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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

articles

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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Tumor Microsatellite Instability in Early Onset Gastric Cancer.
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Assay Validation for Identification of Hereditary Nonpolyposis Colon Cancer-Causing Mutations in Mismatch Repair Genes MLH1, MSH2, and MSH6.
M. Hegde, M. Blazo, B. Chong, T. Prior, and C. Richards (2005)
J. Mol. Diagn. 7, 525-534
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M. O. Woods, A. J. Hyde, F. K. Curtis, S. Stuckless, J. S. Green, A. F. Pollett, J. D. Robb, R. C. Green, M. E. Croitoru, A. Careen, et al. (2005)
Clin. Cancer Res. 11, 6853-6861
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Isolated Loss of PMS2 Expression in Colorectal Cancers: Frequency, Patient Age, and Familial Aggregation.
S. Gill, N. M. Lindor, L. J. Burgart, R. Smalley, O. Leontovich, A. J. French, R. M. Goldberg, D. J. Sargent, J. R. Jass, J. L. Hopper, et al. (2005)
Clin. Cancer Res. 11, 6466-6471
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Human AP endonuclease suppresses DNA mismatch repair activity leading to microsatellite instability.
I.-Y. Chang, S.-H. Kim, H.-J. Cho, D. Y. Lee, M.-H. Kim, M.-H. Chung, and H. J. You (2005)
Nucleic Acids Res. 33, 5073-5081
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Differential nonsense mediated decay of mutated mRNAs in mismatch repair deficient colorectal cancers.
J. El-Bchiri, O. Buhard, V. Penard-Lacronique, G. Thomas, R. Hamelin, and A. Duval (2005)
Hum. Mol. Genet. 14, 2435-2442
   Abstract »    Full Text »    PDF »
Immunohistochemistry Identifies Carriers of Mismatch Repair Gene Defects Causing Hereditary Nonpolyposis Colorectal Cancer.
A. T. Stormorken, I. M. Bowitz-Lothe, T. Noren, E. Kure, S. Aase, J. Wijnen, J. Apold, K. Heimdal, and P. Moller (2005)
J. Clin. Oncol. 23, 4705-4712
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Mutations in Two Short Noncoding Mononucleotide Repeats in Most Microsatellite-Unstable Colorectal Cancers.
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)
Cancer Res. 65, 4607-4613
   Abstract »    Full Text »    PDF »
Association between family history and mismatch repair in colorectal cancer.
R P Coggins, L Cawkwell, S M Bell, G P Crockford, P Quirke, P J Finan, and D T Bishop (2005)
Gut 54, 636-642
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Microsatellite Analysis of Hereditary Nonpolyposis Colorectal Cancer-Associated Colorectal Adenomas by Laser-Assisted Microdissection: Correlation with Mismatch Repair Protein Expression Provides New Insights in Early Steps of Tumorigenesis.
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J. Mol. Diagn. 7, 160-170
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Accuracy of Revised Bethesda Guidelines, Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer.
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)
JAMA 293, 1986-1994
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Psychological Impact of Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer.
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)
J. Clin. Oncol. 23, 1902-1910
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Methylator-induced, Mismatch Repair-dependent G2 Arrest Is Activated through Chk1 and Chk2.
A. W. Adamson, D. I. Beardsley, W.-J. Kim, Y. Gao, R. Baskaran, and K. D. Brown (2005)
Mol. Biol. Cell 16, 1513-1526
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Mutants with Temperature-Sensitive Defects in the Escherichia coli Mismatch Repair System: Sensitivity to Mispairs Generated In Vivo.
E. S. Hong, A. Yeung, P. Funchain, M. M. Slupska, and J. H. Miller (2005)
J. Bacteriol. 187, 840-846
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Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.
A. R. Ellison, J. Lofing, and G. A. Bitter (2004)
Nucleic Acids Res. 32, 5321-5338
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Is hEXO1 a Cancer Predisposing Gene?.
S. E. Liberti and L. J. Rasmussen (2004)
Mol. Cancer Res. 2, 427-432
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Measurement of DNA mismatch repair activity in live cells.
