Management of colorectal cancer: A role for genetics in prevention and treatment?

Pathology Research and Practice

Volumn 204, Issue 7, 2008, Pages 469-477

  Sengupta, Neel ^a   Gill, Kathryn A ^a   MacFie, Tammie S ^a   Lai, Cecilia S ^a   Suraweera, Nirosha ^a   Mcdonald, Sarah ^a   Silver, Andrew ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Chromosomal instability; Colorectal cancer; Instability; Microsatellite; Single nucleotide polymorphism

Indexed keywords

ANTINEOPLASTIC AGENT; APC PROTEIN; B RAF KINASE; BETA CATENIN; BEVACIZUMAB; CETUXIMAB; CYCLOOXYGENASE 2 INHIBITOR; FLUOROURACIL; IMATINIB; IRINOTECAN; K RAS PROTEIN; OXALIPLATIN; PKF 115 584; PROTEIN KINASE B; TRANSFORMING GROWTH FACTOR BETA; TRASTUZUMAB;

ARTICLE; CANCER CLASSIFICATION; CANCER GENETICS; CANCER RISK; CANCER STAGING; CANCER SURVIVAL; CANCER SUSCEPTIBILITY; CHROMOSOME ABERRATION; CLINICAL ASSESSMENT; CLINICAL PRACTICE; COLON CARCINOGENESIS; COLONOSCOPY; COLORECTAL ADENOMA; COLORECTAL CANCER; COLORECTAL CARCINOMA; COLORECTAL SURGERY; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DRUG EFFICACY; DRUG MECHANISM; DRUG RESEARCH; DRUG RESPONSE; DRUG SAFETY; DRUG TARGETING; EARLY INTERVENTION; ENDOSCOPIC SURGERY; FAMILIAL CANCER; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HIGH RISK PATIENT; HISTOPATHOLOGY; HUMAN; LYMPH NODE METASTASIS; MALIGNANT TRANSFORMATION; MICROARRAY ANALYSIS; MICROSURGERY; MONOTHERAPY; MUTATIONAL ANALYSIS; NONHUMAN; ONCOGENE; PHARMACOGENETICS; PROGNOSIS; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL RATE; SURVIVAL TIME; TUMOR SUPPRESSOR GENE; UNSPECIFIED SIDE EFFECT;

ADENOCARCINOMA; ADENOMA; COLORECTAL NEOPLASMS; GENES, NEOPLASM; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOMIC INSTABILITY; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 46749158634     PISSN: 03440338     EISSN: 16180631     Source Type: Journal    
DOI: 10.1016/j.prp.2008.03.003     Document Type: Article

References (71)

