Genetic predisposition to gastro-oesophageal cancer

Current Opinion in Genetics and Development

Volumn 20, Issue 3, 2010, Pages 210-217

  Lao Sirieix, Pierre ^a   Caldas, Carlos ^b   Fitzgerald, Rebecca C ^a  

^a HUTCHISON MRC RESEARCH CENTRE   (United Kingdom)

^b IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALCOHOL DEHYDROGENASE; ALCOHOL DEHYDROGENASE 1B1; ALDEHYDE DEHYDROGENASE ISOENZYME 2; CAGA PROTEIN; CYTOCHROME P450 1A1; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 1BETA; PROSTATE SPECIFIC ANTIGEN; UNCLASSIFIED DRUG; UVOMORULIN; VACUOLATING TOXIN; ADH1B PROTEIN, HUMAN; ALDEHYDE DEHYDROGENASE; ALDH2 PROTEIN, HUMAN; CADHERIN; CDH1 PROTEIN, HUMAN;

ALCOHOL CONSUMPTION; CANCER INCIDENCE; CARCINOGENESIS; CAUSE OF DEATH; DIGESTIVE SYSTEM CANCER; ENVIRONMENTAL FACTOR; ESOPHAGEAL ADENOCARCINOMA; ESOPHAGUS CANCER; GASTROESOPHAGEAL REFLUX; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; HELICOBACTER PYLORI; HUMAN; LIFESTYLE; PRIORITY JOURNAL; REVIEW; RISK FACTOR; SMOKING; SQUAMOUS CELL CARCINOMA; STOMACH CANCER; ESOPHAGUS TUMOR; GENETICS; STOMACH TUMOR;

HELICOBACTER PYLORI;

ALCOHOL DEHYDROGENASE; ALDEHYDE DEHYDROGENASE; CADHERINS; CARCINOMA, SQUAMOUS CELL; ESOPHAGEAL NEOPLASMS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; RISK FACTORS; STOMACH NEOPLASMS;

EID: 77953609717     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gde.2010.03.002     Document Type: Review

References (81)

