Genetic variations in colorectal cancer risk and clinical outcome

World Journal of Gastroenterology

Volumn 20, Issue 15, 2014, Pages 4167-4177

  Zhang, Kejin ^a,b   Civan, Jesse ^c   Mukherjee, Sushmita ^a   Patel, Fenil ^a   Yang, Hushan ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b NORTHWEST UNIVERSITY   (China)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Cell cycle control; Colorectal cancer; Gene desert; Genome instability; Genome wide association study; Signal transduction pathways; Single nucleotide polymorphism

Indexed keywords

ACTIVATING TRANSCRIPTION FACTOR 1; BETA CATENIN; BONE MORPHOGENETIC PROTEIN 2; BONE MORPHOGENETIC PROTEIN 4; CYCLIN D2; DNA DIRECTED DNA POLYMERASE; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INITIATION FACTOR 3; LAMININ GAMMA1; MITOGEN ACTIVATED PROTEIN KINASE; MYOSIN III; NUCLEIC ACID BINDING PROTEIN; OCTAMER TRANSCRIPTION FACTOR 4; ORGANIC CATION TRANSPORTER 3; PHOSPHOLIPASE C BETA1; PROTEIN P53; RHO GUANINE NUCLEOTIDE BINDING PROTEIN; SMAD7 PROTEIN; TRANSFORMING GROWTH FACTOR BETA; UVOMORULIN; WNT PROTEIN;

ARTICLE; CANCER RISK; CELL CYCLE REGULATION; COLORECTAL CANCER; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOMIC INSTABILITY; HUMAN; META ANALYSIS (TOPIC); OUTCOME ASSESSMENT; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; CELL CYCLE; COLORECTAL NEOPLASMS; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; PROGNOSIS; RISK FACTOR; TREATMENT OUTCOME;

CELL CYCLE; COLORECTAL NEOPLASMS; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; RISK FACTORS; SIGNAL TRANSDUCTION; TREATMENT OUTCOME;

EID: 84898841629     PISSN: 10079327     EISSN: 22192840     Source Type: Journal    
DOI: 10.3748/wjg.v20.i15.4167     Document Type: Article

References (73)

1. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K. 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 [PMID: 10891514 DOI: 10.1056/NEJM200007133430201]
2. Gala M, Chung DC. Hereditary colon cancer syndromes. Semin Oncol 2011; 38: 490-499 [PMID: 21810508 DOI: 10.1053/j.seminoncol.2011.05.003]
3. Rex DK, Johnson DA, Anderson JC, Schoenfeld PS, Burke CA, Inadomi JM. American College of Gastroenterology guidelines for colorectal cancer screening 2009 [corrected]. Am J Gastroenterol 2009; 104: 739-750 [PMID: 19240699 DOI: 10.1038/ajg.2009.104]
4. Tomlinson I, Webb E, Carvajal-Carmona L, Broderick P, Kemp Z, Spain S, Penegar S, Chandler I, Gorman M, Wood W, Barclay E, Lubbe S, Martin L, Sellick G, Jaeger E, Hubner R, Wild R, Rowan A, Fielding S, Howarth K, Silver A, Atkin W, Muir K, Logan R, Kerr D, Johnstone E, Sieber O, Gray R, Thomas H, Peto J, Cazier JB, Houlston R. A genomewide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 2007; 39: 984-988 [PMID: 17618284]
5. Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, Lubbe S, Spain S, Sullivan K, Fielding S, Jaeger E, Vijayakrishnan J, Kemp Z, Gorman M, Chandler I, Papaemmanuil E, Penegar S, Wood W, Sellick G, Qureshi M, Teixeira A, Domingo E, Barclay E, Martin L, Sieber O, Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet 2007; 39: 1315-1317 [PMID: 17934461]
6. Tenesa A, Farrington SM, Prendergast JG, Porteous ME, Walker M, Haq N, Barnetson RA, Theodoratou E, Cetnarskyj R, Cartwright N, Semple C, Clark AJ, Reid FJ, Smith LA, Kavoussanakis K, Koessler T, Pharoah PD, Buch S, Schafmayer C, Tepel J, Schreiber S, Völzke H, Schmidt CO, Hampe J, Chang-Claude J, Hoffmeister M, Brenner H, Wilkening S, Canzian F, Capella G, Moreno V, Deary IJ, Starr JM, Tomlinson IP, Kemp Z, Howarth K, Carvajal-Carmona L, Webb E, Broderick P, Vijayakrishnan J, Houlston RS, Rennert G, Ballinger D, Rozek L, Gruber SB, Matsuda K, Kidokoro T, Nakamura Y, Zanke BW, Greenwood CM, Rangrej J, Kustra R, Montpetit A, Hudson TJ, Gallinger S, Campbell H, Dunlop MG. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet 2008; 40: 631-637 [PMID: 18372901]