1. Abdel-Rahman W.M., and Peltomaki P. Molecular basis and diagnostics of hereditary colorectal cancers. Ann. Med. 36 (2004) 379-388
2. Abraham J., Earl H.M., Pharoah P.D., and Caldas C. Pharmacogenetics of cancer chemotherapy. Biochim. Biophys. Acta 1766 (2006) 168-183
3. Atmaca A., Al-Batran S.E., Maurer A., Neumann A., Heinzel T., Hentsch B., Schwarz S.E., Hovelmann S., Gottlicher M., Knuth A., and Jager E. Valproic acid (VPA) in patients with refractory advanced cancer: a dose escalating phase I clinical trial. Br J. Cancer 97 (2007) 177-182
4. Bosch T.M., Meijerman I., Beijnen J.H., and Schellens J.H. Genetic polymorphisms of drug-metabolising enzymes and drug transporters in the chemotherapeutic treatment of cancer. Clin. Pharmacokinet. 45 (2006) 253-285
5. Boyle P., and Ferlay J. Mortality and survival in breast and colorectal cancer. Nat. Clin. Pract. Oncol. 2 (2005) 424-425
6. Bras-Goncalves R.A., Rosty C., Laurent-Puig P., Soulie P., Dutrillaux B., and Poupon M.F. Sensitivity to CPT-11 of xenografted human colorectal cancers as a function of microsatellite instability and p53 status. Br J. Cancer 82 (2000) 913-923
7. Bubb V.J., Curtis L.J., Cunningham C., Dunlop M.G., Carothers A.D., Morris R.G., White S., Bird C.C., and Wyllie A.H. Microsatellite instability and the role of hMSH2 in sporadic colorectalcancer. Oncogene 12 (1996) 2641-2649
8. Cahill D.P., Lengauer C., Yu J., Riggins G.J., Willson J.K., Markowitz S.D., Kinzler K.W., and Vogelstein B. Mutations of mitotic checkpoint genes in human cancers. Nature 392 (1998) 300-303
9. Cancer Research UK. Cancer Stats-Bowel (colorectal) cancer. Internet Communication 13-11-2006.
10. Chan T.L., Curtis L.C., Leung S.Y., Farrington S.M., Ho J.W., Chan A.S., Lam P.W., Tse C.W., Dunlop M.G., Wyllie A.H., and Yuen S.T. Earlyonset colorectal cancer with stable microsatellite DNA and near-diploid chromosomes. Oncogene 20 (2001) 4871-4876
11. Cianchi F., Balzi M., Becciolini A., Giache V., Messerini L., Palomba A., Tisti E., Faraoni P., Chellini F., Pucciani F., Perigli G., and Cortesini C. Correlation between DNA content and p53 deletion in colorectal cancer. Eur. J. Surg. 165 (1999) 363-368
12. M.P. Coleman, P. Babb, V. Harris, Cancer survival in England and Wales 1991-1998, Health Statistics Quarterly: Office for National Statistics, 2000.
13. Cunningham J.M., Christensen E.R., Tester D.J., Kim C.Y., Roche P.C., Burgart L.J., and Thibodeau S.N. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res. 58 (1998) 3455-3460
14. Cunningham D., Humblet Y., Siena S., Khayat D., Bleiberg H., Santoro A., Bets D., Mueser M., Harstrick A., Verslype C., Chau I., and Van Cutsem E. Cetuximab monotherapy and cetuximab plus irinotecan in irinotecanrefractory metastatic colorectal cancer. N Engl. J. Med. 351 (2004) 337-345
15. Day D.W., Jass J.R., Price A.B., Shepherd N.A., Sloan J.M., Talbot I.C., Warren B.F., and Williams G.T. Epithelial tumours of the large intestine. Morson and Dawson's Gastrointestinal Pathology (2003), Blackwell Publishing Ltd, Oxford 551-609
16. Dorundi S., and Bannerjea A. Colorectal cancer: early diagnosis and predisposing causes. Surgery 24 (2006) 131-136
17. Douglas E.J., Fiegler H., Rowan A., Halford S., Bicknell D.C., Bodmer W., Tomlinson I.P., and Carter N.P. Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas. Cancer Res. 64 (2004) 4817-4825
18. Dutt A., and Beroukhim R. Single nucleotide polymorphism array analysis of cancer. Curr. Opin. Oncol. 19 (2007) 43-49
19. Gazin C., Wajapeyee N., Gobeil S., Virbasius C.M., and Green M.R. An elaborate pathway required for Ras-mediated epigenetic silencing. Nature 449 (2007) 1073-1077
