Genetic factors in the pathogenesis of cholangiocarcinoma

Digestive Diseases

Volumn 29, Issue 1, 2011, Pages 93-97

  Wadsworth, Christopher A ^a   Dixon, Peter H ^b   Wong, Jason H ^a   Chapman, Michael H ^c   McKay, Siobhan C ^a   Sharif, Amar ^a   Spalding, Duncan R ^a   Pereira, Stephen P ^c   Thomas, Howard C ^a   Taylor Robinson, Simon D ^a   Whittaker, John ^d   Williamson, Catherine ^b   Khan, Shahid A ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b Institute of Reproductive and Developmental Biology   (United Kingdom)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^d LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

Author keywords

ABCB11; ABCB4; ABCC2; ATP8B1; Cholangiocarcinoma; Genetics; NR1H4

Indexed keywords

ABC TRANSPORTER; FARNESOID X RECEPTOR; MULTIDRUG RESISTANCE PROTEIN 2; MULTIDRUG RESISTANCE PROTEIN 3; PROTEIN BSEP; PROTEIN FIC1; UNCLASSIFIED DRUG;

BILE DUCT CARCINOMA; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA DETERMINATION; GENE LOCUS; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

BILE CANALICULI; BILIARY TRACT DISEASES; CHOLANGIOCARCINOMA; ENVIRONMENTAL POLLUTANTS; HUMANS; MEMBRANE TRANSPORT PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79959496013     PISSN: 02572753     EISSN: 14219875     Source Type: Journal    
DOI: 10.1159/000324688     Document Type: Conference Paper

References (43)

