A novel colorectal cancer risk locus at 4q32.2 identified from an international genomewide association study

Carcinogenesis

Volumn 35, Issue 11, 2014, Pages 2512-2519

  Schmit, Stephanie L ^a   Schumacher, Fredrick R ^a   Edlund, Christopher K ^a   Conti, David V ^a   Raskin, Leon ^b   Lejbkowicz, Flavio ^c,d   Pinchev, Mila ^c,d   Rennert, Hedy S ^c,d   Jenkins, Mark A ^e   Hopper, John L ^e   Buchanan, Daniel D ^f   Lindor, Noralane M ^g   Le Marchand, Loic ^h   Gallinger, Steven ⁱ   Haile, Robert W ^j   Newcomb, Polly A ^k   Huang, Shu Chen ^a   Rennert, Gad ^c,d,l   Casey, Graham ^a   Gruber, Stephen B ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^c CARMEL MEDICAL CENTER   (Israel)

^d CLALIT HEALTH SERVICES   (Israel)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g MAYO CLINIC   (United States)

^h UNIVERSITY OF HAWAII CANCER CENTER   (United States)

ⁱ MOUNT SINAI HOSPITAL   (Canada)

^j STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k USA   (United States)

^l TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ASHKENAZI JEW; CANCER RISK; CHROMOSOME 4Q; CHROMOSOME 4Q32.2; COLORECTAL CANCER; EUROPEAN; GENE FREQUENCY; GENE LOCUS; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMAN; META ANALYSIS; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; AGED; CARCINOGENESIS; CASE CONTROL STUDY; CHROMOSOME 4; COLORECTAL TUMOR; ETHNIC GROUP; FEMALE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MALE; MIDDLE AGED; PATHOLOGY; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY;

AGED; AGED, 80 AND OVER; CARCINOGENESIS; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 4; COLORECTAL NEOPLASMS; ETHNIC GROUPS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84965188220     PISSN: 01433334     EISSN: 14602180     Source Type: Journal    
DOI: 10.1093/carcin/bgu148     Document Type: Article

References (58)

