Clinical and molecular consequences of microsatellite instability in human cancers;Conséquences cliniques et moléculaires de l'instabilité des microsatellites dans les cancers humains

Bulletin du Cancer

Volumn 95, Issue 1, 2008, Pages 121-132

  Hamelin, Richard ^a,b   Chalastanis, Alexandra ^a,b   Colas, Chrystelle ^a,b   El Bchiri, Jamila ^a,b   Mercier, Dominique ^a,b   Schreurs, Ann Sofie ^a,b   Simon, Virginie ^a,b   Svrcek, Magali ^a,b,c   Zaanan, Aziz ^a,b   Borie, Claire ^a,b   Buhard, Olivier ^a,b   Capel, Emilie ^a,b,c   Zouali, Habib ^a,b,d   Praz, Françoise ^a,b   Muleris, Martine ^a,b   Fléjou, Jean François ^a,b,c   Duval, Alex ^a,b  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c HÔPITAL SAINT ANTOINE   (France)

^d FONDATION JEAN DAUSSET CEPH   (France)

Author keywords

Colorectal cancer; HNPCC; Microsatellite instability; MSI

Indexed keywords

DNA POLYMERASE;

CARCINOGENESIS; CELL TRANSFORMATION; COLORECTAL CANCER; ENDOMETRIUM CANCER; FAMILIAL CANCER; FRAMESHIFT MUTATION; GENE DELETION; GENE INACTIVATION; GENE INSERTION; HUMAN; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; NEOPLASM; NUCLEOTIDE REPEAT; PHENOTYPE; PROGNOSIS; REVIEW; STOMACH CANCER; BASE MISPAIRING; CHROMOSOMAL INSTABILITY; COLORECTAL TUMOR; CPG ISLAND; CRYOPRESERVATION; DNA METHYLATION; ENDOMETRIUM TUMOR; ENTERITIS; FEMALE; GENETICS; METHODOLOGY; MUTATION; RNA STABILITY; STOMACH TUMOR; TISSUE FIXATION;

BASE PAIR MISMATCH; CHROMOSOMAL INSTABILITY; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CPG ISLANDS; CRYOPRESERVATION; DNA METHYLATION; DNA MISMATCH REPAIR; ENDOMETRIAL NEOPLASMS; FEMALE; HUMANS; INFLAMMATORY BOWEL DISEASES; MICROSATELLITE INSTABILITY; MUTATION; NEOPLASMS; PHENOTYPE; PROGNOSIS; RNA STABILITY; STOMACH NEOPLASMS; TISSUE FIXATION;

EID: 39149109659     PISSN: 00074551     EISSN: 17696917     Source Type: Journal    
DOI: 10.1684/bdc.2008.0571     Document Type: Review

References (65)

