Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer

Human Genetics

Volumn 104, Issue 2, 1999, Pages 167-176

  Bapat, Bharati V ^a   Madlensky, Lisa ^c   Temple, Larissa K F ^c   Hiruki, Tad ^a   Redston, Mark ^a   Baron, David L ^c   Xia, Ling ^a   Marcus, Victoria A ^a   Soravia, Claudio ^c   Mitri, Angela ^a   Shen, Wesley ^a   Gryfe, Robert ^c   Berk, Theresa ^c   Chodirker, Bernard N ^b   Cohen, Zane ^c   Gallinger, Steven ^c  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY OF MANITOBA   (Canada)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COLORECTAL CANCER; DNA REPAIR; FAMILIAL CANCER; FAMILY HISTORY; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BASE PAIR MISMATCH; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; DNA, NEOPLASM; DNA-BINDING PROTEINS; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MICROSATELLITE REPEATS; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PROTO-ONCOGENE PROTEINS;

EID: 0032974189     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050931     Document Type: Article

References (43)

1. Aaltonen LA, Peltomäki P, Mecklin J-P, Järvinen H, Jass JR, Green JS, Lynch HT, Watson P, Tallquist G, Juhola M, Sistonen P, Hamilton SR, Kinzler KW, Vogelstein B, Chapelle A de la (1994a) Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 54:1645-1648
2. Aaltonen LA, Sankila R, Mecklin J-P, Järvinen H, Pukkala E, Peltomäki P, de la Chapelle A (1994b) A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden. Cancer Detect Prev 18:57-63
3. Aarnio M, Mecklin J-P, Aaltonen LA, Nyström-Lahti, Järvinen HJ (1995) Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 64:430-433
4. 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
5. Bapat B, Xia L, Madlensky L, Mitri A, Tonin P, Narod SA, Gallinger S (1996) The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. Am J Hum Genet 59:736-739
6. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani GN, Srivastava (1998) A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58:5248-5257
7. 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 RM (1994) Mutation in the DNA mismatch repair gene homologue hMLHI is associated with hereditary nonpolyposis colon cancer. Nature 368:258-261
8. Charbonnier F, Martin C, Scotte M, Sibert L, Moreau V, Frebourg T (1995) Alternative splicing of MLHI messenger RNA in human normal cells. Cancer Res 55:1839-1841
9. Genuardi M, Anti M, Capozzi E, Leonardi F, Fornasarig M, Novella E, Bellacosa A, Valenti A, Gasbarrini GB, Roncucci L, Benatti P, Percesepe A, Ponz de Leon M, Coco C, Paoli A De, Valentini M, Boiocchi M, Neri G, Viel A (1998) MLHI and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer. Int J Cancer 75:835-839
10. Green SE, Chapman PD, Burn J, Bishop DT, Varma JS (1995) Clinical impact of colonoscopic screening in first-degree relatives of patients with hereditary non-polyposis colorectal cancer. Br J Surg 82:1338-1340
11. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Paslier D Le, Abderrahim H, Cohen D, Leppert M, White R (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66:589-600
12. Hall NR, Murday VA, Chapman P, Williams MAT, Burn J, Finan PJ, Bishop DT (1994) Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome. Eur J Cancer 30:180-182
13. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363:558-561
14. Järvinen HJ, Mecklin J-P, Sistonen P (1995) Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 108:1405-1411
15. Kinzler KW, Vogelstein B (1996) Lessons from hereditary colorectal cancer. Cell 87:159-170
16. 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
17. Kolodner RD (1995) Mismatch repair: mechanisms and relationship to cancer susceptibility. Trends Biochem Sci 20:397-401
18. Kolodner RD, Hall NR, Lipford J, Kane MF, Rao MRS, Morrison P, Wirth L, Finan PJ, Burn J, Chapman P, Earabino C, Merchant E, Bishop DT (1994) Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics 24:516-526
19. Kolodner RD, Hall NR, Lipford J, Kane MF, Morrison PT, Finan PJ, Burn J, Chapman P, Earabino C, Merchant E, Bishop DT (1995) Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res 55:242-248
