The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease

Gut

Volumn 59, Issue 10, 2010, Pages 1369-1377

  Woods, M O ^a   Younghusband, H B ^a   Parfrey, P S ^a   Gallinger, S ^b   McLaughlin, J ^c   Dicks, E ^a   Stuckless, S ^a   Pollett, A ^d   Bapat, B ^d   Mrkonjic, M ^d   De La Chapelle, A ^e   Clendenning, M ^e   Thibodeau, S N ^f   Simms, M ^a   Dohey, A ^a   Williams, P ^a   Robb, D ^a   Searle, C ^a   Green, J S ^a   Green, R C ^a  

^a MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c CANCER CARE ONTARIO   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e OHIO STATE UNIVERSITY   (United States)

^f MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; INTERMEDIN 1; INTERMEDIN 6; INTERMEDIN DERIVATIVE; MISMATCH REPAIR PROTEIN; PROTEIN MLH1; UNCLASSIFIED DRUG; BRAF PROTEIN, HUMAN; DNA; MLH1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR PROTEIN;

ADULT; ALLELE; ARTICLE; CANCER INCIDENCE; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; DNA DETERMINATION; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PMS2 GENE; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN METHYLATION; TUMOR SUPPRESSOR GENE; AGE DISTRIBUTION; AGED; CANADA; COLORECTAL NEOPLASMS; DNA METHYLATION; FOUNDER EFFECT; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MISMATCH REPAIR; MUTATION; PROMOTER REGION; REGISTER;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGE DISTRIBUTION; AGED; COLORECTAL NEOPLASMS; DNA METHYLATION; DNA MISMATCH REPAIR; DNA, NEOPLASM; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION; NEOPLASM PROTEINS; NEWFOUNDLAND AND LABRADOR; NUCLEAR PROTEINS; PROMOTER REGIONS, GENETIC; PROTO-ONCOGENE PROTEINS B-RAF; REGISTRIES;

EID: 77957201274     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gut.2010.208462     Document Type: Article

References (53)