1. Howlader, N.N.A. et al. (eds) (2012) SEER Cancer Statistics Review, 1975-2009 (Vintage 2009 Populations), Based on November 2011 SEER Data Submission. http://seer.cancer.gov/csr/1975_2009_pops09/(21 May 2014, date last accessed).
2. Ferlay, J.S.H. et al. (2010) GLOBOCAN 2008 v1.2, Cancer Incidence and Mortality Worldwide: IARC CancerBase No. 10. http://globocan.iarc.fr. http://globocan.iarc.fr (21 May 2014, date last accessed).
3. Fireman, Z. et al. (2001) Ethnic differences in colorectal cancer among Arab and Jewish neighbors in Israel. Am. J. Gastroenterol., 96, 204-207.
4. Haggar, F.A. et al. (2009) Colorectal cancer epidemiology: incidence, mortality, survival, and risk factors. Clin. Colon Rectal Surg., 22, 191-197.
5. Kemp, Z. et al. (2004) An update on the genetics of colorectal cancer. Hum. Mol. Genet., 13 (Spec No 2), R177-R185.
6. Burt, R. (2007) Inheritance of colorectal cancer. Drug Discov. Today Dis. Mech., 4, 293-300.
7. Fearon, E.R. (2011) Molecular genetics of colorectal cancer. Annu. Rev. Pathol., 6, 479-507.
8. Visscher, P.M. et al. (2012) Five years of GWAS discovery. Am. J. Hum. Genet., 90, 7-24.
9. Gruber, S.B. et al. (2007) Genetic variation in 8q24 associated with risk of colorectal cancer. Cancer Biol. Ther., 6, 1143-1147.
10. Jaeger, E., et al. (2008) Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat. Genet., 40, 26-28.
11. Zanke, B.W. et al. (2007) Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat. Genet., 39, 989-994.
12. Broderick, P. et al. (2007) A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat. Genet., 39, 1315-1317.
13. Tomlinson, I. et al. (2007) A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat. Genet., 39, 984-998.
14. Houlston, R.S. et al. (2008) Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat. Genet., 40, 1426-1435.
15. Neklason, D.W. et al. (2008) Common familial colorectal cancer linked to chromosome 7q31: a genome-wide analysis. Cancer Res., 68, 8993-8997.
16. Tomlinson, I.P. et al. (2008) A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat. Genet., 40:623-630.
17. Tenesa, A. et al. (2008) Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat. Genet., 40, 631-637.
18. Houlston, R.S. et al. (2010) 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., 42, 973-977.
19. Peters, U. et al. (2012) Meta-analysis of new genome-wide association studies of colorectal cancer risk. Hum. Genet., 131, 217-234.
20. Peters, U. et al. (2013) Identification of genetic susceptibility loci for colorectal tumors in a genome-wide meta-analysis. Gastroenterology, 144, 799-807.
21. Dunlop, M.G. et al. (2012) Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat. Genet., 44, 770-776.
22. Tomlinson, I.P. et al. (2011) Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genet., 7, e1002105.
23. Tenesa, A. et al. (2009) New insights into the aetiology of colorectal cancer from genome-wide association studies. Nat. Rev. Genet., 10, 353-358.
24. Manolio, T.A. et al. (2009) Finding the missing heritability of complex diseases. Nature, 461, 747-753.
25. Chung, C.C. et al. (2011) Current status of genome-wide association studies in cancer. Hum. Genet., 130, 59-78.
26. Kraft, P. et al. (2009) Genetic risk prediction-are we there yet? N. Engl. J. Med., 360, 1701-1703.
27. Jo, J. et al. (2012) Prediction of colorectal cancer risk using a genetic risk score: The Korean Cancer Prevention Study-II (KCPS-II). Genomics Inform., 10, 175-183.
28. Goldstein, D.B. (2009) Common genetic variation and human traits. N. Engl. J. Med., 360, 1696-1698.
29. Gibson, G. (2011) Rare and common variants: twenty arguments. Nat. Rev. Genet., 13, 135-145.
30. Bodmer, W. et al. (2008) Common and rare variants in multifactorial susceptibility to common diseases. Nat. Genet., 40, 695-701.
31. Poynter, J.N. et al. (2005) Statins and the risk of colorectal cancer. N. Engl. J. Med., 352, 2184-2192.
32. Newcomb, P.A. et al. (2007) Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol. Biomarkers Prev., 16:2331-2343.
33. Figueiredo, J.C. et al. (2011) Genotype-environment interactions in microsatellite stable/microsatellite instability-low colorectal cancer: results from a genome-wide association study. Cancer Epidemiol. Biomarkers Prev., 20, 758-766.
34. Stacklies, W. et al. (2007) pcaMethods-a bioconductor package providing PCA methods for incomplete data. Bioinformatics, 23, 1164-1167.
35. Price, A.L. et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet., 38, 904-909.
36. Delaneau, O. et al. (2012) A linear complexity phasing method for thousands of genomes. Nat. Methods, 9, 179-181.
37. Howie, B. et al. (2012) Fast and accurate genotype imputation in genomewide association studies through pre-phasing. Nat. Genet., 44, 955-959.
38. Abecasis, G.R. et al. (2010) A map of human genome variation from population-scale sequencing. Nature, 467, 1061-1073.
39. Willer, C.J. et al. (2010) METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics, 26, 2190-2191.
40. Purcell, S. et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
41. Dudbridge, F. et al. (2008) Estimation of significance thresholds for genomewide association scans. Genet. Epidemiol., 32, 227-234.
42. Skol, A.D. et al. (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat. Genet., 38, 209-213.
43. Pruim, R.J. et al. (2010) LocusZoom: regional visualization of genomewide association scan results. Bioinformatics, 26, 2336-2337.
44. Jiao, S. et al. (2012) Genome-wide search for gene-gene interactions in colorectal cancer. PLoS One, 7, e52535.
45. Dunham, I. et al. (2012) An integrated encyclopedia of DNA elements in the human genome. Nature, 489, 57-74.
46. Zabala, W. et al. (2013) New genetic associations in thiopurine-related bone marrow toxicity among inflammatory bowel disease patients. Pharmacogenomics, 14, 631-640.
47. Massagué, J. et al. (2000) TGFbeta signaling in growth control, cancer, and heritable disorders. Cell, 103, 295-309.
48. Xu, Y. et al. (2007) TGF-beta signaling alterations and susceptibility to colorectal cancer. Hum. Mol. Genet., 16 (Spec No 1), R14-R20.
49. Bellam, N. et al. (2010) Tgf-beta signaling alterations and colon cancer. Cancer Treat. Res., 155, 85-103.
50. Egan, E.D. et al. (2012) An enhanced H/ACA RNP assembly mechanism for human telomerase RNA. Mol. Cell Biol., 32, 2428-2439.
51. Codd, V. et al. (2013) Identification of seven loci affecting mean telomere length and their association with disease. Nat. Genet., 45, 422-427, 427e1.
52. Blasco, M.A. (2005) Telomeres and human disease: ageing, cancer and beyond. Nat. Rev. Genet., 6, 611-622.
53. Sanz-Pamplona, R. et al. (2011) Gene expression differences between colon and rectum tumors. Clin. Cancer Res., 17, 7303-7312.
54. Bertucci, F. et al. (2004) Gene expression profiling of colon cancer by DNA microarrays and correlation with histoclinical parameters. Oncogene, 23, 1377-1391.
55. Birkenkamp-Demtroder, K. et al. (2005) Differential gene expression in colon cancer of the caecum versus the sigmoid and rectosigmoid. Gut, 54, 374-384.
56. Mequid, R.A. et al. (2008) Is there a difference in survival between rightand left-sided colon cancers? Ann. Surg. Oncol., 15, 2388-2394.
57. Mavaddat, N. et al. (2013) Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J. Natl. Cancer Inst., 105, 812-822.
58. Pittman, A.M. et al. (2008) Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Hum. Mol. Genet., 17, 3720-3727.