Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer

International Journal of Oncology

Volumn 13, Issue 3, 1998, Pages 565-569

  Viel, Alessandra ^a   Novella, Elisabetta ^a   Genuardi, Maurizio ^b   Capozzi, Eugenia ^a   Fornasarig, Mara ^a   Pedroni, Monica ^c   Santarosa, Manuela ^a   Ponz De Leon, Maurizio ^c   Puppa, Lara Della ^a   Anti, Marcello ^b   Boiocchi, Mauro ^a  

^a CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Hereditary colorectal cancer; HNPCC; Mutation; PMS2; Polymorphism

Indexed keywords

DNA;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COLORECTAL CANCER; FAMILIAL CANCER; GENE DELETION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; ITALY; MICROSATELLITE INSTABILITY; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 13144252165     PISSN: 10196439     EISSN: None     Source Type: Journal    
DOI: 10.3892/ijo.13.3.565     Document Type: Article

References (31)

1. Bellacosa A, Genuardi M, Anti M, Viel A and Ponz de Leon M: Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. Am J Med Genet 62: 353-364, 1996.
2. Lynch HT, Smyrk T and Lynch J: An update of HNPCC (Lynch syndrome). Cancer Genet Cytogenet 93: 84-99, 1997.
3. Umar A, Boyer JC and Kunkel TA: DNA loop repair by human cell extracts. Science 266: 814-816, 1994.
4. Fishel R, Ewel A, Lee S, Lescoe MK and Griffith J: Binding of mismatched microsatellite DNA sequences by the human MSH2 protein. Science 266: 1403-1405, 1994.
5. Baker SM, Plug AW, Prolla TA, Bronner CE, Harris AC, Yao X, Christie DM, Monell C, Arnheim N, Bradley A, Ashley T and Liskay RM: Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over. Nat Genet 13: 336-342, 1996.
6. Hawn MT, Umar A, Carethers JM, Marra G, Kunkel TA, Boland CR and Koi M: Evidence for a connection between the mismatch repair system and the G2 cell cycle checkpoint. Cancer Res 55: 3721-3725, 1995.
7. Mellon I, Rajpal DK, Koi M, Boland CR and Champe GN: Transcription-coupled repair deficiency and mutations in human mismatch repair genes. Science 272: 557-560, 1996.
8. 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 J, De la Chapelle A, Kinzler KW and Vogelstein B: Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625-1629, 1994.
9. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomäki P, Sistonen P, Aaltonen LA, Nyström-Lahti M, Guan X-Y, Zhang J, Meltzer PS, Yu J-W, Kao F-T, Chen DJ, Cerosaletti KM, Fournier RE, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin J, Järvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, De la Chapelle A, Kinzler KW and Vogelstein B: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75: 1215-1225, 1993.
10. Peltomäki P, Vasen HF and the ICG-HNPCC: 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, 1997.
11. Papadopoulos N, Nicolaides NC, Liu B, Parsons R, Lengauer C, Palombo F, D'Arrigo A, Markowitz S, Willson JK, Kinzler KW, Jiricny J and Vogelstein B: Mutations of GTBP in genetically unstable cells. Science 268: 1915-1917, 1995.
12. Malkhosyan S, Rampino N, Yamamoto H and Perucho M: Frameshift mutator mutations. Nature 382: 499-500, 1996.
13. Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R and Yuasa Y: Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 57: 3920-3923, 1997.
14. Miyaki M, Konishi M, Tanaka K, Kikuchi Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M and Mori T: Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 17: 271-272, 1997.
15. 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 and Kinzler KW: Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371: 75-80, 1994.
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 GA, Tersmette AC, Giardiello FM, Vogelstein B and Kinzler KW: The molecular basis of Turcot's syndrome. N Engl J Med 332: 839-847, 1995.
17. Miyaki M, Nishio J, Konishi M, Kikuchi-Yanoshita R, Tanaka K, Muraoka M, Nagato M, Chong JM, Koike M, Terada T, Kawahara Y, Fukutome A, Tomiyama J, Chuganji Y, Momoi M and Utsunomiya J: Drastic genetic instability of tumors and normal tissues in Turcot syndrome. Oncogene 15: 2877-2881, 1997.
18. Horii A, Han HJ, Sasaki S, Shimada M and Nakamura Y: Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. Biochem Biophys Res Commun 204: 1257-1264, 1994.
19. Nicolaides NC, Carter KC, Shell BK, Papadopoulos N, Vogelstein B and Kinzler KW: Genomic organization of the human PMS2 gene family. Genomics 30: 195-206, 1995.
20. Risinger JI, Ümar A, Barrett JC and Kunkel TA: A hPMS2 mutant cell line is defective in strand-specific mismatch repair. J Biol Chem 270: 18183-18186, 1995.
21. Pensotti V, Radiee P, Presciuttini S, Calistri D, Gazzoli I, Grimait Perez A, Mondini P, Buonsanti G, Sala P, Rossetti C, Ranzani GN, Bertario L and Pierotti MA: Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes. Genes Chromosomes Cancer 19: 135-142, 1997.
22. Viel A, Genuardi M, Capozzi E, Leonardi F, Bellacosa A, Paravatou Petsotas M, Pomponi MG, Fornasarig M, Percesepe A, Roncucci L, Tamassia MG, Benatti P, Ponz de Leon M, Valenti A, Covino M, Anti M, Foletto M, Boiocchi M and Neri G: Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. Genes Chromosomes Cancer 18: 8-18, 1997.
23. Genuardi M, Anti M, Capozzi E, Leonardi F, Fornasarig M, Novella E, Bellacosa A, Valenti A, Gasbarrini G, Roncucci L, Benatti P, Percesepe A, Ponz de Leon M, Coco C, De Paoli A, Valentini M, Boiocchi M, Neri G and Viel A: MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer. Int J Cancer 75: 835-839, 1998.
24. Liu B, Nicolaides NC, Markowitz S, Willson JK, Parsons RE, Jen J, Papadopolous N, Peltomäki P, De la Chapelle A, Hamilton SR, Kinzler KW and Vogelstein B: Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet 9: 48-55, 1995.
25. Parsons R, Li GM, Longley M, Modrich P, Liu B, Berk T, Hamilton SR, Kinzler KW and Vogelstein B: Mismatch repair deficiency in phenotypically normal human cells. Science 268: 738-740, 1995.
26. Narayanan L, Fritzell JA, Baker SM, Liskay RM and Glazer PM: Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene Pms2. Proc Natl Acad Sci USA 94: 3122-3127, 1997.
27. Boyer JC, Umar A, Risinger JI, Lipford JR, Kane M, Yin S, Barrett JC, Kolodner RD and Kunkel TA: Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines. Cancer Res 55: 6063-6070, 1995.
28. Hackman P, Tannergard P, Osei Mensa S, Chen J, Kane MF, Kolodner R, Lambert B, Hellgren D and Lindblom A: A human compound heterozygote for two MLH1 missense mutations. Nat Genet 17: 135-136, 1997.
29. Acharya S, Wilson T, Gradia S, Kane M, Guerrette S, Marsischky G, Kolodner R and Fishel R: hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc Natl Acad Sci USA 93: 13629-13634, 1996.
30. Edelmann W, Yang K, Umar A, Heyer J, Lau K, Fan K, Liedtke W, Cohen PE, Kane MF, Lipford JR, Yu N, Crouse GF, Pollard JW, Kunkel T, Lipkin M, Kolodner R and Kucherlapati R: Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell 91: 467-477, 1997.
31. Li GM and Modrich P: Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs. Proc Natl Acad Sci USA 92: 1950-1954, 1995.