Epigenetic signatures of familial cancer are characteristic of tumor type and family category

Cancer Research

Volumn 68, Issue 12, 2008, Pages 4597-4605

  Joensuu, Emmi I ^a   Abdel Rahman, Wael M ^a   Ollikainen, Miina ^a   Ruosaari, Salla ^a,b,c   Knuutila, Sakari ^a   Peltomäki, Päivi ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FINNISH INSTITUTE OF OCCUPATIONAL HEALTH   (Finland)

^c HELSINKI INSTITUTE FOR INFORMATION TECHNOLOGY   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTATHIONE TRANSFERASE P1; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1A; TISSUE INHIBITOR OF METALLOPROTEINASE 3; DNA; MESSENGER RNA; MICROSATELLITE DNA; MLH1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR PROTEIN;

ADULT; AGED; APC GENE; ARTICLE; CDH13 GENE; CHFR GENE; COLORECTAL CARCINOMA; CONTROLLED STUDY; CPG ISLAND; DNA METHYLATION; ENDOMETRIUM CARCINOMA; EPIGENETICS; ESR1 GENE; FAMILIAL CANCER; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; RARB GENE; TUMOR SUPPRESSOR GENE; ADENOCARCINOMA; CLASSIFICATION; COLON; COLORECTAL TUMOR; COMPARATIVE STUDY; DNA PROBE; ENDOMETRIUM; ENDOMETRIUM TUMOR; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETIC EPIGENESIS; GENETICS; METABOLISM; MIDDLE AGED; PATHOLOGY; POLYMERASE CHAIN REACTION; PROGNOSIS; PROMOTER REGION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOCARCINOMA; AGED; COLON; COLORECTAL NEOPLASMS; CPG ISLANDS; DNA METHYLATION; DNA PROBES; DNA, NEOPLASM; ENDOMETRIAL NEOPLASMS; ENDOMETRIUM; EPIGENESIS, GENETIC; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, NEOPLASTIC; GENES, TUMOR SUPPRESSOR; HUMANS; MICROSATELLITE REPEATS; MIDDLE AGED; NEOPLASM PROTEINS; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; PROGNOSIS; PROMOTER REGIONS (GENETICS); RNA, MESSENGER;

EID: 49649100284     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-07-6645     Document Type: Article

References (50)