1. Ionov Y, Peinado M, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993 ; 363 : 558-61.
2. Aaltonen LA, Peltomäki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993 ; 260 : 812-6.
3. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993 ; 260 : 816-9.
4. Boland CR, Thibodeau SN, Hamilton SR, et al. 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 1998 ; 58 : 5248-57.
5. Jacob S, Praz F. DNA mismatch repair defects : role in colorectal carcinogenesis. Biochimie 2002 ; 84 : 27-47.
6. Kane MF, Loda M, Gaida GM, et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 1997 ; 57 : 808-11.
7. Deng G, Chen A, Hong J, Chae HS, Kim YS. Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. Cancer Res 1999 ; 59 : 2029-33.
8. Capel E, Flejou JF, Hamelin R. Assessment of MLH1 promoter methylation in relation to gene expression requires specific analysis. Oncogene 2007 ; 29 : 7596-600.
9. Perucho M, Boland CR. 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 1998 ; 58 : 5248-57 ; (1999 ; 59 : 249-56).
10. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda guidelines for hereditary non-polyposis colorectal cancer and microsatellite instability. J Natl Cancer Inst 2004 ; 96 : 261-8.
11. Suraweera N, Duval A, Reperant M, et al. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 2002 ; 123 : 1804-11.
12. Buhard O, Cattaneo F, Wong YF, et al. Multi-population analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors. J Clin Oncol 2006 ; 24 : 241-51.
13. Wong YF, Cheung TH, Kit Lo KW, et al. Detection of microsatellite instability in endometrial cancer : advantages of a panel of five mononucleoyide repeats over the National Cancer Institute panel of markers. Carcinogenesis 2006 ; 27 : 951-5.
14. Jourdan F, Sebbagh N, Comperat E, et al. Tissue microarray technology : validation in colorectal carcinoma and analysis of p53, hMLH1 and hMSH2 immunohistochemical expression. Virschows Archiv 2003 ; 443 : 115-21.
15. Chapusot C, Martin L, Laurent-Puig P, et al. What is the best way to assess microsatellite instability status in colorectal cancer? Study on a population base of 462 colorectal cancers. Am J Surg Pathol 2004 ; 28 : 1553-9.
16. Lynch HT, Lynch JF. Lynch syndrome : history and current status. Dis Markers 2004 ; 20 : 181-98.
17. Olschwang S, Bonaïti C, Feingold J, et al. Identification et prise en charge du syndrome HNPCC (hereditary non polyposis colorectal cncer), prédisposition héréditaire aux cancers du côlon, du rectum et de l'utérus. Bull Cancer 2004 ; 91 : 303-15.
18. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 1999 ; 115 : 1453-6.
19. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1991 ; 34 : 424-5.
20. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer syndrome : meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997 ; 89 : 1758-62.
21. Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency : familial colorectal cancer type X. JAMA 2005 ; 293 : 1979-85.
22. Wang Q, Lasset C, Desseigne F, et al. Neurofibromatosis and early onset of cancers in MLH1-deficient children. Cancer Res 1999 ; 59 : 294-7.
23. Ricciardone MD, Ozcelik T, Cevher B, et al. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 1999 ; 59 : 290-3.
24. Felton KEA, Gilchrist DM, Andrew SE. Constitutive deficiency in DNA mismatch repair. Clin Genet 2007 ; 71 : 483-98.
25. Felton KEA, Gilchrist DM, Andrew SE. Constitutive deficiency in DNA mismatch repair : is it time for Lynch III? Clin Genet 2007 ; 71 : 499-500.
26. Jass JR, Do KA, Simms LA, et al. Morphology of sporadic cancer with DNA replication errors. Gut 1998 ; 42 : 673-9.
27. Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005 ; 23 : 609-18.
28. Ribic CM, Sargent DJ, Moore MJ, et al. Tumor microsatellite- instability status as a predictor of benefit from Fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003 ; 349 : 247-57.
29. Jacob S, Aguado M, Fallik D, Praz F. The role of the DNA mismatch repair system in the cytotoxicity of the topoisomerase inhibitors camptothecin and etoposide to human colorectal cancer cells. Cancer Res 2001 ; 61 : 6555-62.
30. Li HR, Shagisultanova EI, Yamashita K, Piao Z, Perucho M, Malkhosyan SR. Hypersensitivity of tumor cell lines with microsatellite instability to DNA double strand break producing chemotherapeutic agent bleomycin. Cancer Res 2004 ; 64 : 4700-7.
31. Fallik D, Borrini F, Boige V, et al. Microsatellite instability is a predictive factor of the tumor response to irinotecan in patients with advanced colorectal cancer. Cancer Res 2003 ; 63 : 5738-44.
32. Markowitz S, Wang J, Myeroff L, et al. Inactivarion of the type II TGFβ receptor in colon cancer cells with microsatellite instability. Science 1995 ; 268 : 1336-8.
33. Duval A, Hamelin R. Mutations at coding repeat sequences in mismatch repair deficient human cancers : toward a new concept of target genes for instability. Cancer Res 2002 ; 62 : 2447-54.
34. Duval A, Reperant M, Compoint A, et al. Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiency. Cancer Res 2002 ; 62 : 1609-12.
35. Duval A, Rolland S, Compoint A, et al. Evolution of instability at coding and non-coding repeat sequences in human MSI-H colorectal cancers. Hum Mol Genet 2001 ; 10 : 513-8.
