Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients

American Journal of Pathology

Volumn 163, Issue 3, 2003, Pages 827-832

  Enholm, Susa ^a   Hienonen, Tuija ^a   Suomalainen, Anu ^a   Lipton, Lara ^b   Tomlinson, Ian ^b   Kärjä, Vesa ^c   Eskelinen, Matti ^c   Mecklin, Jukka Pekka ^d   Karhu, Auli ^a   Järvinen, Heikki J ^e   Aaltonen, Lauri A ^a,f  

^a UNIVERSITY OF HELSINKI   (Finland)

^b IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

^d JYVÄSKYLÄ CENTRAL HOSPITAL   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f Department of Medical Genetics ^*  (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOMATOUS POLYP; ADULT; AGED; ALLELE; ARTICLE; CANCER REGISTRY; CAUCASIAN; CLINICAL ARTICLE; COLON ADENOMA; COLORECTAL CANCER; COLORECTAL TUMOR; CONTROLLED STUDY; EXCISION REPAIR; EXON; FAMILIAL DISEASE; FEMALE; FINLAND; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MALE; MYH GENE; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

EID: 0041423452     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)63443-8     Document Type: Article

References (31)

1. Cannon-Albright LA, Skolnick MH, Bishop DT, Lee RG, Burt RW: Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N Engl J Med 1988, 319:533-537
2. Houlston RS, Collins A, Slack J, Norton NE: Dominant genes for colorectal cancer are not rare. Ann Hum Genet 1992, 56:99-103
3. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K: Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2000, 343:78-85
4. Leach F, Nicolaides N, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomäki P, Sistonen P, Aaltonen L, 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, de la Chapelle A, Kinzler KW, Vogelstein B: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993, 75:1215-1225
5. Fishel R, Lescoe M, Rao M, Copeland N, Jenkins N, Garber J, Kane M, Kolodner R: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993, 75:1027-1038
6. Bronner C, Baker S, Morrison P, Warren G, Smith L, Lescoe M, Kane M, Earabino C, Lipford J, Lindblom A, Tannengård P, Bollag R, Godwin A, Ward D, Nordenskjöld M, Fishel R, Kolodner R, Liskay R: Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994, 368:258-261
7. Papadopoulos N, Nicolaides N, Wei Y, Ruben S, Carter K, Rosen C, Haseltine W, Fleischmann R, Fraser C, Adams M, Venter J, Hamilton S, Petersen G, Watson P, Lynch H, Peltomäki P, Mecklin J-P, de la Chapelle A, Kinzler K, Vogelstein B: Mutation of mutL homolog in hereditary colon cancer Science 1994, 263:1625-1629
8. Nicolaides N, Papadopoulos N, Liu B, Wei Y, Carter K, Ruben S, Rosen C, Haseltine W, Fleischmann R, Fraser C, Adams M, Venter J, Dunlop M, Hamilton S, Petersen G, de la Chapelle A, Vogelstein B, Kinzler K: Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994, 371:75-80
9. Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T: Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997, 17:271-272
10. Groden J, Thiliveris 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, LePaslier D, Abderrahim H, Cohen D, Leppert M, White R: Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991, 66:589-600
11. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Koyama K, Utsunomiya J, Baba S, Hedge P, Markham A, Krush AJ, Peterson G, Hamilton SR, Nilbert MC, Levy DB, Bryan TM, Preisinger AC, Smith KJ, Su LK, Kinzler KW, Vogelstein B: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991, 253:665-669
12. Mulvihill JJ: The frequency of hereditary large bowel cancer. Prevention of Hereditary Large Bowel Cancer. Edited by JR Ingall, AJ Mastromarino. New York, Alan R Liss, 1983, pp 61-75
13. Järvinen HJ: Epidemiology of familial adenomatous polyposis in Finland: impact of family screening on the colorectal cancer rate and survival. Gut 1992, 33:357-360
14. Howe JR, Roth S, Ringold JC, Summers RW, Järvinen HJ, Sistonen P, Tomlinson IPM, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA: Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998, 289:1086-1088
15. Howe JR, Bair JL, Sayed MG, Anderson ME, Mitros FA, Petersen GM, Velculescu VE, Traverso G, Vogelstein B: Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 2001, 28:184-187
16. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA: A serine/ threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998, 391:184-187
17. Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP: Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat Genet 2002, 30:227-232
18. Slupska MM, Baikalov C, Luther WM, Chiang JH, Wei YF, Miller JH: Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage. J Bacteriol 1996, 178:3885-3892
19. Slupska MM, Luther WM, Chiang JH, Yang H, Miller JH: Functional expression of hMYH, a human homolog of the Escherichia coli MutY protein. J Bacteriol 1999, 181:6210-6213
20. Roldan-Arjona T, Wei YF, Carter KC, Klungland A, Anselmino C, Wang RP, Augustus M, Lindahl T: Molecular cloning and functional expression of a human cDNA encoding the antimutator enzyme 8-hydroxygianine-DNA glycosylase Proc Natl Acad Sci USA 1997, 94: 8016-8020
21. Sakumi K, Furuichi M, Tsuzuki T, Kakuma T, Kawabata S, Maki H, Sekiguchi M: Cloning and expression of cDNA for a human enzyme that hydrolyzes 8-oxo-dGTP, a mutagenic substrate for DNA-synthesis. J Biol Chem 1993, 268:23524-23530
22. Jones S, Emmerson P, Maynard J, Best J, Jordan S, Williams G, Sampson J, Cheadle J: Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations. Hum Mol Genet 2002, 11:2961-2967
23. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RKS, Bisgaard M-L, Orntoft TF, Aaltonen LA, Hodgson SV, Huw DM, Thomas JW, Tomlinson PM: The multiple colorectal adenoma phenotype, familial adenomatous polyposis and germline mutations in. MYH. N Engl J Med 2003, 348:791-799
24. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomäki P, Chadwick RB, Percesepe A, Kääriäinen H, Ahtola H, Eskelinen M, Härkönen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, Järvinen H, Mecklin J-P, de la Chapelle A: Incidence of hereditary nonpolyposis colorectal cancer, and molecular screening for the disease. N Engl J Med 1998, 338:1481-1487
25. Salovaara R, Loukola A, Kristo P, Kääriäinen H, Ahtola H, Eskelinen M, Härkönen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, Järvinen H, Mecklin J-P, Aaltonen LA, de la Chapelle A: Population-wide molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000, 18:2193-2200
26. Syvänen A-C, Sajantila A, Lukka M: Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing. Am J Hum Genet 1993, 42:46-59
27. Suomalainen A, Syvänen A-C: Quantitative analysis of human DNA sequences by PCR and solid-phase minisequencing. Mol Biotechnol 2000, 15:123-131
28. Moisio A-L, Järvinen H, Peltomäki P: Genetic and clinical characterization of familial adenomatous polyposis: a population based study. Gut 2000, 50:845-850
29. Marra G, Jiricny J: Multiple colorectal adenomas - is their number up? N Engl J Med 2003, 348:845-847
30. Zhou X-P, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Järvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin J-P, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IPM, Eng C: Germline mutation in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet 2001, 69:704-711
31. Mecklin J-P, Järvinen HJ: Treatment and follow-up strategies in hereditary nonpolyposis colorectal carcinoma. Dis Colon Rectum 1993, 36:927-929