Copy number variations are progressively associated with the pathogenesis of colorectal cancer in ulcerative colitis

World Journal of Gastroenterology

Volumn 21, Issue 2, 2015, Pages 616-622

  Shivakumar, Bhadravathi Marigowda ^a,b   Rotti, Harish ^b   Vasudevan, Thanvanthri Gururajan ^b   Balakrishnan, Aswath ^b   Chakrabarty, Sanjiban ^b   Bhat, Ganesh ^a   Rao, Lakshmi ^a   Pai, Cannanore Ganesh ^a   Satyamoorthy, Kapaettu ^b  

^a KASTURBA MEDICAL COLLEGE   (India)

^b MANIPAL SCHOOL OF LIFE SCIENCES   (India)

Author keywords

Colorectal cancer; Copy number variations; Microsatellite instability; Molecular analysis; Ulcerative colitis

Indexed keywords

ADULT; ARTICLE; CANCER RISK; CHROMOSOME ANALYSIS; CHROMOSOME NUMBER; COLITIS ASSOCIATED COLORECTAL CANCER; COLORECTAL CANCER; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE DURATION; DNA HYBRIDIZATION; DNA MICROARRAY; FEMALE; GAIN OF FUNCTION MUTATION; GENE ONTOLOGY; GENOME SIZE; HUMAN; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MICROSATELLITE INSTABILITY; MIDDLE AGED; PATHOGENESIS; TUMOR GENE; ULCERATIVE COLITIS; BIOLOGY; CELL TRANSFORMATION; COLITIS, ULCERATIVE; COLORECTAL NEOPLASMS; GENE EXPRESSION PROFILING; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETICS; PHENOTYPE; PRECANCEROUS CONDITIONS; PROCEDURES; PROGNOSIS; RISK FACTOR;

TUMOR MARKER;

ADULT; BIOMARKERS, TUMOR; CELL TRANSFORMATION, NEOPLASTIC; COLITIS, ULCERATIVE; COLORECTAL NEOPLASMS; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; DISEASE PROGRESSION; DNA COPY NUMBER VARIATIONS; FEMALE; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PRECANCEROUS CONDITIONS; PROGNOSIS; RISK FACTORS;

EID: 84964694580     PISSN: 10079327     EISSN: 22192840     Source Type: Journal    
DOI: 10.3748/wjg.v21.i2.616     Document Type: Article

References (30)