1. Parkin D.M., Bray F., Ferlay J., Pisani P. Global cancer statistics, 2002. CA Cancer J Clin 2005, 55:74-108.
2. Mathers C.D., Loncar D. Projections of global mortality and burden of disease from 2002 to 2030. PLoS Med 2006, 3:e442.
3. Kamangar F., Dores G.M., Anderson W.F. Patterns of cancer incidence, mortality, and prevalence across five continents: defining priorities to reduce cancer disparities in different geographic regions of the world. J Clin Oncol 2006, 24:2137-2150.
4. Brown L.M., Devesa S.S., Chow W.H. Incidence of adenocarcinoma of the esophagus among white Americans by sex, stage, and age. J Natl Cancer Inst 2008, 100:1184-1187.
5. Blot W.J., Devesa S.S., Kneller R.W., Fraumeni J.F. Rising incidence of adenocarcinoma of the esophagus and gastric cardia. JAMA 1991, 265:1287-1289.
6. Pera M. Trends in incidence and prevalence of specialized intestinal metaplasia, barrett's esophagus, and adenocarcinoma of the gastroesophageal junction. W J Surg 2003, 27:999-1006.
7. Hongo M., Nagasaki Y., Shoji T. Epidemiology of esophageal cancer: orient to occident, effects of chronology, geography and ethnicity. J Gastroenterol Hepatol 2009, 24:729-735.
8. Ke L. Mortality and incidence trends from esophagus cancer in selected geographic areas of China circa 1970-90. Int J Cancer 2002, 102:271-274.
9. Somdyala N.I., Marasas W.F., Venter F.S., Vismer H.F., Gelderblom W.C., Swanevelder S.A. Cancer patterns in four districts of the Transkei region-1991-1995. S Afr Med J 2003, 93:144-148.
10. Kamangar F., Malekzadeh R., Dawsey S.M., Saidi F. Esophageal cancer in Northeastern Iran: a review. Arch Iran Med 2007, 10:70-82.
11. Vaughan T.L., Davis S., Kristal A., Thomas D.B. Obesity, alcohol, and tobacco as risk factors for cancers of the esophagus and gastric cardia: adenocarcinoma versus squamous cell carcinoma. Cancer Epidemiol Biomarkers Prev 1995, 4:85-92.
12. Romano M., Ricci V., Zarrilli R. Mechanisms of Disease: Helicobacter pylori-related gastric carcinogenesis-implications for chemoprevention. Nat Clin Pract Gastroenterol Hepatol 2006, 3:622-632.
13. Merry A.H.H., Schouten L.J., Goldbohm R.A., van den Brandt P.A. Body mass index, height and risk of adenocarcinoma of the oesophagus and gastric cardia: a prospective cohort study. Gut 2007, 56:1503-1511.
14. Steevens J., Schouten L.J., Goldbohm R.A., van den Brandt P.A. Alcohol consumption, cigarette smoking and risk of subtypes of oesophageal and gastric cancer: a prospective cohort study. Gut 2009, 59:39-48.
15. Pandeya N., Williams G., Green A.C., Webb P.M., Whiteman D.C. Alcohol consumption and the risks of adenocarcinoma and squamous cell carcinoma of the esophagus. Gastroenterology 2009, 136. 1215-1224.e1212.
16. Wild C.P., Hardie L.J. Reflux, Barrett's oesophagus and adenocarcinoma: burning questions. Nat Rev Cancer 2003, 3:676-684.
17. Corley D.A., Kubo A., Levin T.R., Block G., Habel L., Zhao W., Leighton P., Quesenberry C., Rumore G.J., Buffler P.A. Abdominal obesity and body mass index as risk factors for Barrett's esophagus. Gastroenterology 2007, 133:34-41. quiz 311.
18. Corley D.A., Kubo A., Zhao W. Abdominal obesity and the risk of esophageal and gastric cardia carcinomas. Cancer Epidemiol Biomarkers Prev 2008, 17:352-358.
19. Rubenstein J.H., Kao J.Y., Madanick R.D., Zhang M., Wang M., Spacek M.B., Donovan J.L., Bright S.D., Shaheen N.J. Association of adiponectin multimers with Barrett's oesophagus. Gut 2009, 58:1583-1589.
20. Hiyama T., Yoshihara M., Tanaka S., Chayama K. Genetic polymorphisms and esophageal cancer risk. Int J Cancer 2007, 121:1643-1658.
21. Cheung W.Y., Liu G. Genetic variations in esophageal cancer risk and prognosis. Gastroenterol Clin North Am 2009, 38:75-91. viii.
22. Yang C.X., Matsuo K., Wang Z.M., Tajima K. Phase I/II enzyme gene polymorphisms and esophageal cancer risk: a meta-analysis of the literature. World J Gastroenterol 2005, 11:2531-2538.
23. Li Y., Zhang D., Jin W., Shao C., Yan P., Xu C., Sheng H., Liu Y., Yu J., Xie Y., et al. Mitochondrial aldehyde dehydrogenase-2 (ALDH2) Glu504Lys polymorphism contributes to the variation in efficacy of sublingual nitroglycerin. J Clin Invest 2006, 116:506-511.