7. Jaeger E, Webb E, Howarth K, Carvajal-Carmona L, Rowan A, Broderick P, Walther A, Spain S, Pittman A, Kemp Z, Sullivan K, Heinimann K, Lubbe S, Domingo E, Barclay E, Martin L, Gorman M, Chandler I, Vijayakrishnan J, Wood W, Papaemmanuil E, Penegar S, Qureshi M, Farrington S, Tenesa A, Cazier JB, Kerr D, Gray R, Peto J, Dunlop M, Campbell H, Thomas H, Houlston R, Tomlinson I. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet 2008; 40: 26-28 [PMID: 18084292]
8. Tomlinson IP, Webb E, Carvajal-Carmona L, Broderick P, Howarth K, Pittman AM, Spain S, Lubbe S, Walther A, Sullivan K, Jaeger E, Fielding S, Rowan A, Vijayakrishnan J, Domingo E, Chandler I, Kemp Z, Qureshi M, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Penegar S, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop DT, Gray R, Maher ER, Lucassen A, Kerr D, Evans DG, Schafmayer C, Buch S, Völzke H, Hampe J, Schreiber S, John U, Koessler T, Pharoah P, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A, Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen L, Cazier JB, Campbell H, Dunlop MG, Houlston RS. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 2008; 40: 623-630 [PMID: 18372905]
9. Houlston RS, Cheadle J, Dobbins SE, Tenesa A, Jones AM, Howarth K, Spain SL, Broderick P, Domingo E, Farrington S, Prendergast JG, Pittman AM, Theodoratou E, Smith CG, Olver B, Walther A, Barnetson RA, Churchman M, Jaeger EE, Penegar S, Barclay E, Martin L, Gorman M, Mager R, Johnstone E, Midgley R, Niittymäki I, Tuupanen S, Colley J, Idziaszczyk S, Thomas HJ, Lucassen AM, Evans DG, Maher ER, Maughan T, Dimas A, Dermitzakis E, Cazier JB, Aaltonen LA, Pharoah P, Kerr DJ, Carvajal-Carmona LG, Campbell H, Dunlop MG, Tomlinson IP. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet 2010; 42: 973-977 [PMID: 20972440]
10. Peters U, Jiao S, Schumacher FR, Hutter CM, Aragaki AK, Baron JA, Berndt SI, Bézieau S, Brenner H, Butterbach K, Caan BJ, Campbell PT, Carlson CS, Casey G, Chan AT, Chang-Claude J, Chanock SJ, Chen LS, Coetzee GA, Coetzee SG, Conti DV, Curtis KR, Duggan D, Edwards T, Fuchs CS, Gallinger S, Giovannucci EL, Gogarten SM, Gruber SB, Haile RW, Harrison TA, Hayes RB, Henderson BE, Hoffmeister M, Hopper JL, Hudson TJ, Hunter DJ, Jackson RD, Jee SH, Jenkins MA, Jia WH, Kolonel LN, Kooperberg C, Küry S, Lacroix AZ, Laurie CC, Laurie CA, Le Marchand L, Lemire M, Levine D, Lindor NM, Liu Y, Ma J, Makar KW, Matsuo K, Newcomb PA, Potter JD, Prentice RL, Qu C, Rohan T, Rosse SA, Schoen RE, Seminara D, Shrubsole M, Shu XO, Slattery ML, Taverna D, Thibodeau SN, Ulrich CM, White E, Xiang Y, Zanke BW, Zeng YX, Zhang B, Zheng W, Hsu L. Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. Gastroenterology 2013; 144: 799-807. e24 [PMID: 23266556 DOI: 10.1053/j.gastro.2012.12.020]
11. Lascorz J, Försti A, Chen B, Buch S, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Schulmann K, Goecke T, Kloor M, Engel C, Büttner R, Kunkel N, Weires M, Hoffmeister M, Pardini B, Naccarati A, Vodickova L, Novotny J, Schreiber S, Krawczak M, Bröring CD, Völzke H, Schafmayer C, Vodicka P, Chang-Claude J, Brenner H, Burwinkel B, Propping P, Hampe J, Hemminki K. Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility. Carcinogenesis 2010; 31: 1612-1619 [PMID: 20610541]
