Accumulation profile of frameshift mutations during development and progression of colorectal cancer from patients with hereditary nonpolyposis colorectal cancer

Diseases of the Colon and Rectum

Volumn 49, Issue 3, 2006, Pages 399-406

  Yamaguchi, Tatsuro ^a   Iijima, Takeru ^a   Mori, Takeo ^a   Takahashi, Keiichi ^a   Matsumoto, Hiroshi ^a   Miyamoto, Hidenori ^a   Hishima, Tsunekazu ^a   Miyaki, Michiko ^a  

^a TOKYO METROPOLITAN KOMAGOME HOSPITAL   (Japan)

Author keywords

Colorectal carcinogenesis; Frameshift mutation; Hereditary nonpolyposis colorectal cancer

Indexed keywords

CASPASE 5; MARCKS PROTEIN; PARATHYROID HORMONE RELATED PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN BAX; PROTEIN MSH3; RAD50 PROTEIN; RETINOBLASTOMA PROTEIN; SOMATOMEDIN B RECEPTOR; T CELL FACTOR PROTEIN; T CELL FACTOR PROTEIN 4; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; UNCLASSIFIED DRUG;

ADULT; ADVANCED CANCER; AGED; ARTICLE; CANCER GROWTH; CANCER STAGING; CLINICAL ARTICLE; CLINICAL FEATURE; COLON CARCINOGENESIS; COLORECTAL CANCER; EARLY CANCER; FEMALE; FRAMESHIFT MUTATION; GENE DISRUPTION; GENE INACTIVATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MUTATION RATE;

ADENOCARCINOMA; ADENOCARCINOMA, MUCINOUS; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MIDDLE AGED; NEOPLASM PROTEINS;

EID: 33644972891     PISSN: 00123706     EISSN: 15300358     Source Type: Journal    
DOI: 10.1007/s10350-005-0293-4     Document Type: Article

References (35)

1. HT Lynch TC Smyrk P Watson 1993 Genetic, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review Gastroenterology 104 1535 1549
2. LA Aaltonen R Salovaara P Kristo 1998 Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease N Engl J Med 338 1481 1487
3. R Fishel MK Lescoe MR Rao 1993 The human mutator gene homolog MSH2 and its association with hereditarynonpolyposis colorectal cancer Cell 75 1027 1038
4. CE Bronner SM Baker PT Morrison 1994 Mutation in the DNA mismatch repair gene homolog hMLH1 is associated with hereditary nonpolyposis colorectal cancer Nature 368 258 261
5. M Miyaki M Konishi K Tanaka 1997 Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer Nat Genet 17 271 272
6. M Konishi R Kikuchi-Yanoshita K Tanaka 1996 Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer Gastroenterology 111 307 317
7. Y Mori J Yin A Rashid 2001 Instabilotyping: comprehensive identification of frameshift mutations caused by coding region microsatellite instability Cancer Res 61 6046 6049
8. H Rajagopalam A Bardelli C Lengauer KW Kinzler B Vogelstein VE Velculescu 2002 RAF/RAAS oncogenes and mismatch-repair status Nature 418 934
9. M Miyaki T Iijima T Yamaguchi T Kadofuku N Funata T Mori 2004 Both BRAF and KRAS mutations are rare in colorectal carcinomas from patients with hereditary nonpolyposis colorectal cancer Cancer Lett 211 105 109
10. T Kambara LA Simms VL Whitehall 2004 BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum Gut 53 1137 1144
11. M Miyaki M Konishi M Muraoka 1995 Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening diagnosis of HNPCC patients J Mol Med 73 515 520
12. S Markowitz J Wang L Myeroff 1995 Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability Science 268 1336 1338
13. RF Souza R Appel J Yin 1996 Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumors Nat Genet 14 255 257
14. N Rampino H Yamamoto Y Ionov 1997 Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype Science 275 967 969
15. S Malkhosyan N Rampino H Yamamoto M Perucho 1996 Frameshift mutator mutations Nature 382 499 500
16. S Schwartz Jr H Yamamoto M Navarro M Maestro J Reventos M Perucho 1999 Frameshift mutations at mononucleotide repeats in caspase-5 and other target genes in endometrial and gastrointestinal cancer of the microsatellite mutator phenotype Cancer Res 59 2995 3002
17. A Duval J Gayet XP Zhou B Iacopetta G Thomas R Hamelin 1999 Frequent frameshift mutations of the TCF-4 gene in colorectal cancers with microsatellite instability Cancer Res 59 4213 4215
18. A Riccio LA Aaltonen AK Godwin 1999 The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability Nat Genet 23 266 268
19. G Guanti N Resta C Simone 2000 Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis Hum Mol Genet 9 283 287
20. C Wicking LA Simms T Evans 1998 CDX2, a human homolog of Drosophila caudal, is mutated in both alleles in a replication error positive colorectal cancer Oncogene 17 657 659
21. RB Chadwick GL Jiang GA Bennington 2000 Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis Proc Natl Acad Sci USA 97 2662 2667
22. G Calin V Herlea G Barbanti-Brodano M Negrini 1998 The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors Cancer Res 58 3777 3781
23. NG Kim YR Choi MJ Baek 2001 Frameshift mutations at coding mononucleotide repeats of the hRAD50 gene in gastrointestinal carcinomas with microsatellite instability Cancer Res 61 36 38
24. NG Kim H Rhee LS Li 2002 Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with microsatellite instability Oncogene 21 5081 5087
25. SM Woerner A Benner C Sutter 2003 Pathogenesis of DNA repair-deficient cancers: a statistical meta-analysis of putative real common target genes Oncogene 22 2226 2235
26. L Thorstensen CB Diep GI Meling 2001 WNT1 inducible signaling pathway protein 3, WISP-3, a novel target gene in colorectal carcinomas with microsatellite instability Gastroenterology 121 1275 1280
27. W Liu X Dong M Mai 2000 Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating β-catenin/TCF signaling Nat Genet 26 146 147
28. K Eppert SW Scherer H Ozcelik 1996 MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma Cell 86 543 552
29. G Lagna A Hata A Hemmati-Brivanlou J Massague 1996 Partnership between DPC4 and SMAD proteins in TGF-beta signaling pathways Nature 383 832 836
30. E Deacu Y Mori F Sato 2004 Activin type II receptor restoration in ACVR2-deficient colon cancer cells induces transforming growth factor-beta response pathway genes Cancer Res 64 7690 7696
31. M Miyaki T Iijima J Kimura 1999 Frequent mutation of β-catenin and APC genes in primary colorectal tumors from patients with hereditary nonpolyposis colorectal cancer Cancer Res 59 4506 4509
32. S Biswas A Chytil K Washington 2004 Transforming growth factor β receptor type II inactivation promotes the establishment and progression of colon cancer Cancer Res 64 4687 4692
33. WM Grady A Rajput L Myeroff 1998 Mutation of the type II transforming growth factor-β receptor is coincident with the transformation of human colon adenomas to malignant carcinomas Cancer Res 58 3101 3104
34. T Miyashita JC Reed 1995 Tumor suppressor p53 is a direct transcriptional activator of the human BAX gene Cell 80 293 299
35. R Kikuchi-Yanoshita M Konishi S Ito 1992 Genetic changes of both p53 alleles associated with the conversion from colorectal adenoma to early carcinoma in familial adenomatous polyposis and non-familial adenomatous polyposis patients Cancer Res 52 3965 3971