1. de Groen PC, Gores GJ, LaRusso NF, Gunderson LL, Nagorney DM: Biliary tract ca ncers. N Engl J Med 1999; 341: 1368-1378.
2. Durand-Fardel M: Recherches anat-path. Sur la vesicule et les canaux biliaires. Arch gen de Med 1840;viii:167.
3. Taylor-Robinson SD, Toledano MB, Arora S, Keegan TJ, Hargreaves S, Beck A, Khan SA, Elliott P, Thomas HC: Increase in mortality rates from intrahepatic cholangiocarcinoma in England and Wales 1968-1998. Gut 2001; 48:816-820. (Pubitemid 32479209)
4. Khan SA, Davidson BR, Goldin R, Pereira SP, Rosenberg WM, Taylor-Robinson SD, Thillainayagam AV, Thomas HC, Thursz MR, Wasan H: Guidelines for the diagnosis and treatment of cholangiocarcinoma: consensus document. Gut 2002; 51(suppl 6): VI1-VI9. (Pubitemid 35216840)
5. Khan SA, Thomas HC, Davidson BR, Taylor-Robinson SD: Cholangiocarcinoma. Lancet 2005; 366: 1303-1314. (Pubitemid 41416587)
6. Shaib Y, El-Serag HB: The epidemiology of cholangiocarcinoma. Semin Liver Dis 2004; 24:115-125. (Pubitemid 38738341)
7. Scheimann AO, Strautnieks SS, Knisely AS, Byrne JA, Thompson RJ, Finegold MJ: Mutations in bile salt export pump (ABCB11) in two children with progressive familial intra-hepatic cholestasis and cholangiocarcinoma. J Pediatr 2007; 150:556-559. (Pubitemid 46602338)
8. Shaib YH, Davila JA, Henderson L, McGlynn KA, El-Serag HB: Endoscopic and surgical therapy for intrahepatic cholangio-carcinoma in the United States: a population-based study. J Clin Gastroenterol 2007; 41:911-917. (Pubitemid 350307078)
9. Ortner MA: Photodynamic therapy for chol-angiocarcinoma: overview and new developments. Curr Opin Gastroenterol 2009; 25: 472-476.
10. Sahani D, Prasad SR, Tannabe KK, Hahn PF, Mueller PR, Saini S: Thorotrast-induced cholangiocarcinoma: case report. Abdom Imaging 2003; 28:72-74. (Pubitemid 36460666)
11. Welzel TM, Graubard BI, El-Serag HB, Shaib YH, Hsing AW, Davila JA, McGlynn KA: Risk factors for intrahepatic and extrahepatic cholangiocarcinoma in the United States: a population-based case-control study. Clin Gastroenterol Hepatol 2007; 5:1221-1228. (Pubitemid 47496233)
12. Welzel TM, Mellemkjaer L, Gloria G, Sakoda LC, Hsing AW, El Ghormli L, Olsen JH, McGlynn KA: Risk factors for intrahepatic cholangiocarcinoma in a low-risk population: a nationwide case-control study. Int J Cancer 2007; 120: 638-641. (Pubitemid 46001359)
13. Shaib YH, El-Serag HB, Nooka AK, Thomas M, Brown TD, Patt YZ, Hassan MM: Risk factors for intrahepatic and extrahepatic cholangiocarcinoma: a hospital-based case-control study. Am J Gastroenterol 2007; 102: 1016-1021. (Pubitemid 46698225)
14. Tao LY, He XD, Qu Q, Cai L, Liu W, Zhou L, Zhang SM: Risk factors for intrahepatic and extrahepatic cholangiocarcinoma: a case-control study in China. Liver Int 2010; 30: 215-221.
15. Grainge MJ, West J, Solaymani-Dodaran M, Aithal GP, Card TR: The antecedents of biliary cancer: a primary care case-control study in the United Kingdom. Br J Cancer 2009; 100:178-180.
16. Hardell L, Bengtsson NO, Jonsson U, Eriksson S, Larsson LG: Aetiological aspects on primary liver cancer with special regard to alcohol, organic solvents and acute intermittent porphyria - an epidemiological investigation. Br J Cancer 1984; 50: 389-397.
17. Khan SA, Carmichael PL, Taylor-Robinson SD, Habib N, Thomas HC: DNA adducts, detected by 32P postlabelling, in human chola ngioca rcinoma. Gut 2003; 52: 586-591.
18. McLean L, Patel T: Racial and ethnic variations in the epidemiology of intrahepatic cholangiocarcinoma in the United States. Liver Int 2006; 26: 1047-1053. (Pubitemid 44541745)
19. Mecklin JP, Jarvinen HJ, Virolainen M: The association between cholangiocarcinoma and hereditary nonpolyposis colorectal carcinoma. Cancer 1992; 69:1112-1114.
20. Lee SS, Kim MH, Lee SK, Jang SJ, Song MH, Kim KP, Kim HJ, Seo DW, Song DE, Yu E, Lee SG, Min YI: Clinicopathologic review of 58 patients with biliary papillomatosis. Cancer 2004; 100:783-793. (Pubitemid 38176857)
21. Jacquemin E: Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases. Semin Liver Dis 2001; 21:551-562. (Pubitemid 33131047)
22. Thompson R, Strautnieks S: BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis 2001; 21:545-550. (Pubitemid 33131046)
23. Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikci B, Ozcay F, Laszlo A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Nemeth A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawlowska J, Melin-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ: Hepatocellular carcinoma in ten children under five years of age with bile salt export pump def iciency. Hepatology 2006; 44: 478-486. (Pubitemid 44214888)