12. Kerr D. Clinical development of gene therapy for colorectal cancer. Nat Rev Cancer 2003; 3: 615-622 [PMID: 12894249]
13. Guo X, Wang XF. Signaling cross-talk between TGF-beta/ BMP and other pathways. Cell Res 2009; 19: 71-88 [PMID: 19002158]
14. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990; 61: 759-767 [PMID: 2188735 DOI: 10.1016/0092-8674(90)90186-I]
15. Clevers H, Nusse R. Wnt/β-catenin signaling and disease. Cell 2012; 149: 1192-1205 [PMID: 22682243 DOI: 10.1016/ j.cell.2012.05.012]
16. Thorstensen L, Lind GE, Løvig T, Diep CB, Meling GI, Rognum TO, Lothe RA. Genetic and epigenetic changes of components affecting the WNT pathway in colorectal carcinomas stratified by microsatellite instability. Neoplasia 2005; 7: 99-108 [PMID: 15802015 DOI: 10.1593/neo.04448]
17. Han G, Li AG, Liang YY, Owens P, He W, Lu S, Yoshimatsu Y, Wang D, Ten Dijke P, Lin X, Wang XJ. Smad7-induced beta-catenin degradation alters epidermal appendage development. Dev Cell 2006; 11: 301-312 [PMID: 16950122 DOI: 10.1016/j.devcel.2006.06.014]
18. Levy L, Hill CS. Alterations in components of the TGF-beta superfamily signaling pathways in human cancer. Cytokine Growth Factor Rev 2006; 17: 41-58 [PMID: 16310402]
19. Cui R, Okada Y, Jang SG, Ku JL, Park JG, Kamatani Y, Hosono N, Tsunoda T, Kumar V, Tanikawa C, Kamatani N, Yamada R, Kubo M, Nakamura Y, Matsuda K. Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population. Gut 2011; 60: 799-805 [PMID: 21242260]
20. Houlston RS, Webb E, Broderick P, Pittman AM, Di Bernardo MC, Lubbe S, Chandler I, Vijayakrishnan J, Sullivan K, Penegar S, Carvajal-Carmona L, Howarth K, Jaeger E, Spain SL, Walther A, Barclay E, Martin L, Gorman M, Domingo E, Teixeira AS, Kerr D, Cazier JB, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Tomlinson IP, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Cetnarskyj R, Porteous ME, Pharoah PD, Koessler T, Hampe J, Buch S, Schafmayer C, Tepel J, Schreiber S, Völzke H, Chang-Claude J, Hoffmeister M, Brenner H, Zanke BW, Montpetit A, Hudson TJ, Gallinger S, Campbell H, Dunlop MG. Meta-analysis of genomewide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 2008; 40: 1426-1435 [PMID: 19011631]
21. Tomlinson IP, Carvajal-Carmona LG, Dobbins SE, Tenesa A, Jones AM, Howarth K, Palles C, Broderick P, Jaeger EE, Farrington S, Lewis A, Prendergast JG, Pittman AM, Theodoratou E, Olver B, Walker M, Penegar S, Barclay E, Whiffin N, Martin L, Ballereau S, Lloyd A, Gorman M, Lubbe S, Howie B, Marchini J, Ruiz-Ponte C, Fernandez-Rozadilla C, Castells A, Carracedo A, Castellvi-Bel S, Duggan D, Conti D, Cazier JB, Campbell H, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Gallinger S, Newcomb P, Hopper J, Jenkins MA, Aaltonen LA, Kerr DJ, Cheadle J, Pharoah P, Casey G, Houlston RS, Dunlop MG. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genet 2011; 7: e1002105 [PMID: 21655089]
22. Pino MS, Chung DC. The chromosomal instability pathway in colon cancer. Gastroenterology 2010; 138: 2059-2072 [PMID: 20420946 DOI: 10.1053/j.gastro.2009.12.065]
23. Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP. BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. Science 2002; 297: 1837-1848 [PMID: 12228710 DOI: 10.1126/science.297.5588.1837]
24. Bochkarev A, Bochkareva E, Frappier L, Edwards AM. The crystal structure of the complex of replication protein A subunits RPA32 and RPA14 reveals a mechanism for singlestranded DNA binding. EMBO J 1999; 18: 4498-4504 [PMID: 10449415 DOI: 10.1093/emboj/18.16.4498]
