Tumor spectrum in Lynch Syndrome, DNA mismatch repair system and endogenous carcinogens

Journal of Surgical Oncology

Volumn 106, Issue 1, 2012, Pages 10-16

  Medina Arana, Vicente ^a   Delgado, Luciano ^a   Bravo, Alberto ^a   Martín, Juana ^a   Fernández Peralta, Antonia M ^b   González Aguilera, Juan J ^b  

^a HOSPITAL UNIVERSITARIO DE CANARIAS   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Bile acids; Endogenous carcinogens; Estrogens; Lynch Syndrome; Tumor spectrum

Indexed keywords

BILE ACID; ESTROGEN;

ALLELE; CANCER CELL CULTURE; CANCER INCIDENCE; CANCER PATIENT; CANCER RISK; DNA REPLICATION; EPITHELIUM CELL; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HEREDITY; HETEROZYGOSITY; HUMAN; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SOMATIC MUTATION; WILD TYPE;

BILE ACIDS AND SALTS; CARCINOGENS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; ESTROGENS; GENOTYPE; HUMANS; MICROSATELLITE INSTABILITY; MUTATION; PHENOTYPE;

EID: 84862791306     PISSN: 00224790     EISSN: 10969098     Source Type: Journal    
DOI: 10.1002/jso.23054     Document Type: Review

References (93)