20. Georgiades I.B., Curtis L.J., Morris R.M., Bird C.C., and Wyllie A.H. Heterogeneity studies identify a subset of sporadic colorectal cancers without evidence for chromosomal or microsatellite instability. Oncogene 18 (1999) 7933-7940
21. Giantonio B.J., Catalano P.J., Meropol N.J., O'Dwyer P.J., Mitchell E.P., Alberts S.R., Schwartz M.A., and Benson Jr. A.B. Bevacizumab in combination with oxaliplatin, fluorouracil, and leucovorin (FOLFOX4) for previously treated metastatic colorectal cancer: results from the eastern cooperative oncology group study E3200. J. Clin. Oncol. 25 (2007) 1539-1544
22. Glinsky G.V. Integration of HapMap-based SNP pattern analysis and gene expression profiling reveals common SNP profiles for cancer therapy outcome predictor genes. Cell Cycle 5 (2006) 2613-2625
23. Goel A., Nagasaka T., Arnold C.N., Inoue T., Hamilton C., Niedzwiecki D., Compton C., Mayer R.J., Goldberg R., Bertagnolli M.M., and Boland C.R. The CpG island methylator phenotype and chromosomal instability are inversely correlated in sporadic colorectal cancer. Gastroenterology 132 (2007) 127-138
24. Gunderson K.L., Kuhn K.M., Steemers F.J., Ng P., Murray S.S., and Shen R. Whole-genome genotyping of haplotype tag single nucleotide polymorphisms. Pharmacogenomics 7 (2006) 641-648
25. Haiman C.A., Le Marchand L., Yamamato J., Stram D.O., Sheng X., Kolonel L.N., Wu A.H., Reich D., and Henderson B.E. A common genetic risk factor for colorectal and prostate cancer. Nat. Genet. 39 (2007) 954-956
26. Hawkins N.J., Tomlinson I., Meagher A., and Ward R.L. Microsatellitestable diploid carcinoma: a biologically distinct and aggressive subset of sporadic colorectal cancer. Br. J. Cancer 84 (2001) 232-236
27. Hu G., Wang H.Y., Greenawalt D.M., Azaro M.A., Luo M., Tereshchenko I.V., Cui X., Yang Q., Gao R., Shen L., and Li H. AccuTyping: new algorithms for automated analysis of data from high-throughput genotyping with oligonucleotide microarrays. Nucleic Acids Res. 34 (2006) e116
28. Hua J., Craig D.W., Brun M., Webster J., Zismann V., Tembe W., Joshipura K., Huentelman M.J., Dougherty E.R., and Stephan D.A. SNiPer-HD: improved genotype calling accuracy by an expectation-maximization algorithm for high-density SNP arrays. Bioinformatics 23 (2007) 57-63
29. Huang X., and Guo B. Adenomatous polyposis coli determines sensitivity to histone deacetylase inhibitor-induced apoptosis in colon cancer cells. Cancer Res. 66 (2006) 9245-9251
30. Hughes T.P., Kaeda J., Branford S., Rudzki Z., Hochhaus A., Hensley M.L., Gathmann I., Bolton A.E., van Hoomissen I.C., Goldman J.M., and Radich J.P. Frequency of major molecular responses to imatinib or interferon alfa plus cytarabine in newly diagnosed chronic myeloid leukemia. N Engl. J. Med. 349 (2003) 1423-1432
31. Ionov Y., Peinado M.A., Malkhosyan S., Shibata D., and Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363 (1993) 558-561
32. Jacobs S., Thompson E.R., Nannya Y., Yamamoto G., Pillai R., Ogawa S., Bailey D.K., and Campbell I.G. Genome-wide, high-resolution detection of copy number, loss of heterozygosity, and genotypes from formalin-fixed, paraffin-embedded tumor tissue using microarrays. Cancer Res. 67 (2007) 2544-2551
33. 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 J.B., Kerr D., Gray R., Peto J., Dunlop M., Campbell H., Thomas H., Houlston R., and Tomlinson I. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat. Genet. 40 (2008) 26-28
34. Jonker D.J., O'Callaghan C.J., Karapetis C.S., Zalcberg J.R., Tu D., Au H.J., Berry S.R., Krahn M., Price T., Simes R.J., Tebbutt N.C., van Hazel G., Wierzbicki R., Langer C., and Moore M.J. Cetuximab for the treatment of colorectal cancer. N Engl. J. Med. 357 (2007) 2040-2048
35. Kaelin Jr. W.G. The concept of synthetic lethality in the context of anticancer therapy. Nat. Rev. Cancer 5 (2005) 689-698