24. Meier Y: Hepatocellular malignancy in ABCB11/BStP disease (progressive familial intrahepatic cholestasis, type 2): four patients. Hepatology 2004; 40S:471A.
25. Rosmorduc O, Hermelin B, Boelle PY, Parc R, Taboury J, Poupon R: ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 2003; 125:452-459. (Pubitemid 36929427)
26. Lucena JF, Herrero JI, Quiroga J, Sangro B, Garcia-Foncillas J, Zabalegui N, Sola J, Herraiz M, Medina JF, Prieto J: A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003; 124:1037-1042. (Pubitemid 36389806)
27. -/- mice: a model for low phospholipid-associated cholelithiasis. Hepatology 2004; 39:117-128. (Pubitemid 38461474)
28. van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW: Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004; 127: 379-384. (Pubitemid 39091885)
29. Dixon PH, van Mil SW, Chambers J, Strautnieks S, Thompson RJ, Lammert F, Kubitz R, Keitel V, Glantz A, Mattsson LA, Marschall HU, Molokhia M, Moore GE, Linton KJ, Williamson C: Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut 2009; 58: 537-544.
30. Pauli-Magnus C, Kerb R, Fattinger K, Lang T, Anwald B, Kullak-Ublick GA, Beuers U, Meier PJ: BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis. Hepatology 2004; 39:779-791. (Pubitemid 38337658)
31. Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, Lie BA, Bergquist A, Schramm C, Weismuller TJ, Gotthardt D, Rust C, Philipp EE, Fritz T, Henckaerts L, Weersma RK, Stokkers P, Ponsioen CY, Wijmenga C, Sterneck M, Nothnagel M, Hampe J, Teufel A, Runz H, Rosenstiel P, Stiehl A, Vermeire S, Beuers U, Manns MP, Schrumpf E, Boberg KM, Schreiber S: Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology 2010; 138: 1102 - 1111.
32. Marahatta SB, Punyarit P, Bhudisawasdi V, Paupairoj A, Wongkham S, Petmitr S: Polymorphism of glutathione S-transferase omega gene and risk of cancer. Cancer Lett 2006; 236:276-281.
33. Wiencke K, Louka AS, Spurkland A, Vatn M, Schrumpf E, Boberg KM: Association of matrix metalloproteinase-1 and -3 promoter polymorphisms with clinical subsets of Norwegian primary sclerosing cholangitis patients. J Hepatol 2004; 41:209-214. (Pubitemid 39177623)
34. Ko KH, Kim NK, Yim DJ, Hong SP, Park PW, Rim KS, Kim S, Hwang SG: Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population. Anticancer Res 2006; 26: 4229-4233. (Pubitemid 46031496)
35. Prawan A, Kukongviriyapan V, Tassaneeyakul W, Pairojkul C, Bhudhisawasdi V: Association between genetic polymorphisms of CYP1A2, arylamine N-acetyltransferase 1 and 2 and susceptibility to cholangiocarcinoma. Eur J Cancer Prev 2005; 14:245-250. (Pubitemid 40780448)
36. Fingas CD, Katsounas A, Kahraman A, Siffert W, Jochum C, Gerken G, Nuckel H, Canbay A: Prognostic assessment of three single-nucleotide polymorphisms (GNB3825C>T, BCL2-938C>A, MCL1-386C>G) in extrahepatic cholangiocarcinoma. Cancer Invest 2010; 28:472-478.
37. Melum E, Karlsen TH, Schrumpf E, Bergquist A, Thorsby E, Boberg KM, Lie BA: Cholangiocarcinoma in primary sclerosing cholangitis is associated with NKG2D polymorphisms. Hepatology 2008; 47:90-96. (Pubitemid 351171045)
38. Hoblinger A, Grunhage F, Sauerbruch T, Lammert F: Association of the c.3972C>T variant of the multidrug resistance-associated protein 2 Gene (MRP2/ABCC2) with susceptibility to bile duct cancer. Digestion 2009; 80:36-39.
39. Dougherty CP, Holtz SH, Reinert JC, Panyacosit L, Axelrad DA, Woodruff TJ: Dietary exposures to food contaminants across the United States. Environ Res 2000; 84:170-185.
40. Kjeller LO, Jones KC, Johnston AE, Rappe C: Increases in the polychlorinated dibenzo-Pdioxin and dibenzo-P-furan content of soils and vegetation since the 1840s. Environ Sci Technol 1991; 25:1619-1627.
41. Alcock RE, Johnston AE, Mcgrath SP, Berrow ML, Jones KC: Long-term changes in the polychlorinated biphenyl content of United Kingdom soils. Environ Sci Technol 1993; 27: 1918-1923.
42. Trauner M, Boyer JL: Bile salt transporters: molecular characterization, function, and regulation. Physiol Rev 2003; 83:633-671. (Pubitemid 36378680)
43. Pauli-Magnus C, Stieger B, Meier Y, Kullak-Ublick GA, Meier PJ: Enterohepatic transport of bi le salts and genetics of cholestasis. J Hepatol 2005; 43:342-357. (Pubitemid 40956889)