1. Eaden JA, Abrams KR, Mayberry JF. The risk of colorectal cancer in ulcerative colitis: a meta-analysis. Gut 2001;48:526-535 [PMID: 11247898 DOI: 10.1136/gut.48.4.526]
2. Xie J, Itzkowitz SH. Cancer in inflammatory bowel disease. World J Gastroenterol 2008;14:378-389 [PMID: 18200660 DOI: 10.3748/wjg.14.378]
3. Jess T, Rungoe C, Peyrin-Biroulet L. Risk of colorectal cancer in patients with ulcerative colitis: a meta-analysis of populationbased cohort studies. Clin Gastroenterol Hepatol 2012;10:639-645 [PMID: 22289873 DOI: 10.1016/j.cgh.2012.01.010]
4. Farraye FA, Odze RD, Eaden J, Itzkowitz SH. AGA technical review on the diagnosis and management of colorectal neoplasia in inflammatory bowel disease. Gastroenterology 2010;138:746-774, 774.e1-e4; quiz e12-e13 [PMID: 20141809 DOI: 10.1053/j.gastro.2009.12.035]
5. Itzkowitz SH, Present DH. Consensus conference: Colorectal cancer screening and surveillance in inflammatory bowel disease. Inflamm Bowel Dis 2005;11:314-321 [PMID: 15735438 DOI: 10.1097/01. MIB.0000160811.76729.d5]
6. Ooi CJ, Fock KM, Makharia GK, Goh KL, Ling KL, Hilmi I, Lim WC, Kelvin T, Gibson PR, Gearry RB, Ouyang Q, Sollano J, Manatsathit S, Rerknimitr R, Wei SC, Leung WK, de Silva HJ, Leong RW. The Asia-Pacific consensus on ulcerative colitis. J Gastroenterol Hepatol 2010;25:453-468 [PMID: 20370724 DOI: 10.1111/j.1440-1746.2010.06241.x]
7. Kim BJ, Yang SK, Kim JS, Jeen YT, Choi H, Han DS, Kim HJ, Kim WH, Kim JY, Chang DK. Trends of ulcerative colitisassociated colorectal cancer in Korea: A KASID study. J Gastroenterol Hepatol 2009;24:667-671 [PMID: 19378391]
8. Kochhar R, Goenka MK, Kaushik SP, Gupta NM, Nagi B, Mehta SK. Colorectal carcinoma in Indian patients with idiopathic ulcerative colitis. Eur J Cancer Prev 1992;1:293-296 [PMID: 1467777]
9. Ray G. Inflammatory bowel disease in India-changing paradigms. Int J Colorectal Dis 2011;26:635-644 [PMID: 21063715 DOI: 10.1007/s00384-010-1084-5]
10. Venkataraman S, Mohan V, Ramakrishna BS, Peter S, Chacko A, Chandy G, Kurian G, Kurian S, Mathan M, Mathan VI, Patra S, Pulimood A, Rolston DD. Risk of colorectal cancer in ulcerative colitis in India. J Gastroenterol Hepatol 2005;20:705-709 [PMID: 15853982 DOI: 10.1111/j.1440-1746.2005.03810. x]
11. Gong W, Lv N, Wang B, Chen Y, Huang Y, Pan W, Jiang B. Risk of ulcerative colitis-associated colorectal cancer in China: a multi-center retrospective study. Dig Dis Sci 2012;57:503-507 [PMID: 21938485 DOI: 10.1007/s10620-011-1890-9]
12. Ramakrishna BS, Makharia GK, Abraham P, Ghoshal UC, Jayanthi V, Agarwal BK, Ahuja V, Bhasin DK, Bhatia SJ, Choudhuri G, Dadhich S, Desai DC, Dhali GK, Goswami BD, Issar SK, Jain AK, Kochhar R, Kumar A, Loganathan G, Misra SP, Pai CG, Pal S, Pulimood A, Puri AS, Ramesh GN, Ray G, Singh SP, Sood A, Tandan M. Indian Society of Gastroenterology consensus on ulcerative colitis. Indian J Gastroenterol 2012;31:307-323 [PMID: 23096266 DOI: 10.1007/s12664-012-0259-0]
13. Shivakumar BM, Lakshmankumar B, Rao L, Bhat G, Suvarna D, Pai CG. Colorectal neoplasia in long-standing ulcerative colitis - a prospective study from a low-prevalence area. Colorectal Dis 2013;15:e462-e468 [PMID: 23663532 DOI: 10.1111/codi.12276]
14. Itzkowitz SH. Molecular biology of dysplasia and cancer in inflammatory bowel disease. Gastroenterol Clin North Am 2006;35:553-571 [PMID: 16952740 DOI: 10.1016/j.gtc.2006.07.002]
15. Pancione M, Remo A, Colantuoni V. Genetic and epigenetic events generate multiple pathways in colorectal cancer progression. Patholog Res Int 2012;2012:509348 [PMID: 22888469]
16. Grady WM, Carethers JM. Genomic and epigenetic instability in colorectal cancer pathogenesis. Gastroenterology 2008;135:1079-1099 [PMID: 18773902 DOI: 10.1053/j.gastro.2008.07.076]
17. Lin CH, Lin JK, Chang SC, Chang YH, Chang HM, Liu JH, Li LH, Chen YT, Tsai SF, Chen WS. Molecular profile and copy number analysis of sporadic colorectal cancer in Taiwan. J Biomed Sci 2011;18:36 [PMID: 21645411 DOI: 10.1186/1423-0127-18-36]
18. Krepischi AC, Pearson PL, Rosenberg C. Germline copy number variations and cancer predisposition. Future Oncol 2012;8:441-450 [PMID: 22515447]