25. Wold MS. Replication protein A: a heterotrimeric, singlestranded DNA-binding protein required for eukaryotic DNA metabolism. Annu Rev Biochem 1997; 66: 61-92 [PMID: 9242902 DOI: 10.1146/annurev.biochem.66.1.61]
26. Dunlop MG, Dobbins SE, Farrington SM, Jones AM, Palles C, Whiffin N, Tenesa A, Spain S, Broderick P, Ooi LY, Domingo E, Smillie C, Henrion M, Frampton M, Martin L, Grimes G, Gorman M, Semple C, Ma YP, Barclay E, Prendergast J, Cazier JB, Olver B, Penegar S, Lubbe S, Chander I, Carvajal-Carmona LG, Ballereau S, Lloyd A, Vijayakrishnan J, Zgaga L, Rudan I, Theodoratou E, Starr JM, Deary I, Kirac I, Kovacević D, Aaltonen LA, Renkonen-Sinisalo L, Mecklin JP, Matsuda K, Nakamura Y, Okada Y, Gallinger S, Duggan DJ, Conti D, Newcomb P, Hopper J, Jenkins MA, Schumacher F, Casey G, Easton D, Shah M, Pharoah P, Lindblom A, Liu T, Smith CG, West H, Cheadle JP, Midgley R, Kerr DJ, Campbell H, Tomlinson IP, Houlston RS. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat Genet 2012; 44: 770-776 [PMID: 22634755]
27. Ogino S, Kawasaki T, Kirkner GJ, Ogawa A, Dorfman I, Loda M, Fuchs CS. Down-regulation of p21 (CDKN1A/ CIP1) is inversely associated with microsatellite instability and CpG island methylator phenotype (CIMP) in colorectal cancer. J Pathol 2006; 210: 147-154 [PMID: 16850502 DOI: 10.1002/path.2030]
28. Wangefjord S, Brändstedt J, Lindquist KE, Nodin B, Jirström K, Eberhard J. Associations of beta-catenin alterations and MSI screening status with expression of key cell cycle regulating proteins and survival from colorectal cancer. Diagn Pathol 2013; 8: 10 [PMID: 23337059 DOI: 10.1186/1746-1596-8-10]
29. Jia WH, Zhang B, Matsuo K, Shin A, Xiang YB, Jee SH, Kim DH, Ren Z, Cai Q, Long J, Shi J, Wen W, Yang G, Delahanty RJ, Ji BT, Pan ZZ, Matsuda F, Gao YT, Oh JH, Ahn YO, Park EJ, Li HL, Park JW, Jo J, Jeong JY, Hosono S, Casey G, Peters U, Shu XO, Zeng YX, Zheng W. Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. Nat Genet 2013; 45: 191-196 [PMID: 23263487 DOI: 10.1038/ng.2505]
30. Liu DX, Lobie PE. Transcriptional activation of p53 by Pitx1. Cell Death Differ 2007; 14: 1893-1907 [PMID: 17762884 DOI: 10.1038/sj.cdd.4402209]
31. Qi DL, Ohhira T, Fujisaki C, Inoue T, Ohta T, Osaki M, Ohshiro E, Seko T, Aoki S, Oshimura M, Kugoh H. Identification of PITX1 as a TERT suppressor gene located on human chromosome 5. Mol Cell Biol 2011; 31: 1624-1636 [PMID: 21300782 DOI: 10.1128/MCB.00470-10]
32. Musgrove EA, Caldon CE, Barraclough J, Stone A, Sutherland RL. Cyclin D as a therapeutic target in cancer. Nat Rev Cancer 2011; 11: 558-572 [PMID: 21734724 DOI: 10.1038/ nrc3090]
33. Barrett JC, Lee JC, Lees CW, Prescott NJ, Anderson CA, Phillips A, Wesley E, Parnell K, Zhang H, Drummond H, Nimmo ER, Massey D, Blaszczyk K, Elliott T, Cotterill L, Dallal H, Lobo AJ, Mowat C, Sanderson JD, Jewell DP, Newman WG, Edwards C, Ahmad T, Mansfield JC, Satsangi J, Parkes M, Mathew CG, Donnelly P, Peltonen L, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Craddock N, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew CG, McCarthy MI, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Samani N, Trembath RC, Viswanathan AC, Wood N, Spencer CC, Barrett JC, Bellenguez C, Davison D, Freeman C, Strange A, Donnelly P, Langford C, Hunt SE, Edkins S, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Perez ML, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, Deloukas P, Peltonen L, Mathew CG, Blackwell JM, Brown MA, Corvin A, McCarthy MI, Spencer CC, Attwood AP, Stephens J, Sambrook J, Ouwehand WH, McArdle WL, Ring SM, Strachan DP. Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet 2009; 41: 1330-1334 [PMID: 19915572]