24. Brennan P., Lewis S., Hashibe M., Bell D.A., Boffetta P., Bouchardy C., Caporaso N., Chen C., Coutelle C., Diehl S.R., et al. Pooled analysis of alcohol dehydrogenase genotypes and head and neck cancer: a HuGE review. Am J Epidemiol 2004, 159:1-16.
25. Druesne-Pecollo N., Tehard B., Mallet Y., Gerber M., Norat T., Hercberg S., Latino-Martel P. Alcohol and genetic polymorphisms: effect on risk of alcohol-related cancer. Lancet Oncol 2009, 10:173-180.
26. Hashibe M., McKay J.D., Curado M.P., Oliveira J.C., Koifman S., Koifman R., Zaridze D., Shangina O., Wunsch-Filho V., Eluf-Neto J., et al. Multiple ADH genes are associated with upper aerodigestive cancers. Nat Genet 2008, 40:707-709.
27. Hashibe M., Boffetta P., Zaridze D., Shangina O., Szeszenia-Dabrowska N., Mates D., Janout V., Fabiánová Er., Bencko V., Moullan N., et al. Evidence for an important role of alcohol- and aldehyde-metabolizing genes in cancers of the upper aerodigestive tract. Cancer Epidemiol Biomark Prev 2006, 15:696-703.
28. Oze I., Matsuo K., Suzuki T., Kawase T., Watanabe M., Hiraki A., Ito H., Hosono S., Ozawa T., Hatooka S., et al. Impact of multiple alcohol dehydrogenase gene polymorphisms on risk of upper aerodigestive tract cancers in a Japanese population. Cancer Epidemiol Biomark Prev 2009, 18:3097-3102.
29. Cui R., Kamatani Y., Takahashi A., Usami M., Hosono N., Kawaguchi T., Tsunoda T., Kamatani N., Kubo M., Nakamura Y., et al. Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. Gastroenterology 2009, 137:1768-1775.
30. Bass A.J., Meyerson M. Genome-wide association study in esophageal squamous cell carcinoma. Gastroenterology 2009, 137:1573-1576.
31. Yokoyama A., Omori T. Genetic polymorphisms of alcohol and aldehyde dehydrogenases and risk for esophageal and head and neck cancers. Alcohol 2005, 35:175-185.
32. Hiraki A., Matsuo K., Wakai K., Suzuki T., Hasegawa Y., Tajima K. Gene-gene and gene-environment interactions between alcohol drinking habit and polymorphisms in alcohol-metabolizing enzyme genes and the risk of head and neck cancer in Japan. Cancer Sci 2007, 98:1087-1091.
33. Dong L.M., Potter J.D., White E., Ulrich C.M., Cardon L.R., Peters U. Genetic susceptibility to cancer: the role of polymorphisms in candidate genes. JAMA 2008, 299:2423-2436.
34. Lewis S.J., Smith G.D. Alcohol, ALDH2, and esophageal cancer: a meta-analysis which illustrates the potentials and limitations of a Mendelian randomization approach. Cancer Epidemiol Biomarkers Prev 2005, 14:1967-1971.
35. Seitz H.K., Stickel F. Molecular mechanisms of alcohol-mediated carcinogenesis. Nat Rev Cancer 2007, 7:599-612.
36. Zhuo W.-L., Zhang Y.-S., Wang Y., Zhuo X.-L., Zhu B., Cai L., Chen Z.-T. Association Studies of CYP1A1 and GSTM1 Polymorphisms with Esophageal Cancer Risk: Evidence-based Meta-analyses. Arch Med Res 2009, 40:169-179.
37. Reszka E., Wasowicz W., Gromadzinska J. Genetic polymorphism of xenobiotic metabolising enzymes, diet and cancer susceptibility. Br J Nutr 2006, 96:609-619.
38. Crabb D.W., Berk M.A., Hall T.R., Conneally P.M., Biegel A.A., Lehman G.A. Familial gastroesophageal reflux and development of Barrett's esophagus. Ann Intern Med 1985, 103:52-54.
39. Eng C., Spechler S.J., Ruben R., Li F.P. Familial Barrett esophagus and adenocarcinoma of the gastroesophageal junction. Cancer Epidemiol Biomarkers Prev 1993, 2:397-399.
40. Jochem V.J., Fuerst P.A., Fromkes J.J. Familial Barrett's esophagus associated with adenocarcinoma. Gastroenterology 1992, 102:1400-1402.
41. Chak A., Ochs-Balcom H., Falk G., Grady W.M., Kinnard M., Willis J.E., Elston R., Eng C. Familiality in Barrett's esophagus, adenocarcinoma of the esophagus, and adenocarcinoma of the gastroesophageal junction. Cancer Epidemiol Biomarkers Prev 2006, 15:1668-1673.
42. Chak A., Faulx A., Kinnard M., Brock W., Willis J., Wiesner G.L., Parrado A.R., Goddard K.A. Identification of Barrett's esophagus in relatives by endoscopic screening. Am J Gastroenterol 2004, 99:2107-2114.
43. Romero Y., Cameron A.J., Schaid D.J., McDonnell S.K., Burgart L.J., Hardtke C.L., Murray J.A., Locke G.R. Barrett's esophagus: prevalence in symptomatic relatives. Am J Gastroenterol 2002, 97:1127-1132.