1. Lynch HT, Smyrk T: Hereditary non polyposis colorectal cancer (Lynch Syndrome). An updated review. Cancer 1996;76:1149-1167. (Pubitemid 26303880)
2. Warthin A: Classics in Oncology. Heredity with reference to carcinoma as shown by the study the cases examinated in pathological laboratory of the University of Michigan 1895-1913. CA Cancer J Clin 1985;35:348-359.
3. Lynch HT: Hereditary factors in cancer: Study of two large Midwestern kindreds. Arch Intern Med 1966;117:206-212.
4. Douglas JA, Gruber SB, Meister KA, et al.: History and molecular genetics of Lynch Syndrome in Family G: A century later. JAMA 2005;294:2195-2202. (Pubitemid 41571137)
5. Boland CR, Troncale FJ: Familial colonic cancer without antecedent polyposis. Ann Intern Med 1984;100:700-701. (Pubitemid 14143948)
6. Lynch T: Classics in oncology. Aldred Scott Warthin, M.D., P.D. 1866-1931. CA Cancer J Clin 1985;35:345-347.
7. VaseL HF, Mecklin JP, Khan JP, et al.: The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1990;34:424-425.
8. Vasen H, Watson P, Mecklin JP, et al.: New clinical criteria for hereditary non polyposis colorectal cancer (HNPCC, Lynch Syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 1999;116:1453-1456. (Pubitemid 29258894)
9. Umar A, Boland R, Terdiman JP, et al.: Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch Syndrome) and microsatellite instability. J Nat Cancer Inst 2004;96:261-268. (Pubitemid 38256271)
10. Lipton LR, Johnson V, Cummings C, et al.: Refining the Amsterdam criteria and Bethesda guidelines: Testing algorithms for the prevention of mismatch repair mutation status in the familial cancer clinic. J Clin Oncol 2004;22:4934-4943. (Pubitemid 46638618)
11. Lynch HT, Lanspa S, Smyrk T, et al.: Hereditary non-polyposis colorectal cancer (Lynch syndrome I & II). Genetics, pathology, natural history and cancer control, part I. Cancer Genet Cytogenet 1991;53:43-160.
12. Mecklin JP, Järvinen HJ: Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum 1986;29:160-164.
13. Lynch HT, Watson P, Lanspa SJ, et al.: Natural history of colorectal cancer in hereditary non-polyposis colorectal cancer (Lynch syndromes I and II). Dis Colon Rectum 1998;31:439-444.
14. Lynch HT, Smyrk TC, Watson P, et al.: Genetics, natural history, tumor spectrum and pathology of hereditary non-polyposis colorectal cancer: An updated review. Gastroenterology 1993;104:1535-1549. (Pubitemid 23235432)
15. Mecklin JP, Järvinen HJ, Peltokallio P: Cancer family syndrome. Genetics analysis of 22 Finnish kindreds. Gastroenterology 1986;90:328-333. (Pubitemid 16136672)
16. Watson P, Lynch HT: Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993;71:677-685. (Pubitemid 23051366)
17. Lynch HT, Lynch J: Lynch syndrome: Genetics natural history, genetics counseling and Prevention. J Clin Oncol 2000;18:19s-31s.
18. Wasielewski M, Riaz M, Venmeulen J, et al.: Association of rare MSH6 variants with familial breast cancer. Breast Cancer Res Treat 2010;123:315-320.
19. Soravia C, Klift H, Brunder MA, et al.: Prostate cancer is part of the hereditary non-polyosis colorectal cancer (HNPCC) tumor spectrum. Am J Med Genet 2003;121A:159.
20. Sijmons R, Hofstra R, HIollerna I, et al.: Inclusion of malignant fibrous histiocytoma the tumor spectrum associated with hereditary non-poliposis colorectal cancer. Genes Chromosomes Cancer 2000;29:353-355.
21. Medina-Arana V, Barrios del Pino Y, García-Castro C, et al.: Highly aggressive leiomyosarcoma associated with Lynch II syndrome: Increasing the range of extracolonic cancers related with hereditary non-poliposis cancer. Ann Oncol 2002;13:807-808.
22. Medina-Arana V, Delgado L, González L, et al.: Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome. Fam Cancer 2011;10:265-271.
23. Modrich P, Lahue L: Mismatch repair in replication fidelity, genetic recombination, and cancer biology. Annu Rev Biochem 1996;65:101-133. (Pubitemid 26250606)
24. Hsieh P, Yamane K: DNA mismatch repair: Molecular mechanisms, cancer and ageing. Mech Ageing Dev 2008;129:391-407.
25. Jascur T, Boland R: Structure and function of the components of the human DNA mismatch repair system. Int J Cancer 2006;119:2030-2035. (Pubitemid 44423658)
26. Li GM: Mechanisms and functions of DNA mismatch repair. Cell Res 2008;18:85-98.
27. Modrich P: Mechanisms in eukaryotic mismatch repair. J Biol Chem 2006;281:30305-30309.
28. Fishel R: Mismatch repair, molecular switches and signal transduction. Genes Dev 1998;12:2096-2101.
29. Peters AC, Young LC, Maegda T, et al.: Mammalian DNA mismatch repair protects cells from UVB-induced DNA damage by facilitating apoptosis and p53 activation. DNA Repair 2003;2:427-435. (Pubitemid 36246469)
30. Knudson A: Mutation and cancer: Statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971;68:820-823.
31. Fishel R, MK Rao MR, Copeland NG, et al.: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993;75:1027-1038.
32. Leach FS, Nicolaides NC, Papadopoulos N, et al.: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993;75:1215-1225. (Pubitemid 24006117)