36. Woerner SM, Benner A, Sutter C, et al. Pathogenesis of DNA repair-deficient cancers : a statistical meta-analysis of putative real common target genes. Oncogene 2003 ; 22 : 2226-35.
37. Hugo H, Cures A, Suraweera N, et al. Mutations in the MYB intron I regulatory sequence increase transcription in colon cnacers. Genes Chromosomes Cancer 2006 ; 45 : 1143-54.
38. Giannini G, Rinaldi C, Ristori E, et al. Mutations of an intronic repeat induce impaired MRE11 expression in primary human cancer with microsatellite instability. Oncogene 2004 ; 23 : 2640-7.
39. Suraweera N, Iacopetta B, Duval A, Compoint A, Tubacher E, Hamelin R. Conservation of mononucleotide repeats within 3′ and 5′ untranslated regions and their instability in MSI-H colorectal cancers. Oncogene 2001 ; 20 : 7472-7.
40. Linnebacher M, Gebert J, Rudy W, et al. Frameshift peptide derived T-cell epitopes : a source of novel tumor-specific antigens. Int J Cancer 2001 ; 93 : 6-11.
41. Baker KE, Parker R. Nonsense-mediated mRNA decay : terminating erroneous gene expression. Curr Opin Cell Biol 2004 ; 16 : 293-9.
42. El-Bichri J, Buhard O, Penard-Lacronique V, Thomas G, Hamelin R, Duval A. Differential nonsense mediated decay of mutated mRNAs in mismatch repair deficient colorectal cancers. Hum Mol Genet 2005 ; 14 : 2435-42.
43. Cottu PH, Muzeau F, Estreicher A, et al. Inverse correlation between RER + status and p53 mutation in colorectal cancer cell lines. Oncogene 1996 ; 13 : 2727-30.
44. Olschwang S, Hamelin R, Laurent-Puig P, et al. Alternative genetic pathways in colorectal carcinogenesis. Proc Natl Acad Sci USA 1997 ; 94 : 12122-7.
45. Oliveira C, Westra JL, Arango D, et al. Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and MLH1 methylation status. Hum Mol Genet 2004 ; 13 : 2303-11.
46. Oliveira C, Pinto M, Duval A, et al. BRAF mutations characterize colon but not gastric cancer with mismatch repair deficiency. Oncogene 2003 ; 22 : 9192-6.
47. Domingo E, Espin E, Armengol M, et al. Activated BRAf targets proximal colon tumors with mismatch repair deficiency and MLH1 inactivation. Genes Chromosomes Cancer 2004 ; 39 : 138-42.
48. Domingo E, Laiho P, Ollikainen M, et al. BRAF screening as a low-cost effective strategy for symplifying HNPCC genetic testing. J Med Genet 2004 ; 41 : 664-8.
49. Johnson V, Volikos E, Alford SE, et al. Exon 3 β-catenin mutations are specifically associated with colorectal carcinomas in HNPCC syndrome. Gut 2005 ; 54 : 264-7.
50. Georgiades IB, Curtis LJ, Morris RM, Bird CC, Wyllie AH. Heterogeneity studies identify a subset of sporadic colorectal cancers without evidence for chromosomal or microsatellite instability. Oncogene 1999 ; 18 : 7933-40.
51. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990 ; 61 : 759-67.
52. Toyota M, Ahuja N, Ohe-Toyota M, Herman JG, Baylin SB, Issa JPJ. CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci USA 1999 ; 96 : 8681-6.
53. Weisenberger DJ, Siegmund KD, Campan M, et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet 2006 ; 38 : 787-93.
54. Anacleto C, Leopoldino AM, Rossi B, et al. Colorectal cancer methylator phenotype : fact or artifact? Neoplasia 2005 ; 7 : 331-5.
55. Esteller M, Toyota M, Sanchez-Cespedes M, et al. Inactivation of the DNA repair gene 06-methylguanine-DNA methyltransferase by promoter hypermethylation is associated with G to A mutations in K-ras in colorectal tumorigenesis. Cancer Res 2000 ; 60 : 2368-71.
56. Mori Y, Selaru FM, Sato F, et al. The impact of microsatellite instability on the molecular phenotype of colorectal tumors. Cancer Res 2003 ; 63 : 4577-82.
57. Dunican DS, Mc William P, Tighe O, Parle-McDermott A, Croke DT. Gene expression differences between the microsatellite instability and chromosomal instability phenotypes in colorectal cancer revealed by high-density cDNA array hybridization. Oncogene 2002 ; 21 : 3253-7.
58. Svrcek M, El-Bchiri J, Chalastanis A, et al. Specific clinical and biological features charcterize inflammatory bowel disease associated colorectal cancers showing microsatellite instability. J Clin Oncol 2007 ; 25 : 4231-8.
59. Duval A, Raphael M, Brennetot C, et al. The mutator pathway is a feature of immunodeficiency-related lymphomas. Proc Natl Acad Sci USA 2004 ; 101 : 5002-7.
60. Casorelli I, Offman J, Mele L, et al. Drug treatment in the development of mismatch repair defective acute leukemia and myelodysplastic syndrome. DNA Repair (Amst) 2003 ; 2 : 547-59.
61. Elliott B, Jasin M. Repair of double strand breaks by homologous recombination in mismatch repair-defective mammalian cells. Mol Cell Biol 2001 ; 21 : 2671-82.
62. Miquel C, Jacobs, Grandjouan S, et al. Frequent alteration of DNA damage signalling and repair pathways in human colorectal cancers with microsatellite instability. Oncogene 2007 ; 26 : 5919-26.
63. Coindre JM, Sigaux F, Delsol G. Tumorothèques à visée sanitaire : définition, intérêts et recommandations. Bull Cancer 2006 ; 93 : S213-S220.
64. Morente MM, Mager R, Alonso S, et al. Tubafrost 2 : standardising tissue collection and quality control procedures for European virtual frozen tissue bank network. Eur J Cancer 2006 ; 42 : 2684-91.
65. André T, Louvet C, de Gramont A, le Gercor. Cancer du côlon : quoi de neuf en 2004? Bull Cancer 2004 ; 91 : 75-80.