Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

Genes Chromosomes and Cancer

Volumn 44, Issue 2, 2005, Pages 123-138

  Van Der Klift, Heleen ^a   Wijnen, Juul ^a   Wagner, Anja ^c   Verkuilen, Paul ^a   Tops, Carli ^a   Otway, Robyn ^d   Kohonen Corish, Maija ^d,e   Vasen, Hans ^f   Oliani, Cristina ^g   Barana, Daniela ^g   Moller, Pal ^h   DeLozier Blanchet, Celia ⁱ   Hutter, Pierre ^j   Foulkes, William ^k   Lynch, Henry ^l   Burn, John ^m   Möslein, Gabriela ⁿ   Fodde, Riccardo ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d Biology and Environment   (Australia)

^e GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^f Foundation for the Detection of Hereditary Tumours   (Netherlands)

^g UNIVERSITY OF VERONA   (Italy)

^h OSLO UNIVERSITY HOSPITAL   (Norway)

ⁱ UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^j Institut Central des Hopitaux Valaisans   (Switzerland)

^k MCGILL UNIVERSITY   (Canada)

^l CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m NEWCASTLE UNIVERSITY   (United Kingdom)

ⁿ HEINRICH HEINE UNIVERSITY   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ALU SEQUENCE; AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME BREAKAGE; CHROMOSOME INVERSION; COLORECTAL CANCER; EVOLUTION; GENE DELETION; GENE INSERTION; GENE LOCUS; GENE REARRANGEMENT; GENETIC PREDISPOSITION; GENETIC RECOMBINATION; GENETIC VARIABILITY; HUMAN; INTRON; LABORATORY DIAGNOSIS; LONG INTERSPERSED REPEAT; MAJOR CLINICAL STUDY; MISMATCH REPAIR; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING;

ADENOSINE TRIPHOSPHATASES; BASE PAIR MISMATCH; BLOTTING, SOUTHERN; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; GENE DELETION; GENE REARRANGEMENT; HUMANS; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS;

EID: 24944480082     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/gcc.20219     Document Type: Article

References (56)

1. Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltomaki P, Mecklin JP, Jarvinen HJ. 1999. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81:214-218.
2. Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R, Yuasa Y. 1997. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 57:3920-3923.
3. Barana D, van der Klift H, Wijnen J, Longa ED, Radice P, Cetto GL, Fodde R, Oliani C. 2004. Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. Am J Med Genet 125A:318-319.
4. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, Tannergård P, Bollag RJ, Godwin AR, Ward DC, Nordenskjøld M, Fishel R, Kolodner R, Liskay M. 1994. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer. Nature 368:258-261.
5. Burn J, Chapman PD, Bishop DT, Mathers J. 1998. Diet and cancer prevention: the concerted action polyp prevention (CAPP) studies. Proc Nutr Soc 57:183-186.
6. Burwinkel B, Kilimann MW. 1998. Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. J Mol Biol 277:513-517.
7. Cao X, Eu KW, Seow-Choen F, Zhao Y, Cheah PY. 2001. Topoisomerase-I- and Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis. Hum Genet 108:436-442.
8. Chan TL, Yuen ST, Ho JW, Chan AS, Kwan K, Chung LP, Lam PW, Tse CW, Leung SY. 2001. A novel germline 1.8-kb deletion of hMLH1 mimicking alternative splicing: a founder mutation in the Chinese population. Oncogene 20:2976-2981.
9. Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, Saurin JC, Puisieux A, Olschwang S, Frebourg T. 2000. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res 60:2760-2763.
10. Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, Puisieux A, Frebourg T. 2002. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 62:848-853.
11. de Leeuw WJ, Dierssen J, Vasen HF, Wijnen JT, Kenter GG, Meijers-Heijboer H, Brocker-Vriends A, Stormorken A, Moller P, Menko F, Cornelisse CJ, Morreau H. 2000. Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients. J Pathol 192:328-335.
12. De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT. 2004. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 74:954-964.
13. Di Fiore F, Charbonnier F, Martin C, Frerot S, Olschwang S, Wang Q, Boisson C, Buisine MP, Nilbert M, Lindblom A, Frebourg T. 2004. Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC. J Med Genet 41:18-20.
14. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R. 1993. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75:1027-1038.
15. Gille JJ, Hogervorst FB, Pals G, Wijnen JT, van Schooten RJ, Dommering CJ, Meijer GA, Craanen ME, Nederlof PM, de Jong D, McElgunn CJ, Schouten JP, Menko FH. 2002. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer 87:892-897.
16. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B, Burger PC, Wood PA, Taqi F, Booker SV, Petersen GM, Offerhaus GJA, Tersmette AC, Giardiello FM, Vogelstein B, Kinzler KW. 1995. The molecular basis of Turcot's syndrome. N Engl J Med 332:839-847.
17. Hayward BE, De Vos M, Sheridan E, Bonthron DT. 2004. PMS2 mutations in HNPCC. Clin Genet 66:566-567.
18. Hendriks YM, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F, Sandkuijl L, Moller P, Genuardi M, Van Houwelingen H, Tops C, Van Puijenbroek M, Verkuijlen P, Kenter G, Van Mil A, Meijers-Heijboer H, Tan GB, Breuning MH, Fodde R, Wijnen JT, Brocker-Vriends AH, Vasen H. 2004. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 127:17-25.
19. Hoeijmakers JH. 2001. Genome maintenance mechanisms for preventing cancer. Nature 411:366-374.
20. Kariya Y, Kato K, Hayashizaki Y, Himeno S, Tarui S, Matsubara K. 1987. Revision of consensus sequence of human Alu repeats-a review. Gene 53:1-10.
21. Kohonen-Corish MR, Doe WF, St John DJ, Macrae FA. 1995. Chromosome 2p linkage analysis in hereditary non-polyposis colon cancer. J Gastroenterol Hepatol 10:76-80.
22. Kohonen-Corish M, Ross VL, Doe WF, Kool DA, Edkins E, Faragher I, Wijnen J, Khan PM, Macrae F, St John DJ. 1996. RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. Am J Hum Genet 59:818-824.
23. Kolodner RD, Tytell JD, Schmeits JL, Kane MF, Gupta RD, Weger J, Wahlberg S, Fox EA, Peel D, Ziogas A, Garber JE, Syngal S, Anton-Culver H, Li FP. 1999. Germ-line msh6 mutations in colorectal cancer families. Cancer Res 59:5068-5074.
24. Li WH, Gu Z, Wang H, Nekrutenko A. 2001. Evolutionary analyses of the human genome. Nature 409:847-849.
25. Lynch HT. 1999. Hereditary nonpolyposis colorectal cancer (HNPCC). Cytogenet Cell Genet 86:130-135.
26. Lynch HT, Coronel SM, Okimoto R, Hampel H, Sweet K, Lynch JF, Barrows A, Wijnen J, van der Klift H, Franken P, Wagner A, Fodde R, de la Chapelle A. 2004. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. Jama 291:718-724.
27. Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T. 1997. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 17:271-272.
28. Nakagawa H, Hampel H, de la Chapelle A. 2003. Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques. Hum Mutat 22:258.
29. Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A. 2004. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res 64:4721-4727.