34. Turck N, Gross I, Gendry P, Stutzmann J, Freund JN, Kedinger M, Simon-Assmann P, Launay JF. Laminin isoforms: biological roles and effects on the intracellular distribution of nuclear proteins in intestinal epithelial cells. Exp Cell Res 2005; 303: 494-503 [PMID: 15652360 DOI: 10.1016/j.yexcr.2004.10.025]
35. Pouliot N, Saunders NA, Kaur P. Laminin 10/11: an alternative adhesive ligand for epidermal keratinocytes with a functional role in promoting proliferation and migration. Exp Dermatol 2002; 11: 387-397 [PMID: 12366691]
36. Farber MJ, Rizaldy R, Hildebrand JD. Shroom2 regulates contractility to control endothelial morphogenesis. Mol Biol Cell 2011; 22: 795-805 [PMID: 21248203 DOI: 10.1091/mbc. E10-06-0505]
37. Forbes SA, Bindal N, Bamford S, Cole C, Kok CY, Beare D, Jia M, Shepherd R, Leung K, Menzies A, Teague JW, Campbell PJ, Stratton MR, Futreal PA. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res 2011; 39: D945-D950 [PMID: 20952405 DOI: 10.1093/nar/gkq929]
38. Kraus C, Liehr T, Hülsken J, Behrens J, Birchmeier W, Grzeschik KH, Ballhausen WG. Localization of the human beta-catenin gene (CTNNB1) to 3p21: a region implicated in tumor development. Genomics 1994; 23: 272-274 [PMID: 7829088 DOI: 10.1006/geno.1994.1493]
39. Yang L, Chen Y, Cui T, Knösel T, Zhang Q, Geier C, Katenkamp D, Petersen I. Identification of biomarkers to distinguish clear cell sarcoma from malignant melanoma. Hum Pathol 2012; 43: 1463-1470 [PMID: 22406360 DOI: 10.1016/ j.humpath.2011.10.022]
40. Lin WL, Chen FL, Kuo JF, Lee MY, Han CP. Cytokeratin 8/18 monoclonal antibody was dissimilar to anti-cytokeratin CAM 5.2.--a comment on: "Discovery of two novel EWSR1/ATF1 transcripts in four chimerical transcriptsexpressing clear cell sarcoma and their quantitative evaluation, Experimental and Molecular Pathology 90(2): 194-200, April 2011". Exp Mol Pathol 2011; 91: 323-324 [PMID: 21510931 DOI: 10.1016/j.yexmp.2011.04.001]
41. Zheng D, Cho YY, Lau AT, Zhang J, Ma WY, Bode AM, Dong Z. Cyclin-dependent kinase 3-mediated activating transcription factor 1 phosphorylation enhances cell transformation. Cancer Res 2008; 68: 7650-7660 [PMID: 18794154 DOI: 10.1158/0008-5472.CAN-08-1137]
42. Zanke BW, Greenwood CM, Rangrej J, Kustra R, Tenesa A, Farrington SM, Prendergast J, Olschwang S, Chiang T, Crowdy E, Ferretti V, Laflamme P, Sundararajan S, Roumy S, Olivier JF, Robidoux F, Sladek R, Montpetit A, Campbell P, Bezieau S, O'Shea AM, Zogopoulos G, Cotterchio M, Newcomb P, McLaughlin J, Younghusband B, Green R, Green J, Porteous ME, Campbell H, Blanche H, Sahbatou M, Tubacher E, Bonaiti-Pellié C, Buecher B, Riboli E, Kury S, Chanock SJ, Potter J, Thomas G, Gallinger S, Hudson TJ, Dunlop MG. Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet 2007; 39: 989-994 [PMID: 17618283]
43. Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, Maranian M, Seal S, Ghoussaini M, Hines S, Healey CS, Hughes D, Warren-Perry M, Tapper W, Eccles D, Evans DG, Hooning M, Schutte M, van den Ouweland A, Houlston R, Ross G, Langford C, Pharoah PD, Stratton MR, Dunning AM, Rahman N, Easton DF. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet 2010; 42: 504-507 [PMID: 20453838 DOI: 10.1038/ ng.586]
