMSH2 and Colorectal Cancer: A HuGE Review.
- R. J. Mitchell, S. M. Farrington, M. G. Dunlop, and H. Campbell (2002)
Am. J. Epidemiol.
156, 885-902
| Abstract »
| Full Text »
| PDF »
- Screening for microsatellite instability target genes in colorectal cancers.
- S Vilkki, V Launonen, A Karhu, P Sistonen, I Vastrik, and L A Aaltonen (2002)
J. Med. Genet.
39, 785-789
| Abstract »
| Full Text »
| PDF »
- The Genetics of Colorectal Cancer.
- P. M. Calvert and H. Frucht (2002)
Ann Intern Med
137, 603-612
| Abstract »
| Full Text »
| PDF »
- Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
- G Kurzawski, J Suchy, J Kladny, K Safranow, A Jakubowska, P Elsakov, V Kucinskas, J Gardovski, A Irmejs, H Sibul, et al. (2002)
J. Med. Genet.
39, e65-65
| Full Text »
| PDF »
- Microsatellite Instability in Japanese vs European American Patients With Gastric Cancer.
- C. P. Theuer, B. S. Campbell, D. J. Peel, F. Lin, P. Carpenter, A. Ziogas, and J. A. Butler (2002)
Arch Surg
137, 960-966
| Abstract »
| Full Text »
| PDF »
- hMLH1 and hMSH2 Gene Mutation in Brazilian Families With Suspected Hereditary Nonpolyposis Colorectal Cancer.
- B. M. Rossi, A. Lopes, F. Oliveira Ferreira, W. T. Nakagawa, C. C. Napoli Ferreira, J. C. Casali da Rocha, C. C. Simpson, and A. J. G. Simpson (2002)
Ann. Surg. Oncol.
9, 555-561
| Abstract »
| Full Text »
| PDF »
- Management of women with a family history of breast cancer in the North West Region of England: training for implementing a vision of the future.
- M McAllister, K O'Malley, P Hopwood, B Kerr, A Howell, and D G R Evans (2002)
J. Med. Genet.
39, 531-535
| Full Text »
| PDF »
- Mutations within the hMLH1 and hPMS2 Subunits of the Human MutLalpha Mismatch Repair Factor Affect Its ATPase Activity, but Not Its Ability to Interact with hMutSalpha.
- M. Raschle, P. Dufner, G. Marra, and J. Jiricny (2002)
J. Biol. Chem.
277, 21810-21820
| Abstract »
| Full Text »
| PDF »
- Frequent Germline Mutations and Somatic Repeat Instability in DNA Mismatch-Repair-Deficient Caenorhabditis elegans.
- M. Tijsterman, J. Pothof, and R. H. A. Plasterk (2002)
Genetics
161, 651-660
| Abstract »
| Full Text »
| PDF »
- Mutations at Coding Repeat Sequences in Mismatch Repair-deficient Human Cancers: Toward a New Concept of Target Genes for Instability.
- A. Duval and R. Hamelin (2002)
Cancer Res.
62, 2447-2454
| Abstract »
| Full Text »
| PDF »
- An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1.
- P Hutter, J Wijnen, C Rey-Berthod, I Thiffault, P Verkuijlen, D Farber, N Hamel, B Bapat, S N Thibodeau, J Burn, et al. (2002)
J. Med. Genet.
39, 323-327
| Abstract »
| Full Text »
| PDF »
- Human Exonuclease I Is Required for 5' and 3' Mismatch Repair.
- J. Genschel, L. R. Bazemore, and P. Modrich (2002)
J. Biol. Chem.
277, 13302-13311
| Abstract »
| Full Text »
| PDF »
- A new mutator phenotype in breast cancer?.
- J. G. de Boer (2002)
PNAS
99, 3368-3369
| Full Text »
| PDF »
- Genetic instability favoring transversions associated with ErbB2-induced mammary tumorigenesis.
- S. Liu, W. Liu, J. L. Jakubczak, G. L. Erexson, K. R. Tindall, R. Chan, W. J. Muller, S. Adhya, S. Garges, and G. Merlino (2002)
PNAS
99, 3770-3775
| Abstract »
| Full Text »
| PDF »
- Sequence dependent instability of mononucleotide microsatellites in cultured mismatch repair proficient and deficient mammalian cells.
- J. C. Boyer, N. A. Yamada, C. N. Roques, S. B. Hatch, K. Riess, and R. A. Farber (2002)
Hum. Mol. Genet.
11, 707-713
| Abstract »
| Full Text »
| PDF »
- Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
- M Cravo, A J Afonso, P Lage, C Albuquerque, L Maia, C Lacerda, P Fidalgo, P Chaves, C Cruz, and C Nobre-Leitao (2002)
Gut
50, 405-412
| Abstract »
| Full Text »
| PDF »
- Distinct PTEN mutational spectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomas compared to sporadic microsatellite unstable tumors.
- X.-P. Zhou, S. Kuismanen, M. Nystrom-Lahti, P. Peltomaki, and C. Eng (2002)
Hum. Mol. Genet.
11, 445-450
| Abstract »
| Full Text »
| PDF »
- MSH2 in Contrast to MLH1 and MSH6 Is Frequently Inactivated by Exonic and Promoter Rearrangements in Hereditary Nonpolyposis Colorectal Cancer.
- F. Charbonnier, S. Olschwang, Q. Wang, C. Boisson, C. Martin, M.-P. Buisine, A. Puisieux, and T. Frebourg (2002)
Cancer Res.
62, 848-853
| Abstract »
| Full Text »
| PDF »
- An insight into the genetic pathway of adenocarcinoma of the small intestine.
- J M D Wheeler, B F Warren, N J McC Mortensen, H C Kim, S C Biddolph, G Elia, N E Beck, G T Williams, N A Shepherd, A C Bateman, et al. (2002)
Gut
50, 218-223
| Abstract »
| Full Text »
| PDF »
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