36. Kinzler K.W., and Vogelstein B. Lessons from hereditary colorectal cancer. Cell 87 (1996) 159-170
37. Kuismanen S.A., Holmberg M.T., Salovaara R., Schweizer P., Aaltonen L.A., de La Chapelle A., Nystrom-Lahti M., and Peltomaki P. Epigenetic phenotypes distinguish microsatellite-stable and-unstable colorectal cancers. Proc. Natl. Acad. Sci. USA 96 (1999) 12661-12666
38. Kuismanen S.A., Holmberg M.T., Salovaara R., de la Chapelle A., and Peltomaki P. Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J. Pathol. 156 (2000) 1773-1779
39. Lengauer C., Kinzler K.W., and Vogelstein B. Genetic instability in colorectal cancers. Nature 386 (1997) 623-627
40. Lepourcelet M., Chen Y.N., France D.S., Wang H., Crews P., Petersen F., Bruseo C., Wood A.W., and Shivdasani R.A. Small-molecule antagonists of the oncogenic Tcf/beta-catenin protein complex. Cancer Cell 5 (2004) 91-102
41. Lichtenstein P., Holm N.V., Verkasalo P.K., Iliadou A., Kaprio J., Koskenvuo M., Pukkala E., Skytthe A., and 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. 343 (2000) 78-85
42. Lieberman D. Screening/early detection model for colorectal cancer. Why screen?. Cancer 74 (1994) 2023-2027
43. Lips E.H., de Graaf E.J., Tollenaar R.A., van Eijk R., Oosting J., Szuhai K., Karsten T., Nanya Y., Ogawa S., van de Velde C.J., Eilers P.H., van Wezel T., and Morreau H. Single nucleotide polymorphism array analysis of chromosomal instability patterns discriminates rectal adenomas from carcinomas. J. Pathol. 212 (2007) 269-277
44. Lipton L., and Tomlinson I. The genetics of FAP and FAP-like syndromes. Fam. Cancer 5 (2006) 221-226
45. Liu B., Parsons R., Papadopoulos N., Nicolaides N.C., Lynch H.T., Watson P., Jass J.R., Dunlop M., Wyllie A., Peltomaki P., de la Chapelle A., Hamilton S.R., Vogelstein B., and Kinzler K.W. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat. Med. 2 (1996) 169-174
46. Lothe R.A., Peltomaki P., Meling G.I., Aaltonen L.A., Nystrom-Lahti M., Pylkkanen L., Heimdal K., Andersen T.I., Moller P., Rognum T.O., et al. Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history. Cancer Res. 53 (1993) 5849-5852
47. Meguerditchian A.N., Bairati I., Lagace R., Harel F., and Kibrite A. Prognostic significance of lymphovascular invasion in surgically cured rectal carcinoma. Am. J. Surg. 189 (2005) 707-713
48. Oosting J., Lips E.H., van Eijk R., Eilers P.H., Szuhai K., Wijmenga C., Morreau H., and van Wezel T. High-resolution copy number analysis of paraffinembedded archival tissue using SNP BeadArrays. Genome. Res. 17 (2007) 368-376
49. J. Potter, D. Hunter, Colorectal cancer, in: D. Trichopoulos, D. Hunter, H.O. Adami (Eds.), Textbook of Cancer Epidemiology, 2002, pp. 188-211
50. Ried T., Knutzen R., Steinbeck R., Blegen H., Schrock E., Heselmeyer K., du Manoir S., and Auer G. Comparative genomic hybridization reveals a specific pattern of chromosomal gains and losses during the genesis of colorectal tumors. Genes Chromosomes Cancer 15 (1996) 234-245
51. Rustgi A.K. The genetics of hereditary colon cancer. Genes Dev. 21 (2007) 2525-2538
52. Saltz L.B., Meropol N.J., Loehrer Sr. P.J., Needle M.N., Kopit J., and Mayer R.J. Phase II trial of cetuximab in patients with refractory colorectal cancer that expresses the epidermal growth factor receptor. J. Clin. Oncol. 22 (2004) 1201-1208
53. Scholefield J.H. ABC of colorectal cancer: screening. BMJ 321 (2000) 1004-1006
54. Slamon D.J., Leyland-Jones B., Shak S., Fuchs H., Paton V., Bajamonde A., Fleming T., Eiermann W., Wolter J., Pegram M., Baselga J., and Norton L. Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2. N Engl. J. Med. 344 (2001) 783-792