44. Gudmundsson J, Sulem P, Manolescu A, Amundadottir LT, Gudbjartsson D, Helgason A, Rafnar T, Bergthorsson JT, Agnarsson BA, Baker A, Sigurdsson A, Benediktsdottir KR, Jakobsdottir M, Xu J, Blondal T, Kostic J, Sun J, Ghosh S, Stacey SN, Mouy M, Saemundsdottir J, Backman VM, Kristjansson K, Tres A, Partin AW, Albers-Akkers MT, Godino-Ivan Marcos J, Walsh PC, Swinkels DW, Navarrete S, Isaacs SD, Aben KK, Graif T, Cashy J, Ruiz-Echarri M, Wiley KE, Suarez BK, Witjes JA, Frigge M, Ober C, Jonsson E, Einarsson GV, Mayordomo JI, Kiemeney LA, Isaacs WB, Catalona WJ, Barkardottir RB, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet 2007; 39: 631-637 [PMID: 17401366 DOI: 10.1038/ ng1999]
45. Kiemeney LA, Thorlacius S, Sulem P, Geller F, Aben KK, Stacey SN, Gudmundsson J, Jakobsdottir M, Bergthorsson JT, Sigurdsson A, Blondal T, Witjes JA, Vermeulen SH, Hulsbergen-van de Kaa CA, Swinkels DW, Ploeg M, Cornel EB, Vergunst H, Thorgeirsson TE, Gudbjartsson D, Gudjonsson SA, Thorleifsson G, Kristinsson KT, Mouy M, Snorradottir S, Placidi D, Campagna M, Arici C, Koppova K, Gurzau E, Rudnai P, Kellen E, Polidoro S, Guarrera S, Sacerdote C, Sanchez M, Saez B, Valdivia G, Ryk C, de Verdier P, Lindblom A, Golka K, Bishop DT, Knowles MA, Nikulasson S, Petursdottir V, Jonsson E, Geirsson G, Kristjansson B, Mayordomo JI, Steineck G, Porru S, Buntinx F, Zeegers MP, Fletcher T, Kumar R, Matullo G, Vineis P, Kiltie AE, Gulcher JR, Thorsteinsdottir U, Kong A, Rafnar T, Stefansson K. Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet 2008; 40: 1307-1312 [PMID: 18794855]
46. Poynter JN, Figueiredo JC, Conti DV, Kennedy K, Gallinger S, Siegmund KD, Casey G, Thibodeau SN, Jenkins MA, Hopper JL, Byrnes GB, Baron JA, Goode EL, Tiirikainen M, Lindor N, Grove J, Newcomb P, Jass J, Young J, Potter JD, Haile RW, Duggan DJ, Le Marchand L. Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: results from the Colon Cancer Family Registry. Cancer Res 2007; 67: 11128-11132 [PMID: 18056436]
47. Park SL, Chang SC, Cai L, Cordon-Cardo C, Ding BG, Greenland S, Hussain SK, Jiang Q, Liu S, Lu ML, Mao JT, Morgenstern H, Mu LN, Ng LJ, Pantuck A, Rao J, Reuter VE, Tashkin DP, You NC, Yu CQ, Yu SZ, Zhao JK, Belldegrun A, Zhang ZF. Associations between variants of the 8q24 chromosome and nine smoking-related cancer sites. Cancer Epidemiol Biomarkers Prev 2008; 17: 3193-3202 [PMID: 18990762 DOI: 10.1158/1055-9965.EPI-08-0523]
48. Varghese JS, Easton DF. Genome-wide association studies in common cancers--what have we learnt? Curr Opin Genet Dev 2010; 20: 201-209 [PMID: 20418093]
49. Al Olama AA, Kote-Jarai Z, Giles GG, Guy M, Morrison J, Severi G, Leongamornlert DA, Tymrakiewicz M, Jhavar S, Saunders E, Hopper JL, Southey MC, Muir KR, English DR, Dearnaley DP, Ardern-Jones AT, Hall AL, O'Brien LT, Wilkinson RA, Sawyer E, Lophatananon A, Horwich A, Huddart RA, Khoo VS, Parker CC, Woodhouse CJ, Thompson A, Christmas T, Ogden C, Cooper C, Donovan JL, Hamdy FC, Neal DE, Eeles RA, Easton DF. Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat Genet 2009; 41: 1058-1060 [PMID: 19767752 DOI: 10.1038/ng.452]
50. Wasserman NF, Aneas I, Nobrega MA. An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer. Genome Res 2010; 20: 1191-1197 [PMID: 20627891]
51. Pomerantz MM, Beckwith CA, Regan MM, Wyman SK, Petrovics G, Chen Y, Hawksworth DJ, Schumacher FR, Mucci L, Penney KL, Stampfer MJ, Chan JA, Ardlie KG, Fritz BR, Parkin RK, Lin DW, Dyke M, Herman P, Lee S, Oh WK, Kantoff PW, Tewari M, McLeod DG, Srivastava S, Freedman ML. Evaluation of the 8q24 prostate cancer risk locus and MYC expression. Cancer Res 2009; 69: 5568-5574 [PMID: 19549893]