44. Kala Z., Dolina J., Marek F., Izakovicova Holla L. Polymorphisms of glutathione S-transferase M1, T1 and P1 in patients with reflux esophagitis and Barrett's esophagus. J Hum Genet 2007, 52:527-534.
45. van Lieshout E.M., Roelofs H.M., Dekker S., Mulder C.J., Wobbes T., Jansen J.B., Peters W.H. Polymorphic expression of the glutathione S-transferase P1 gene and its susceptibility to Barrett's esophagus and esophageal carcinoma. Cancer Res 1999, 59:586-589.
46. Casson A.G., Zheng Z., Chiasson D., MacDonald K., Riddell D.C., Guernsey J.R., Guernsey D.L., McLaughlin J. Associations between genetic polymorphisms of Phase I and II metabolizing enzymes, p53 and susceptibility to esophageal adenocarcinoma. Cancer Detect Prev 2003, 27:139-146.
47. Casson A.G., Zheng Z., Porter G.A., Guernsey D.L. Genetic polymorphisms of microsomal epoxide hydroxylase and glutathione S-transferases M1, T1 and P1, interactions with smoking, and risk for esophageal (Barrett) adenocarcinoma. Cancer Detect Prev 2006, 30:423-431.
48. Murphy S.J., Hughes A.E., Patterson C.C., Anderson L.A., Watson R.G., Johnston B.T., Comber H., McGuigan J., Reynolds J.V., Murray L.J. A population-based association study of SNPs of GSTP1, MnSOD, GPX2 and Barrett's esophagus and esophageal adenocarcinoma. Carcinogenesis 2007, 28:1323-1328.
49. Bani-Hani K., Martin I.G., Hardie L.J., Mapstone N., Briggs J.A., Forman D., Wild C.P. Prospective study of cyclin D1 overexpression in Barrett's esophagus: association with increased risk of adenocarcinoma. J Natl Cancer Inst 2000, 92:1316-1321.
50. Murray L., Sedo A., Scott M., McManus D., Sloan J.M., Hardie L.J., Forman D., Wild C.P. TP53 and progression from Barrett's metaplasia to oesophageal adenocarcinoma in a UK population cohort. Gut 2006, 55:1390-1397.
51. Casson A.G., Zheng Z., Evans S.C., Geldenhuys L., van Zanten S.V., Veugelers P.J., Porter G.A., Guernsey D.L. Cyclin D1 polymorphism (G870A) and risk for esophageal adenocarcinoma. Cancer 2005, 104:730-739.
52. Geddert H., Kiel S., Zotz R.B., Zhang J., Willers R., Gabbert H.E., Sarbia M. Polymorphism of p16 INK4A and cyclin D1 in adenocarcinomas of the upper gastrointestinal tract. J Cancer Res Clin Oncol 2005, 131:803-808.
53. Izzo J.G., Malhotra U., Wu T.T., Ensor J., Babenko I.M., Swisher S.G., Correa A., Bresalier R.S., Hittelman W.N., Ajani J.A. Impact of cyclin D1 A870G polymorphism in esophageal adenocarcinoma tumorigenesis. Semin Oncol 2005, 32:S11-15.
54. Izzo J.G., Wu T.T., Wu X., Ensor J., Luthra R., Pan J., Correa A., Swisher S.G., Chao C.K., Hittelman W.N., et al. Cyclin D1 guanine/adenine 870 polymorphism with altered protein expression is associated with genomic instability and aggressive clinical biology of esophageal adenocarcinoma. J Clin Oncol 2007, 25:698-707.
55. Vasen H.F., Wijnen J.T., Menko F.H., Kleibeuker J.H., Taal B.G., Griffioen G., Nagengast F.M., Meijers-Heijboer E.H., Bertario L., Varesco L., et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996, 110:1020-1027.
56. Varley J.M., McGown G., Thorncroft M., Tricker K.J., Teare M.D., Santibanez-Koref M.F., Martin J., Birch J.M., Evans D.G. An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. J Med Genet 1995, 32:942-945.
57. La Vecchia C., Negri E., Franceschi S., Gentile A. Family history and the risk of stomach and colorectal cancer. Cancer 1992, 70:50-55.
58. Guilford P., Hopkins J., Harraway J., McLeod M., McLeod N., Harawira P., Taite H., Scoular R., Miller A., Reeve A.E. E-cadherin germline mutations in familial gastric cancer. Nature 1998, 392:402-405.
59. Grady W.M., Willis J., Guilford P.J., Dunbier A.K., Toro T.T., Lynch H., Wiesner G., Ferguson K., Eng C., Park J.G., et al. Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nat Genet 2000, 26:16-17.
60. Barber M., Murrell A., Ito Y., Maia A.T., Hyland S., Oliveira C., Save V., Carneiro F., Paterson A.L., Grehan N., et al. Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer. J Pathol 2008, 216:295-306.
61. Pharoah P.D., Guilford P., Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 2001, 121:1348-1353.