20. Kunitomo K, Terashima Y, Sasaki K, Komi N, Yosikawa R, Utsunomiya J, Yasutomi M (1992) HNPCC in Japan. Anticancer Res 12:1856-1857
21. Leach SF, 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 REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin J-P, Järvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, Chapelle A de la, Kinzler KW, Vogelstein B (1993) Mutations of mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225
22. Luce MC, Marra G, Chauhan DP, Laghi L, Carethers JM, Cherian SP, Hawn M, Binnie CG, Kam-Morgan LNW, Cayouette MC, Koi M, Boland CR (1995) In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer. Gastroenterology 109:1368-1374
23. Mecklin J-P (1987) Frequency of hereditary colorectal carcinoma. Gastroenterology 93:1021-1025
24. Mecklin J-P, Järvinen HJ (1991) Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 68:1109-1112
25. Menko FH, Verheijen RHM, Everhardt E, Louwé LA, Wijnen JT, Band SC, Felt-Bersma RJF, Vasen HFA, Khan PM (1994) Endometrial cancer in four sisters: report of a kindred with presumed cancer family syndrome. Gynecol Oncol 54:171-174
26. Modrich P (1991) Mechanisms and biological effects of mismatch repair. Annu Rev Genet 25:229-253
27. Moslein G, Tester DJ, Lindor NM, Honchel R, Cunningham JM, French AJ, Hailing KC, Schwab M, Goretzki P, Thibodeau SN (1996) Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet 5:1245-1252
28. Nakahara M, Yokozaki H, Yasui W, Dohi K, Tahara E (1997) Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. Cancer Epidemiol Biomarkers Prev 6:1057-1064
29. National Cancer Institute of Canada (1998) Canadian Cancer Statistics. Toronto, Canada
30. Nicolaides NC, Papadopoulos N, Liu B, Wei Y-F, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Dunlop MG, Hamilton SR, Petersen GM, Chapelle A de la, Vogelstein B, Kinzler KW (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75-80
31. Papadopoulos N, Lindblom A (1997) Molecular basis of HNPCC: mutations of MMR genes. Hum Mutat 10:89-99
32. Peltomäki P, Vasen HFA, International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. Gastroenterology 113:1146-1158
33. Percesepe A, Anti M, Roncucci L, Armelao F, Marra G, Pahor M, Coco C, Gasbarrini G, Ponz de Leon M (1995) The effect of family size on estimates of the frequency of hereditary non-polyposis colorectal cancer. Br J Cancer 72:1320-1323
34. Risinger JI, Berchuck A, Kohler MF, Watson P, Lynch HT, Boyd J (1993) Genetic instability of microsatellites in endometrial carcinoma. Cancer Res 53:5100-5103
35. Rodriguez-Bigas MA, Boland R, Hamilton S, Henson DE, Jass JR, Khan PM, Lynch H, Perucho M, Smyrk T, Sobin L, Srivastava S (1997) A National Cancer Institute workshop on hereditary non-polyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89:1758-1762
36. Schaaper R (1993) Base selection, proofreading and mismatch repair during DNA replication in Escherichia coli. J Biol Chem 268:23762-23765
37. Stephenson BM, Finan PJ, Gascoyne J, Garbett F, Murday VA, Bishop DT (1991) Frequency of familial colorectal cancer. Br J Surg 78:1162-1166
38. Vasen HFA, Mecklin J-P, Khan PM, Lynch HT (1991) The International Collaborative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34:424-425
39. Wahlberg SS, Nyström-Lahti M, Kane MF, Kolodner RD, Peltomäki P, Lindblom A (1997) Low frequency of hMSH2 mutations in Swedish HNPCC families. Int J Cancer (Pred Oncol) 74:134-137
40. Westlake PJ, Bryant HE, Huchcroft SA, Sutherland LR (1991) Frequency of hereditary nonpolyposis colorectal cancer in Southern Alberta. Dig Dis Sci 36:1441-1447
41. Wijnen J, Khan PM, Vasen H, Klift H van der, Mulder A, Leeuwen-Cornelisse I van, Bakker B, Losekoot M, Møller 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
42. Wijnen JT, Vasen HFA, Khan M, Zwinderman AH, Klift H van der, Mulder A, Tops C, Moller P, Fodde R (1998) N Engl J Med 339:511-518
43. Xia L, Shen W, Ritacca F, Mitri A, Madlensky L, Berk T, Cohen Z, Gallinger S, Bapat B (1996) A truncated hMSH2 transcript occurs as a frequent variant in the population. Cancer Res 56:2285-2292