52. Ling H, Spizzo R, Atlasi Y, Nicoloso M, Shimizu M, Redis RS, Nishida N, Gafà R, Song J, Guo Z, Ivan C, Barbarotto E, De Vries I, Zhang X, Ferracin M, Churchman M, van Galen JF, Beverloo BH, Shariati M, Haderk F, Estecio MR, Garcia-Manero G, Patijn GA, Gotley DC, Bhardwaj V, Shureiqi I, Sen S, Multani AS, Welsh J, Yamamoto K, Taniguchi I, Song MA, Gallinger S, Casey G, Thibodeau SN, Le Marchand L, Tiirikainen M, Mani SA, Zhang W, Davuluri RV, Mimori K, Mori M, Sieuwerts AM, Martens JW, Tomlinson I, Negrini M, Berindan-Neagoe I, Foekens JA, Hamilton SR, Lanza G, Kopetz S, Fodde R, Calin GA. CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer. Genome Res 2013; 23: 1446-1461 [PMID: 23796952 DOI: 10.1101/gr.152942.112]
53. Panagopoulos I, Möller E, Collin A, Mertens F. The POU5F1P1 pseudogene encodes a putative protein similar to POU5F1 isoform 1. Oncol Rep 2008; 20: 1029-1033 [PMID: 18949397]
54. Vaiopoulos AG, Kostakis ID, Koutsilieris M, Papavassiliou AG. Colorectal cancer stem cells. Stem Cells 2012; 30: 363-371 [PMID: 22232074 DOI: 10.1002/stem.1031]
55. Phipps AI, Newcomb PA, Garcia-Albeniz X, Hutter CM, White E, Fuchs CS, Hazra A, Ogino S, Nan H, Ma J, Campbell PT, Figueiredo JC, Peters U, Chan AT. Association between colorectal cancer susceptibility loci and survival time after diagnosis with colorectal cancer. Gastroenterology 2012; 143: 51-54. e4 [PMID: 22580541]
56. Dai J, Gu J, Huang M, Eng C, Kopetz ES, Ellis LM, Hawk E, Wu X. GWAS-identified colorectal cancer susceptibility loci associated with clinical outcomes. Carcinogenesis 2012; 33: 1327-1331 [PMID: 22505654 DOI: 10.1093/carcin/bgs147]
57. Xing J, Myers RE, He X, Qu F, Zhou F, Ma X, Hyslop T, Bao G, Wan S, Yang H, Chen Z. GWAS-identified colorectal cancer susceptibility locus associates with disease prognosis. Eur J Cancer 2011; 47: 1699-1707 [PMID: 21402474]
58. Zaitlen N, Paşaniuc B, Gur T, Ziv E, Halperin E. Leveraging genetic variability across populations for the identification of causal variants. Am J Hum Genet 2010; 86: 23-33 [PMID: 20085711 DOI: 10.1016/j.ajhg.2009.11.016]
59. Wacholder S, Hartge P, Prentice R, Garcia-Closas M, Feigelson HS, Diver WR, Thun MJ, Cox DG, Hankinson SE, Kraft P, Rosner B, Berg CD, Brinton LA, Lissowska J, Sherman ME, Chlebowski R, Kooperberg C, Jackson RD, Buckman DW, Hui P, Pfeiffer R, Jacobs KB, Thomas GD, Hoover RN, Gail MH, Chanock SJ, Hunter DJ. Performance of common genetic variants in breast-cancer risk models. N Engl J Med 2010; 362: 986-993 [PMID: 20237344 DOI: 10.1056/NEJMoa0907727]
60. Park JH, Wacholder S, Gail MH, Peters U, Jacobs KB, Chanock SJ, Chatterjee N. Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat Genet 2010; 42: 570-575 [PMID: 20562874 DOI: 10.1038/ng.610]
61. Visscher PM, Brown MA, McCarthy MI, Yang J. Five years of GWAS discovery. Am J Hum Genet 2012; 90: 7-24 [PMID: 22243964 DOI: 10.1016/j.ajhg.2011.11.029]
62. Zuk O, Hechter E, Sunyaev SR, Lander ES. The mystery of missing heritability: Genetic interactions create phantom heritability. Proc Natl Acad Sci USA 2012; 109: 1193-1198 [PMID: 22223662 DOI: 10.1073/pnas.1119675109]