62. Correa P., Sasano N., Stemmermann G.N., Haenszel W. Pathology of gastric carcinoma in Japanese populations: comparisons between Miyagi prefecture. Japan and Hawaii. J Natl Cancer Inst 1973, 51:1449-1459.
63. Sakamoto H., Yoshimura K., Saeki N., Katai H., Shimoda T., Matsuno Y., Saito D., Sugimura H., Tanioka F., Kato S., et al. Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer. Nat Genet 2008, 40:730-740.
64. Lehtola J. Family study of gastric carcinoma; With special reference to histological types. Scand J Gastroenterol Suppl 1978, 50:3-54.
65. El-Omar E.M., Oien K., Murray L.S., El-Nujumi A., Wirz A., Gillen D., Williams C., Fullarton G., McColl K.E. Increased prevalence of precancerous changes in relatives of gastric cancer patients: critical role of H. pylori. Gastroenterology 2000, 118:22-30.
66. El-Omar E.M., Rabkin C.S., Gammon M.D., Vaughan T.L., Risch H.A., Schoenberg J.B., Stanford J.L., Mayne S.T., Goedert J., Blot W.J., et al. Increased risk of noncardia gastric cancer associated with proinflammatory cytokine gene polymorphisms. Gastroenterology 2003, 124:1193-1201.
67. Gianfagna F., De Feo E., van Duijn C.M., Ricciardi G., Boccia S. A systematic review of meta-analyses on gene polymorphisms and gastric cancer risk. Curr Genomics 2008, 9:361-374.
68. Loh M., Koh K.X., Yeo B.H., Song C.M., Chia K.S., Zhu F., Yeoh K.G., Hill J., Iacopetta B., Soong R. Meta-analysis of genetic polymorphisms and gastric cancer risk: variability in associations according to race. Eur J Cancer 2009, 45:2562-2568.
69. Kamangar F., Cheng C., Abnet C.C., Rabkin C.S. Interleukin-1B polymorphisms and gastric cancer risk-a meta-analysis. Cancer Epidemiol Biomark Prev 2006, 15:1920-1928.
70. Figueiredo C., Machado J.C., Pharoah P., Seruca R., Sousa S., Carvalho R., Capelinha A.F., Quint W., Caldas C., van Doorn L.J., et al. Helicobacter pylori and interleukin 1 genotyping: an opportunity to identify high-risk individuals for gastric carcinoma. J Natl Cancer Inst 2002, 94:1680-1687.
71. Correa P. Human gastric carcinogenesis: a multistep and multifactorial process-first American Cancer Society Award Lecture on Cancer Epidemiology and Prevention. Cancer Res 1992, 52:6735-6740.
72. Dinarello C.A. Immunological and inflammatory functions of the interleukin-1 family. Annu Rev Immunol 2009, 27:519-550.
73. El-Omar E.M. The importance of interleukin 1beta in Helicobacter pylori associated disease. Gut 2001, 48:743-747.
74. Gorouhi F., Islami F., Bahrami H., Kamangar F. Tumour-necrosis factor-A polymorphisms and gastric cancer risk: a meta-analysis. Br J Cancer 2008, 98:1443-1451.
75. Blount B.C., Mack M.M., Wehr C.M., MacGregor J.T., Hiatt R.A., Wang G., Wickramasinghe S.N., Everson R.B., Ames B.N. Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage. Proc Natl Acad Sci U S A 1997, 94:3290-3295.
76. Duthie S.J. Folic acid deficiency and cancer: mechanisms of DNA instability. Br Med Bull 1999, 55:578-592.
77. Boccia S., Hung R., Ricciardi G., Gianfagna F., Ebert M.P.A., Fang J.-Y., Gao C.-M., Gotze T., Graziano F., Lacasana-Navarro M., et al. Meta- and Pooled Analyses of the Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Gastric Cancer Risk: A Huge-GSEC Review. Am J Epidemiol 2008, 167:505-516.
78. van der Put N.M., Gabreels F., Stevens E.M., Smeitink J.A., Trijbels F.J., Eskes T.K., van den Heuvel L.P., Blom H.J. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?. Am J Hum Genet 1998, 62:1044-1051.
79. Friso S., Choi S.W., Girelli D., Mason J.B., Dolnikowski G.G., Bagley P.J., Olivieri O., Jacques P.F., Rosenberg I.H., Corrocher R., et al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci U S A 2002, 99:5606-5611.
80. Shirvani V.N., Ouatu-Lascar R., Kaur B.S., Omary M.B., Triadafilopoulos G. Cyclooxygenase 2 expression in Barrett's esophagus and adenocarcinoma: ex vivo induction by bile salts and acid exposure. Gastroenterology 2000, 118:487-496.
81. Williams G.H., Swinn R., Prevost A.T., De Clive-Lowe P., Halsall I., Going J.J., Hales C.N., Stoeber K., Middleton S.J. Diagnosis of oesophageal cancer by detection of minichromosome maintenance 5 protein in gastric aspirates. Br J Cancer 2004, 91:714-719.