19. Kuiper RP, Ligtenberg MJ, Hoogerbrugge N, Geurts van Kessel A. Germline copy number variation and cancer risk. Curr Opin Genet Dev 2010;20:282-289 [PMID: 20381334 DOI: 10.1016/j.gde.2010.03.005]
20. Trautmann K, Terdiman JP, French AJ, Roydasgupta R, Sein N, Kakar S, Fridlyand J, Snijders AM, Albertson DG, Thibodeau SN, Waldman FM. Chromosomal instability in microsatellite-unstable and stable colon cancer. Clin Cancer Res 2006;12:6379-6385 [PMID: 17085649 DOI: 10.1158/1078-0432. CCR-06-1248]
21. Aust DE, Willenbucher RF, Terdiman JP, Ferrell LD, Chang CG, Moore DH, Molinaro-Clark A, Baretton GB, Loehrs U, Waldman FM. Chromosomal alterations in ulcerative colitisrelated and sporadic colorectal cancers by comparative genomic hybridization. Hum Pathol 2000;31:109-114 [PMID: 10665921]
22. Willenbucher RF, Aust DE, Chang CG, Zelman SJ, Ferrell LD, Moore DH, Waldman FM. Genomic instability is an early event during the progression pathway of ulcerativecolitis-related neoplasia. Am J Pathol 1999;154:1825-1830 [PMID: 10362807 DOI: 10.1016/S0002-9440 (10) 65438-7]
23. van Dieren JM, Wink JC, Vissers KJ, van Marion R, Hoogmans MM, Dinjens WN, Schouten WR, Tanke HJ, Szuhai K, Kuipers EJ, van der Woude CJ, van Dekken H. Chromosomal and microsatellite instability of adenocarcinomas and dysplastic lesions (DALM) in ulcerative colitis. Diagn Mol Pathol 2006;15:216-222 [PMID: 17122649 DOI: 10.1097/01. pdm.0000213470.92925.18]
24. Shlien A, Malkin D. Copy number variations and cancer. Genome Med 2009;1:62 [PMID: 19566914 DOI: 10.1186/gm62.]
25. Bernstein C, Bernstein H, Payne CM, Dvorak K, Garewal H. Field defects in progression to gastrointestinal tract cancers. Cancer Lett 2008;260:1-10 [PMID: 18164807 DOI: 10.1016/j.canlet.2007.11.027]
26. Shivakumar BM, Kumar BL, Bhat G, Suvarna D, Rao L, Pai CG, Satyamoorthy K. Molecular alterations in colitis-associated colorectal neoplasia: study from a low prevalence area using magnifying chromo colonoscopy. J Crohns Colitis 2012;6:647-654 [PMID: 22398042 DOI: 10.1016/j.crohns.2011.11.013]
27. Chakrabarty S, D'Souza RR, Bellampalli R, Rotti H, Saadi AV, Gopinath PM, Acharya RV, Govindaraj P, Thangaraj K, Satyamoorthy K. Comprehensive DNA copy number profile and BAC library construction of an Indian individual. Gene 2012;500:186-193 [PMID: 22465536 DOI: 10.1016/j.gene. 2012.03.054]
28. Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Armer M, Maller J, Mansfield J, Martin P, Massey DC, McArdle WL, McGuffin P, McLay KE, Mentzer A, Mimmack ML, Morgan AE, Morris AP, Mowat C, Myers S, Newman W, Nimmo ER, O'Donovan MC, Onipinla A, Onyiah I, Ovington NR, Owen MJ, Palin K, Parnell K, Pernet D, Perry JR, Phillips A, Pinto D, Prescott NJ, Prokopenko I, Quail MA, Rafelt S, Rayner NW, Redon R, Reid DM, Renwick SM, Robertson N, Russell E, St Clair D, Sambrook JG, Sanderson JD, Schuilenburg H, Scott CE, Scott R, Seal S, Shaw-Hawkins S, Shields BM, Simmonds MJ, Smyth DJ, Somaskantharajah E, Spanova K, Steer S, Stephens J, Stevens HE, Stone MA, Su Z, Symmons DP, Thompson JR, Thomson W, Travers ME, Turnbull C, Valsesia A, Walker M, Walker NM, Wallace C, Warren-Perry M, Watkins NA, Webster J, Weedon MN, Wilson AG, Woodburn M, Wordsworth BP, Young AH, Zeggini E, Carter NP, Frayling TM, Lee C, McVean G, Munroe PB, Palotie A, Sawcer SJ, Scherer SW, Strachan DP, Tyler-Smith C, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand W, Parkes M, Rahman N, Todd JA, Samani NJ, Donnelly P. Genome-wide association study of CNVs in 16, 000 cases of eight common diseases and 3, 000 shared controls. Nature 2010;464:713-720 [PMID: 20360734 DOI: 10.1038/nature08979]
29. Leedham SJ, Graham TA, Oukrif D, McDonald SA, Rodriguez-Justo M, Harrison RF, Shepherd NA, Novelli MR, Jankowski JA, Wright NA. Clonality, founder mutations, and field cancerization in human ulcerative colitis-associated neoplasia. Gastroenterology 2009;136:542-550.e6 [PMID: 19103203]
30. Boardman LA, Johnson RA, Petersen GM, Oberg AL, Kabat BF, Slusser JP, Wang L, Morlan BW, French AJ, Smyrk TC, Lindor NM, Thibodeau SN. Higher frequency of diploidy in young-onset microsatellite-stable colorectal cancer. Clin Cancer Res 2007;13:2323-2328 [PMID: 17438090 DOI: 10.1158/1078-0432. CCR-06-2739]