1. Lichtenstein P, Holm NV, Verkasalo PK, et al. 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.
2. Aaltonen L, Johns L, Jarvinen H, et al. Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin Cancer Res 2007;13:356-61.
3. Lindor NM. Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disorders. Best Pract Res Clin Gastroenterol 2009;23:75-87.
4. Lynch HT, Lynch JF, Lynch PM, et al. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Fam Cancer 2008;7:27-39.
5. Gazzoli I, Loda M, Garber J, et al. 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 instabilityhigh tumour. Cancer Res 2002;62:3925-8.
6. Jass JR. Classification of colorectal cancer based on correlation of clinical, morphological and molecular features. Histopathology 2007;50:113-30.
7. Peltomaki P. Lynch syndrome genes. Fam Cancer 2005;4:227-32.
8. 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.
9. 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.
10. Newcomb PA, Baron J, Cotterchio M, et al. Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev 2007;16:2331-43.
11. Cotterchio M, McKeown-Eyssen G, Sutherland H, et al. Ontario familial colon cancer registry: methods and first-year response rates. Chronic Dis Can 2000;21:81-6.
12. Green RC, Green JS, Buehler SK, et al. Very high incidence of familial colorectal cancer in Newfoundland: a comparison with Ontario and 13 other population-based studies. Fam Cancer 2007;6:53-62.
13. Vasen HF, Mecklin JP, Khan PM, et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-5.
14. Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999;116:1453-6.
15. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-8.
16. Woods MO, Hyde AJ, Curtis FK, et al. High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes. Clin Cancer Res 2005;11:6853-61.
17. 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.
18. Loughrey MB, Waring PM, Tan A, et al. Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer 2007;6:301-10.
19. Clendenning M, Hampel H, LaJeunesse J, et al. Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat 2006;27:490-5.
20. Clendenning M, Senter L, Hampel H, et al. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. J Med Genet 2008;45:340-5.
21. Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
22. Cleary SP, Cotterchio M, Jenkins MA, et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 2009;136:1251-60.
23. Spirio L, Green J, Robertson J, et al. The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect. Hum Genet 1999;105:388-98.
24. Hochberg Y, Tamhane AC. Multiple comparison procedures. New York, NY: John Wiley and Sons, 1987.
25. Newcombe RG. Two-sided confidence intervals for the single proportion: comparison of seven methods. Stat Med 1998;17:857-72.
26. Woods MO, Williams P, Careen A, et al. A new variant database for mismatch repair genes associated with Lynch syndrome. Hum Mutat 2007;28:669-73.
27. Hutter P, Rey-Berthod C, Chappuis PO, et al. Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis. Hum Mutat 2001;18:550.
28. Croitoru ME, Cleary SP, Di Nicola N, et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst 2004;96:1631-4.
29. Steinke V, Rahner N, Morak M, et al. No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. Eur J Hum Genet 2008;16:587-92.
30. Rahman P, Jones A, Curtis J, et al. The Newfoundland population: a unique resource for genetic investigation of complex diseases. Hum Mol Genet 2003;12 Spec No 2:R167-72.
31. Service S, DeYoung J, Karayiorgou M, et al. Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet 2006;38:556-60.
32. Jang JH, Cotterchio M, Gallinger S, et al. Family history of hormonal cancers and colorectal cancer risk: a case-control study conducted in Ontario. Int J Cancer 2009;125:918-25.
33. Kastrinos F, Allen JI, Stockwell DH, et al. Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol 2009;104:1508-18.
34. Stuckless S, Parfrey PS, Woods MO, et al. The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome. Fam Cancer 2007;6:1-12.
35. Desai DC, Lockman JC, Chadwick RB, et al. Recurrent germline mutation in MSH2 arises frequently de novo. J Med Genet 2000;37:646-52.
36. Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008;26:5783-8.
37. Farrington SM, Tenesa A, Barnetson R, et al. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet 2005;77: 112-19.
38. Ligtenberg MJ, Kuiper RP, Chan TL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet 2009;41:112-17.
39. 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.
40. de Jong MM, Nolte IM, te Meerman GJ, et al. Low-penetrance genes and their involvement in colorectal cancer susceptibility. Cancer Epidemiol Biomarkers Prev 2002;11:1332-52.
41. Neklason DW, Kerber RA, Nilson DB, et al. Common familial colorectal cancer linked to chromosome 7q31: a genome-wide analysis. Cancer Res 2008;68:8993-7.
42. Tomlinson I, Webb E, Carvajal-Carmona L, et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 2007;39:984-8.
43. Poynter JN, Figueiredo JC, Conti DV, et al. Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: results from the Colon Cancer Family Registry. Cancer Res 2007;67:11128-32.
44. Houlston RS, Webb E, Broderick P, et al. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 2008;40:1426-35.
45. Tomlinson I, Halford S, Aaltonen L, et al. Does MSI-low exist? J Pathol 2002; 197:6-13.
46. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005; 352:1851-60.
47. Graham T, Halford S, Page KM, et al. Most low-level microsatellite instability in colorectal cancers can be explained without an elevated slippage rate. J Pathol 2008;215:204-10.
48. Pedroni M, Roncari B, Maffei S, et al. A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. Dis Markers 2007;23:179-87.
49. Laghi L, Bianchi P, Malesci A. Differences and evolution of the methods for the assessment of microsatellite instability. Oncogene 2008;27:6313-21.
50. Sinn DH, Chang DK, Kim YH, et al. Effectiveness of each Bethesda marker in defining microsatellite instability when screening for Lynch syndrome. Hepatogastroenterology 2009;56:672-6.
51. Overbeek LI, Ligtenberg MJ, Willems RW, et al. Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized setting. Am J Surg Pathol 2008;32:1246-51.
52. Chapusot C, Martin L, Puig PL, 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.
53. Poulsen ML, Bisgaard ML. MUTYH associated polyposis (MAP). Curr Genomics 2008;9:420-35.