30. Nicholls RD, Fischel-Ghodsian N, Higgs DR. 1987. Recombination at the human alpha-globin gene cluster: sequence features and topological constraints. Cell 49:369-378.
31. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Dunlop MG, Hamilton SR, Petersen GM, De la Chapelle A, Vogelstein B, Kinzler KW. 1994. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75-80.
32. Nystrom-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA, Moisio AL, Jarvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B, De la Chapelle A, Peltomäki 1995. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1:1203-1206.
33. Otway R, Tetlow N, Hornby J, Kohonen-Corish M. 2000. Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer. Hum Mutat 16:61-67.
34. Peltomaki P, Vasen HF. 1997. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 113:1146-1158.
35. Plaschke J, Ruschoff J, Schackert HK. 2003. Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome. J Med Genet 40:597-600.
36. Rudiger NS, Gregersen N, Kielland-Brandt MC. 1995. One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 23:256-260.
37. Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, Zhou J. 1999. LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am J Hum Genet 64:62-69.
38. Sironi M, Pozzoli U, Cagliani R, Giorda R, Comi GP, Bardoni A, Menozzi G, Bresolin N. 2003. Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot. Hum Genet 112:272-288.
39. Smit AF. 1996. The origin of interspersed repeats in the human genome. Curr Opin Genet Dev 6:743-748.
40. Szala S, Froehlich M, Scollon M, Kasai Y, Steplewski Z, Koprowski H, Linnenbach AJ. 1990. Molecular cloning of cDNA for the carcinoma-associated antigen GA733-2. Proc Natl Acad Sci USA 87: 3542-3546.
41. Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. 2003. Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum Mutat 22:428-433.
42. Thompson E, Meldrum CJ, Crooks R, McPhillips M, Thomas L, Spigelman AD, Scott RJ. 2004. Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. Clin Genet 65:215-225.
43. Vasen HF, Mecklin JP, Khan PM, Lynch HT. 1991. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 34:424-425.
44. Vasen HF, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, Nagengast FM, Meijers-Heijboer EH, Bertario L, Varesco L, Bisgaard ML, Mohr J, Fodde R, Khan PM. 1996. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 110: 1020-1027.
45. Vasen HF, Watson P, Mecklin JP, Lynch HT. 1999. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 116:1453-1456.
46. Viel A, Petronzelli F, Della Puppa L, Lucci-Cordisco E, Fornasarig M, Pucciarelli S, Rovella V, Quaia M, Ponz de Leon M, Boiocchi M, Genuardi M. 2002. Different molecular mechanisms underlie genomic deletions in the MLH1 Gene. Hum Mutat 20:368-374.
47. Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Brocker-Vriends AH, van Der Meer C, Lindhout D, Vasen HF, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen J, Fodde R. 2001. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet 38:318-322.
48. Wagner A, van der Klift H, Franken P, Wijnen J, Breukel C, Bezrookove V, Smits R, Kinarsky Y, Barrows A, Franklin B, Lynch J, Lynch H, Fodde R. 2002. A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred. Genes Chromosomes Cancer 35:49-57.
49. Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R. 2003. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet 72:1088-1100.
50. Wang Y, Friedl W, Lamberti C, Jungck M, Mathiak M, Pagenstecher C, Propping P, Mangold E. 2003. Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int J Cancer 103:636-641.
51. Wijnen J, Khan PM, Vasen H, Menko F, van der Klift H, van den Broek M, van Leeuwen-Cornelisse I, Nagengast F, Meijers-Heijboer EJ, Lindhout D, Griffioen G, Cats A, Kleibeuker J, Varesco L, Bertario L, Bisgaard ML, Mohr J, Kolodner R, Fodde R. 1996. Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. Am J Hum Genet 58:300-307.
52. Wijnen J, Khan PM, Vasen H, van der Klift H, Mulder A, van Leeuwen-Cornelisse I, Bakker B, Losekoot M, Moller P, Fodde R. 1997. Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. Am J Hum Genet 61:329-335.
53. Wijnen J, van der Klift H, Vasen H, Khan PM, Menko F, Tops C, Meijers Heijboer H, Lindhout D, Moller P, Fodde R. 1998a. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 20:326-328.
54. Wijnen JT, Vasen HF, Khan PM, Zwinderman AH, van der Klift H, Mulder A, Tops C, Moller P, Fodde R. 1998b. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 339:511-518.
55. Wijnen J, de Leeuw W, Vasen H, van der Klift H, Moller P, Stormorken A, Meijers-Heijboer H, Lindhout D, Menko F, Vossen S, Moslein G, Tops C, Brocker-Vriends A, Wu Y, Hofstra R, Sijmons R, Cornelisse C, Morreau H, Fodde R. 1999. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 23:142-144.
56. Yan H, Papadopoulos N, Marra G, Perrera C, Jiricny J, Boland CR, Lynch HT, Chadwick RB, de la Chapelle A, Berg K, Eshleman JR, Yuan W, Markowitz S, Laken SJ, Lengauer C, Kinzler KW, Vogelstein B. 2000. Conversion of diploidy to haploidy. Nature 403:723-724.