55. Stoehlmacher J., Park D.J., Zhang W., Groshen S., Tsao-Wei D.D., Yu M.C., and Lenz H.J. Association between glutathione S-transferase P1, T1, and M1 genetic polymorphism and survival of patients with metastatic colorectal cancer. J. Natl. Cancer Inst. 94 (2002) 936-942
56. Strate L.L., and Syngal S. Hereditary colorectal cancer syndromes. Cancer Causes Control 16 (2005) 201-213
57. Sukhdeo K., Mani M., Zhang Y., Dutta J., Yasui H., Rooney M.D., Carrasco D.E., Zheng M., He H., Tai Y.T., Mitsiades C., Anderson K.C., and Carrasco D.R. Targeting the beta-catenin/TCF transcriptional complex in the treatment of multiple myeloma. Proc. Natl. Acad. Sci. USA 104 (2007) 7516-7521
58. Terry M.B., Neugut A.I., Bostick R.M., Sandler R.S., Haile R.W., Jacobson J.S., Fenoglio-Preiser C.M., and Potter J.D. Risk factors for advanced colorectal adenomas: a pooled analysis. Cancer Epidemiol. Biomarkers Prev. 11 (2002) 622-629
59. Thibodeau S.N., French A.J., Cunningham J.M., Tester D., Burgart L.J., Roche P.C., McDonnell S.K., Schaid D.J., Vockley C.W., Michels V.V., Farr Jr. G.H., and O'Connell M.J. Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1. Cancer Res. 58 (1998) 1713-1718
60. Toft N.J., and Arends M.J. DNA mismatch repair and colorectal cancer. J. Pathol. 185 (1998) 123-129
61. 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 J.B., and Houlston R. A genomewide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat. Genet. 39 (2007) 984-988
62. Van Rijnsoever M., Elsaleh H., Joseph D., McCaul K., and Iacopetta B. CpG island methylator phenotype is an independent predictor of survival benefit from 5-fluorouracil in stage III colorectal cancer. Clin. Cancer Res. 9 (2003) 2898-2903
63. Vasen H.F. Review article: the Lynch syndrome (hereditary nonpolyposis colorectal cancer). Aliment Pharmacol. Ther. 26 Suppl 2 (2007) 113-126
64. Veigl M.L., Kasturi L., Olechnowicz J., Ma A.H., Lutterbaugh J.D., Periyasamy S., Li G.M., Drummond J., Modrich P.L., Sedwick W.D., and Markowitz S.D. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc. Natl. Acad. Sci. USA 95 (1998) 8698-8702
65. Warusavitarne J., and Schnitzler M. The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer. Int. J. Colorectal. Dis. 22 (2007) 739-748
66. Watson M.A., Stewart R.K., Smith G.B., Massey T.E., and Bell D.A. Human glutathione S-transferase P1 polymorphisms: relationship to lung tissue enzyme activity and population frequency distribution. Carcinogenesis 19 (1998) 275-280
67. Weinstein I.B. Cancer. Addiction to oncogenes-the Achilles heal of cancer. Science 297 (2002) 63-64
68. Weinstein I.B., and Joe A.K. Mechanisms of disease: oncogene addiction-a rationale for molecular targeting in cancer therapy. Nat. Clin. Pract. Oncol. 3 (2006) 448-457
69. Yosef N., Yakhini Z., Tsalenko A., Kristensen V., Borresen-Dale A.L., Ruppin E., and Sharan R. A supervised approach for identifying discriminating genotype patterns and its application to breast cancer data. Bioinformatics 23 (2007) e91-e98
70. Zanke B.W., Greenwood C.M., Rangrej J., Kustra R., Tenesa A., Farrington S.M., Prendergast J., Olschwang S., Chiang T., Crowdy E., Ferretti V., Laflamme P., Sundararajan S., Roumy S., Olivier J.F., Robidoux F., Sladek R., Montpetit A., Campbell P., Bezieau S., O'Shea A.M., Zogopoulos G., Cotterchio M., Newcomb P., McLaughlin J., Younghusband B., Green R., Green J., Porteous M.E., Campbell H., Blanche H., Sahbatou M., Tubacher E., Bonaiti-Pellie C., Buecher B., Riboli E., Kury S., Chanock S.J., Potter J., Thomas G., Gallinger S., Hudson T.J., and Dunlop M.G. Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat. Genet. 39 (2007) 989-994
71. Zhu P., Martin E., Mengwasser J., Schlag P., Janssen K.P., and Gottlicher M. Induction of HDAC2 expression upon loss of APC in colorectal ntumorigenesis. Cancer Cell 5 (2004) 455-463