X. Lei, Y. Zhu, A. Tomkinson, and L. Sun (2004)
Nucleic Acids Res. 32, e100
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A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
E Mangold, C Pagenstecher, M Leister, M Mathiak, A Rutten, W Friedl, P Propping, T Ruzicka, and R Kruse (2004)
J. Med. Genet. 41, 567-572
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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)
J. Biol. Chem. 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)
J. Med. Genet. 41, e72
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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)
Clin. Cancer Res. 10, 3082-3090
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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)
J. Biol. Chem. 279, 16912-16917
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The mutator pathway is a feature of immunodeficiency-related lymphomas.
A. Duval, M. Raphael, C. Brennetot, H. Poirel, O. Buhard, A. Aubry, A. Martin, A. Krimi, V. Leblond, J. Gabarre, et al. (2004)
PNAS 101, 5002-5007
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Characterization of Pathogenic Human MSH2 Missense Mutations Using Yeast as a Model System: A Laboratory Course in Molecular Biology.
A. E. Gammie and N. Erdeniz (2004)
CBE Life Sci Educ 3, 31-48
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A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.
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
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The Correlation of Microsatellite Instability and Tumor-infiltrating Lymphocytes in Hereditary Non-polyposis Colorectal Cancer (HNPCC) and Sporadic Colorectal Cancers: the Significance of Different Types of Lymphocyte Infiltration.
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
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MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation.
Y. Wang and J. Qin (2003)
PNAS 100, 15387-15392
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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)
Mol. Pathol. 56, 263-269
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Proportion and Phenotype of MYH-Associated Colorectal Neoplasia in a Population-Based Series of Finnish Colorectal Cancer Patients.
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)
Am. J. Pathol. 163, 827-832
   Abstract »    Full Text »    PDF »
The Impact of Microsatellite Instability on the Molecular Phenotype of Colorectal Tumors.
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)
Cancer Res. 63, 4577-4582
   Abstract »    Full Text »    PDF »
An Intron Splice Acceptor Polymorphism in hMSH2 and Risk of Leukemia after Treatment with Chemotherapeutic Alkylating Agents.
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)
Clin. Cancer Res. 9, 3012-3020
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Tumor Microsatellite-Instability Status as a Predictor of Benefit from Fluorouracil-Based Adjuvant Chemotherapy for Colon Cancer.
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)
N. Engl. J. Med. 349, 247-257
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A Specific Genetic Alteration on Chromosome 6 in Ulcerative Colitis-associated Colorectal Cancers.
T. Ezaki, M. Watanabe, N. Inoue, T. Kanai, H. Ogata, Y. Iwao, H. Ishii, and T. Hibi (2003)
Cancer Res. 63, 3747-3749
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A Multiprotein Nuclear Complex Connects Fanconi Anemia and Bloom Syndrome.
A. R. Meetei, S. Sechi, M. Wallisch, D. Yang, M. K. Young, H. Joenje, M. E. Hoatlin, and W. Wang (2003)
Mol. Cell. Biol. 23, 3417-3426
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Dimerization of MLH1 and PMS2 Limits Nuclear Localization of MutL{alpha}.
X. Wu, J. L. Platt, and M. Cascalho (2003)
Mol. Cell. Biol. 23, 3320-3328
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Variation in the extent of microsatellite instability in human cell lines with defects in different mismatch repair genes.
N.A. Yamada, A. Castro, and R.A. Farber (2003)
Mutagenesis 18, 277-282
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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
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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
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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
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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
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A novel algorithm for computational identification of contaminated EST libraries.
R. Sorek and H. M. Safer (2003)
Nucleic Acids Res. 31, 1067-1074
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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
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The Genetics of Colorectal Cancer.
P. M. Calvert and H. Frucht (2002)
Ann Intern Med 137, 603-612
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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
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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
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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
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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
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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
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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
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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
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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
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A new mutator phenotype in breast cancer?.
J. G. de Boer (2002)
PNAS 99, 3368-3369
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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
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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
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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
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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
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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
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