63. Stacey SN, Sulem P, Jonasdottir A, Masson G, Gudmundsson J, Gudbjartsson DF, Magnusson OT, Gudjonsson SA, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Nexø BA, Tjønneland A, Overvad K, Rudnai P, Gurzau E, Koppova K, Hemminki K, Corredera C, Fuentelsaz V, Grasa P, Navarrete S, Fuertes F, García-Prats MD, Sanambrosio E, Panadero A, De Juan A, Garcia A, Rivera F, Planelles D, Soriano V, Requena C, Aben KK, van Rossum MM, Cremers RG, van Oort IM, van Spronsen DJ, Schalken JA, Peters WH, Helfand BT, Donovan JL, Hamdy FC, Badescu D, Codreanu O, Jinga M, Csiki IE, Constantinescu V, Badea P, Mates IN, Dinu DE, Constantin A, Mates D, Kristjansdottir S, Agnarsson BA, Jonsson E, Barkardottir RB, Einarsson GV, Sigurdsson F, Moller PH, Stefansson T, Valdimarsson T, Johannsson OT, Sigurdsson H, Jonsson T, Jonasson JG, Tryggvadottir L, Rice T, Hansen HM, Xiao Y, Lachance DH, O Neill BP, Kosel ML, Decker PA, Thorleifsson G, Johannsdottir H, Helgadottir HT, Sigurdsson A, Steinthorsdottir V, Lindblom A, Sandler RS, Keku TO, Banasik K, Jørgensen T, Witte DR, Hansen T, Pedersen O, Jinga V, Neal DE, Catalona WJ, Wrensch M, Wiencke J, Jenkins RB, Nagore E, Vogel U, Kiemeney LA, Kumar R, Mayordomo JI, Olafsson JH, Kong A, Thorsteinsdottir U, Rafnar T, Stefansson K. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. Nat Genet 2011; 43: 1098-1103 [PMID: 21946351]
64. Negandhi AA, Hyde A, Dicks E, Pollett W, Younghusband BH, Parfrey P, Green RC, Savas S. MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer patients: analysis of two independent cohorts from Newfoundland. PLoS One 2013; 8: e61469 [PMID: 23626689]
65. Passarelli MN, Phipps AI, Potter JD, Makar KW, Coghill AE, Wernli KJ, White E, Chan AT, Hutter CM, Peters U, Newcomb PA. Common single-nucleotide polymorphisms in the estrogen receptor β promoter are associated with colorectal cancer survival in postmenopausal women. Cancer Res 2013; 73: 767-775 [PMID: 23149914]
66. Benhaim L, Gerger A, Bohanes P, Paez D, Wakatsuki T, Yang D, Labonte MJ, Ning Y, El-Khoueiry R, Loupakis F, Zhang W, Laurent-Puig P, Lenz HJ. Gender-specific profiling in SCN1A polymorphisms and time-to-recurrence in patients with stage II/III colorectal cancer treated with adjuvant 5-fluoruracil chemotherapy. Pharmacogenomics J 2014; 14: 135-141 [PMID: 23752739]
67. Lin M, Gu J, Eng C, Ellis LM, Hildebrandt MA, Lin J, Huang M, Calin GA, Wang D, Dubois RN, Hawk ET, Wu X. Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. Clin Cancer Res 2012; 18: 3982-3991 [PMID: 22661538]
68. Xing J, Wan S, Zhou F, Qu F, Li B, Myers RE, Fu X, Palazzo JP, He X, Chen Z, Yang H. Genetic polymorphisms in premicroRNA genes as prognostic markers of colorectal cancer. Cancer Epidemiol Biomarkers Prev 2012; 21: 217-227 [PMID: 22028396]
69. Zhou F, He X, Liu H, Zhu Y, Jin T, Chen C, Qu F, Li Y, Bao G, Chen Z, Xing J. Functional polymorphisms of circadian positive feedback regulation genes and clinical outcome of Chinese patients with resected colorectal cancer. Cancer 2012; 118: 937-946 [PMID: 21773969]
70. Lin M, Eng C, Hawk ET, Huang M, Lin J, Gu J, Ellis LM, Wu X. Identification of polymorphisms in ultraconserved elements associated with clinical outcomes in locally advanced colorectal adenocarcinoma. Cancer 2012; 118: 6188-6198 [PMID: 22673945]
71. Kjaer-Frifeldt S, Fredslund R, Lindebjerg J, Hansen TF, Spindler KL, Jakobsen A. Prognostic importance of VEGF-A haplotype combinations in a stage II colon cancer population. Pharmacogenomics 2012; 13: 763-770 [PMID: 22594508]
72. Dong G, Guo X, Fu X, Wan S, Zhou F, Myers RE, Bao G, Burkart A, Yang H, Xing J. Potentially functional genetic variants in KDR gene as prognostic markers in patients with resected colorectal cancer. Cancer Sci 2012; 103: 561-568 [PMID: 22182247]
73. Gerger A, Zhang W, Yang D, Bohanes P, Ning Y, Winder T, LaBonte MJ, Wilson PM, Benhaim L, Paez D, El-Khoueiry R, El-Khoueiry A, Kahn M, Lenz HJ. Common cancer stem cell gene variants predict colon cancer recurrence. Clin Cancer Res 2011; 17: 6934-6943 [PMID: 21918173]