33. Peltomäki P: Lynch syndrome genes. Fam Cancer 2005;4:227-232.
34. Korhonen MK, Raevaara TE, Lohi H, et al.: Conditional nuclear localization of hMLH3 suggests a minor activity in mismatch repair and supports its role as a low-risk gene in HNPCC. Oncol Rep 2007;17:351-354.
35. Levinson G, Gutman GA: High frequencies of short frameshifts in poly-CA/TG tandem repeats borne by bacteriophage M13 in Escherichia coli K-12. Nucleic Acids Res 1987;15:5323-5338.
36. Loeb LA, Bielas JH, Beckman RA: Cancers exhibit a mutator phenotype: Clinical implications. Cancer Res 2008;68:3551-3557.
37. Boland CR, Thibodeau SN, Hamilton SR, et al.: A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5245-5248.
38. González-Aguilera JJ, Nejda N, Fernández FJ, et al.: Genetic alterations and MSI status in primary, synchronous, and metachronous tumors in a family with hereditary nonpolyposis colorectal cancer (HNPCC). Am J Clin Oncol 2003;26:386-391. (Pubitemid 36962084)
39. Gomes-Pereira M, Fortune MT, Monckton DG: Mouse tissue culture models of un table triplet repeats: In vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates. Hum Mol Genet 2001;10:845-854. (Pubitemid 32331595)
40. Thornton CA, Johnson KJ, Moxley RT: Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neuro 1994;35:104-107. (Pubitemid 24027613)
41. Shah SN, Hile SE, Eckert KA: Defective mismatch repair, microsatellite mutation bias, and variability in clinical cancer phenotypes. Cancer Res 2010;70:431-435.
42. Clyne M, Offman J, Shanley S, et al.: The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome. Br J Cancer 2009;100:376-380.
43. Foulkes WD, Thiffault I, Gruber SB, et al.: The founder mutation MSH2*1906G→C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet 2002;71:1395-1412. (Pubitemid 36015893)
44. Kinzler KW, Vogelstein B: Landscaping the cancer terrain. Science 1998;280:1036-1037. (Pubitemid 28234937)
45. Mecklin JP, Järvinen HJ: Tumor spectrum in cancer family syndrome (hereditary non-polyposis colorectal cancer). Cancer 1991;68:1109-1112.
46. Williams JA: Single nucleotide polymorphisms, metabolic activation and environmental carcinogenesis: Why molecular epidemiologists should think about enzyme expression. Carcinogenesis 2001;22:209-214.
47. Peltomaki P: Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 2003;21:1174-1179.
48. Kullak-Ublick GA, Stieger B, Meier P: Enterohepatic bile salt transporters in normal physiology and liver disease. Gastroenterology 2004;126:322-342. (Pubitemid 38040747)
49. Bernstein H, Bernstein C, Payne CM, et al.: Bile acids as carcinogens in human gastrointestinal cancers. Mutat Res 2005;589:47-65. (Pubitemid 40094591)
50. Bernstein H, Bernstein C, Payne CM, et al.: Bile acids as endogenous etiologic agents in gastrointestinal cancer. World J Gastroenterol 2009;15:3329-3340.
51. Kulkarni MS, Yielding KL: DNA damage and repair in epithelial (mucous) cells and crypt cells from isolated colon. Chem Biol Interact 1985;52:311-318. (Pubitemid 15165133)
52. Ogawa A, Murate T, Suzuki M, et al.: Lithocholic acid, a putative tumor promoter, inhibits mammalian DNA polymerase b. Jpn J Cancer Res 1998;89:1154-1159. (Pubitemid 29007996)
53. Qiao D, Gaitonde SV, Qi W, et al.: Deoxycholic acid suppresses p53 by stimulating proteasome-mediated p53 protein degradation. Carcinogenesis 2001;22:957-964. (Pubitemid 32514964)
54. Chang CL, Marra G, Chauhan DP, et al.: Oxidative stress inactivates the human mismatch repair system. Am J Physiol Cell Physiol 2002;283:C148-C154. (Pubitemid 34670558)
55. Jackson AL, Chen R, Loeb LA: Induction of microsatellite instability by oxidative DNA damage. Proc Natl Acad Sci USA 1998;95:12468-12473. (Pubitemid 28483788)
56. Reddy BS, Hanson D, Mangat S, et al.: Effect of high-fat, high-beef diet and of mode of cooking of beef in the diet on fecal bacterial enzymes and fecal bile acids and neutral sterols. J Nutr 1980;110:1880-1887. (Pubitemid 11192419)
57. Narahara H, Tatsuta M, Lishi H, et al.: K-ras point mutation is associated with enhancement by deoxycholic acid of colon carcinogenesis induced by azoxymethane, but not with its attenuation by all-trans-retinoic acid. Int J Cancer 2000;88:157-161.
58. Payne CM, Bernstein C, Dvorak K, et al.: Hydrophobic bile acids, genomic instability, Darwinian selection, and colon carcinogenesis. Clin Exp Gastroenterol 2008;1:19-47.
59. Bernstein H, Holubec H, Warneke JA, et al.: Patchy field defects of apoptosis resistance and dedifferentiation in flat mucosa of colon resections from colon cancer patients. Ann Surg Oncol 2002;9:505-517. (Pubitemid 34625813)
60. Lechner S, Müller-Ladner U, Schlottmann K, et al.: Bile acids mimic oxidative stress induced upregulation of thioredoxin reductase in colon cancer cell lines. Carcinogenesis 2002;23:1281-1288.
61. Redlak MJ, Dennis MS, Miller TA: Apoptosis is a major mechanism of deoxycholate-induced gastric mucosal cell death. Am J Physiol Gastrointest Liver Physiol 2003;285:G870-G879. (Pubitemid 37310066)
62. Redinger RN: The coming of age of our understanding of the enterohepatic circulation of bile salts. Am J Surg 2003;185:168-172.