1. Sjoblom T, Jones S, Wood LD, et al. The consensus codingse quences of human breast and colorectal cancers. Science 2006;314:268-74.
2. Feinberg AP, Ohlsson R, Henikoff S. The epigenetic progenitor origin of human cancer. Nat Rev Genet 2006;7:21-33.
3. Widschwendter M, Fiegl H, Egle D, et al. Epigenetic stem cell signature in cancer. Nat Genet 2007;39:157-8.
4. Verma M, Srivastava S. Epigenetics in cancer: implications for early detection and prevention. Lancet Oncol 2002;3:755-63.
5. Veigl ML, Kasturi L, Olechnowicz J, et al. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc Natl Acad Sci U S A 1998;95:8698-702.
6. Esteller M, Levine R, Baylin SB, Ellenson LH, Herman JG. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Oncogene 1998;17:2413-7.
7. Toyota M, Ahuja N, Ohe-Toyota M, Herman JG, Baylin SB, Issa JP. CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci U S A 1999;96:8681-6.
8. Costello JF, Fruhwald MC, Smiraglia DJ, et al. Aberrant CpG-island methylation has non-random and tumour-type-specific patterns. Nat Genet 2000;24:132-8.
9. Sato N, Maitra A, Fukushima N, et al. Frequent hypomethylation of multiple genes overexpressed in pancreatic ductal adenocarcinoma. Cancer Res 2003;63:4158-66.
10. Eden A, Gaudet F, Waghmare A, Jaenisch R. Chromosomal instability and tumors promoted by DNA hypomethylation. Science 2003;300:455.
11. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 2003;21:1174-9.
12. Renkonen E, Zhang Y, Lohi H, et al. Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol 2003;21:3629-37.
13. Ollikainen M, Abdel-Rahman WM, Moisio AL, et al. Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? J Clin Oncol 2005;23:4609-16.
14. Frazier ML, Xi L, Zong J, et al. Association of the CpG island methylator phenotype with family history of cancer in patients with colorectal cancer. Cancer Res 2003;63:4805-8.
15. Suter CM, Martin DI, Ward RL. Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 2004;36:497-501.
16. Hitchins MP, Wong JJ, Suthers G, et al. Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med 2007;356:697-705.
17. Chan TL, Yuen ST, Kong CK, et al. Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nat Genet 2006;38:1178-83.
18. Nygren AO, Ameziane N, Duarte HM, et al. Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res 2005;33:e128.
19. Mecklin JP, Jarvinen HJ, Aukee S, Elomaa I, Karjalainen K. Screening for colorectal carcinoma in cancer family syndrome kindreds. Scand J Gastroenterol 1987;22:449-53.
20. Holmberg M, Kristo P, Chadwicks RB, et al. Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer. Hum Mutat 1998;11:482-3.
21. Isola J, DeVries S, Chu L, Ghazvini S, Waldman F. Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples. Am J Pathol 1994;145:1301-8.
22. Schweizer P, Moisio AL, Kuismanen SA, et al. Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer. Cancer Res 2001;61:2813-5.
23. Abdel-Rahman WM, Ollikainen M, Kariola R, et al. Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations. Oncogene 2005;24:1542-51.
24. Worsham MJ, Chen KM, Meduri V, et al. Epigenetic events of disease progression in head and neck squamous cell carcinoma. Arch Otolaryngol Head Neck Surg 2006; 132:668-77.
25. Gylling A, Abdel-Rahman WM, Juhola M, et al. Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study. Gut 2007;56:926-33.
26. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci U S A 1996;93:9821-6.
27. Kim YH, Petko Z, Dzieciatkowski S, et al. CpG island methylation of genes accumulates during the adenoma progression step of the multistep pathogenesis of colorectal cancer. Genes Chromosomes Cancer 2006;45:781-9.
28. Burbee DG, Forgacs E, Zochbauer-Muller S, et al. Epigenetic inactivation of RASSF1A in lung and breast cancers and malignant phenotype suppression. J Natl Cancer Inst 2001;93:691-9.
29. Esteller M, Sparks A, Toyota M, et al. Analysis of adenomatous polyposis coli promoter hypermethylation in human cancer. Cancer Res 2000;60:4366-71.
30. Irizarry RA, Bolstad BM, Collin F, Cope LM, Hobbs B, Speed TP. Summaries of Affymetrix GeneChip probe level data. Nucleic Acids Res 2003;31:e15.
31. Castanotto D, Tommasi S, Li M, et al. Short hairpin RNA-directed cytosine (CpG) methylation of the RASSF1A gene promoter in HeLa cells. Mol Ther 2005;12:179-83.
32. 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.
33. Laird PW. The power and the promise of DNA methylation markers. Nat Rev Cancer 2003;3:253-66.
34. Rashid A, Issa JP. CpG island methylation in gastroenterologic neoplasia: a maturing field. Gastroenterology 2004;127:1578-88.
35. Ollikainen M, Gylling A, Puputti M, et al. Patterns of PIK3CA alterations in familial colorectal and endometrial carcinoma. Int J Cancer 2007;121:915-20.
36. Wynter CV, Kambara T, Walsh MD, Leggett BA, Young J, Jass JR. DNA methylation patterns in adenomas from FAP, multiple adenoma and sporadic colorectal carcinoma patients. Int J Cancer 2006;118:907-15.
37. 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.
38. Samowitz WS, Albertsen H, Herrick J, et al. Evaluation of a large, population-based sample supports a CpG island methylator phenotype in colon cancer. Gastroenterology 2005;129:837-45.
39. Chirieac LR, Shen L, Catalano PJ, Issa JP, Hamilton SR. Phenotype of microsatellite-stable colorectal carcinomas with CpG island methylation. Am J Surg Pathol 2005;29:429-36.
40. Goel A, Nagasaka T, Arnold CN, et al. The CpG island methylator phenotype and chromosomal instability are inversely correlated in sporadic colorectal cancer. Gastroenterology 2007;132:127-38.
41. Ollikainen M, Hannelius U, Lindgren CM, Abdel-Rahman WM, Kere J, Peltomaki P. Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach. Oncogene 2007;26:4541-9.
42. Smiraglia DJ, Rush LJ, Fruhwald MC, et al. Excessive CpG island hypermethylation in cancer cell lines versus primary human malignancies. Hum Mol Genet 2001;10:1413-9.
43. Young J, Barker MA, Simms LA, et al. Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer. Clin Gastroenterol Hepatol 2005;3:254-63.
44. Ricciardiello L, Goel A, Mantovani V, et al. Frequent loss of hMLH1 by promoter hypermethylation leads to microsatellite instability in adenomatous polyps of patients with a single first-degree member affected by colon cancer. Cancer Res 2003;63:787-92.
45. Gazzoli I, Loda M, Garber J, Syngal S, Kolodner RD. A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer Res 2002;62:3925-8.
46. Valle L, Carbonell P, Fernandez V, et al. MLH1 germline epimutations in selected patients with early-onset nonpolyposis colorectal cancer. Clin Genet 2007;71:232-7.
47. Miremadi A, Oestergaard MZ, Pharoah PD, Caldas C. Cancer genetics of epigenetic genes. Hum Mol Genet 2007;16:R28-49.
48. Sanchez-de-Abajo A, de la Hoya M, van Puijenbroek M, et al. Molecular analysis of colorectal cancer tumors from patients with mismatch repair proficient hereditary nonpolyposis colorectal cancer suggests novel carcinogenic pathways. Clin Cancer Res 2007;13:5729-35.
49. Bettstetter M, Dechant S, Ruemmele P, et al. Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR. Clin Cancer Res 2007;13:3221-8.
50. Esteller M, Catasus L, Matias-Guiu X, et al. hMLH1 promoter hypermethylation is an early event in human endometrial tumorigenesis. Am J Pathol 1999;155:1767-72.