63. Hollenbeck AR, Schatzkin A: A prospective study of meat and fat intake in relation to small intestinal cancer. Cancer Res 2008;68:9274-9279.
64. Lagergren J, Ye W, Ekbom A: Intestinal cancer after cholecystectomy: Is bile involved in carcinogenesis? Gastroenterology 2001;121:542-547. (Pubitemid 32822568)
65. Fischer HP, Zhou H: Pathogenesis of carcinoma of the papilla of Vater. J Hepatobiliary Pancreat Surg 2004;11:301-309.
66. Sokol RJ, McKim JM, Jr, Goff MC, et al.: Vitamin E reduces oxidant injury to mitochondria and the hepatotoxicity of taurochenodeoxycholic acid in the rat. Gastroenterology 1998;114:164-174. (Pubitemid 28020966)
67. Cameron RG, Imaida K, Tsuda H, et al.: Promotive effects of steroids and bile acids on hepatocarcinogenesis initiated by diethylnitrosamine. Cancer Res 1982;42:2426-2428. (Pubitemid 12121468)
68. Ohtaki Y, Hida T, Hiramatsu K, et al.: Deoxycholic acid as an endogenous risk factor for hepatocarcinogenesis and effects of gomisin A, a lignan component of Schizandra fruits. Anticancer Res 1996;16:751-755. (Pubitemid 26182005)
69. Yang F, Huang X, Yi T, et al.: Spontaneous development of liver tumors in the absence of the bile acid receptor farnesoid X receptor. Cancer Res 2007;67:863-867.
70. Knisely AS, Strautnieks SS, Meier Y, et al.: Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 2006;44:478-486. (Pubitemid 44214888)
71. Adachi T, Tajima Y, Kuroki T, et al.: Bile-reflux into the pancreatic ducts is associated with the development of intraductal papillary carcinoma in hamsters. J Surg Res 2006;136:106-111. (Pubitemid 44634550)
72. Dvorak K, Payne CM, Chavarria M, et al.: Bile acids in combination with low pH induce oxidative stress and oxidative DNA damage: Relevance to the pathogenesis of Barrett's oesophagus. Gut 2007;56:763-771. (Pubitemid 46854189)
73. Gasche C, Chang CL, Rhees J, et al.: Oxidative stress increases frameshift mutations in human colorectal cancer cells. Cancer Res 2011;61:7444-7448.
74. Thomas LA, Veysey MJ, French G, et al.: Bile acid metabolism by fresh human colonic contents: A comparison of caecal versus faecal samples. Gut 2001;49:835-842. (Pubitemid 33096042)
75. Ferreira AM, Westers H, Albergaria A, et al.: Estrogens, MSI and Lynch syndrome-associated tumors. Biochim Biophys Acta 2009;1796:194-200.
76. International Agency for Research on Cancer: Salted fish. In: IARC Monographs on the evaluation of carcinogenic risks to humans. Supplement 7, France: Lyon; 1987; pp. 280-285.
77. Russo J, Russo IH: The role of estrogen in the initiation of breast cancer. J Steroid Biochem Mol Biol 2006;102:89-96. (Pubitemid 44750629)
78. Salama SA, Kamel M, Awad M, et al.: Catecholestrogens induce oxidative stress and malignant transformation in human endometrial glandular cells: Protective effect of catechol-Omethyltransferase. Int J Cancer 2008;123:1246-1254.
79. Zhu BT, Conney AH: Functional role of estrogens metabolism in target cell: Review and perspectives. Carcinogenesis 1998;19:1-27. (Pubitemid 28376821)
80. Liehr JG: Role of DNA adducts in hormonal carcinogenesis. Regul Toxicol Pharmacol 2002;32:276-282.
81. Cavalieri EL, Stack DE, Devanesan PD, et al.: Molecular origin of cancer: Catechol estrogen-3,4-quinones as endogenous tumor initiators. Proc Natl Acad Sci USA 1997;94:10937-10942. (Pubitemid 27430839)
82. Yage JD, Liehr JG: Molecular mechanisms of estrogen carcinogenesis. Annu Rev Pharmacol Toxicol 1996;36:203-232.
83. Thompson EW, Reich R, Shima TB, et al.: Differential regulation of growth and invasiveness of MCF7 breast cancer cells by antiestrogens. Cancer Res 1998;48:6764-6788.
84. Notarnicola M, Gristina R, Messa C, et al.: Oestrogen receptors and microsatellite instability in colorectal carcinoma patients. Cancer Lett 2001;168:65-70. (Pubitemid 32463914)
85. Issa JP, Ottaviano YL, Celano P, et al.: Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon. Nat Genet 1994;7:536-540. (Pubitemid 24308343)
86. Slattery ML, Potter JD, Curtin K, et al.: Estrogens reduce and withdrawal of estrogens increase risk of microsatellite instability-positive colon cancer. Cancer Res 2001;61:126-130. (Pubitemid 32095709)
87. Baylin SB, Herman JG: DNA hypermethylation in tumorigenesis: Epigenetics joins genetics. Trends Genet 2000;16:168-174. (Pubitemid 30169152)
88. Newcomb PA, Zheng Y, Chia VM, et al.: Estrogen plus progestin use, microsatellite instability, and the risk of colorectal cancer in women. Cancer Res 2007;67:7534-7539. (Pubitemid 47206584)
89. Miyamoto T, Shiozawa T, Kashima H, et al.: Estrogen upregulates mismatch repair activity in normal and malignantendometrial glandular cells. Endocrinology 2006;147:4863-4870. (Pubitemid 44402193)
90. Fathalla MF: Incessant ovulation-A factor in ovarian neoplasia? Lancet 1971;2:163.
91. Eisen A, Weber BL: Primary peritoneal carcinoma can have multifocal origins: Implications for prophylactic oophorectomy. J Natl Cancer Inst 1998;90:797-999.
92. Enmark E, Pelto-Huikko M, Grandien K, et al.: Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern. J Clin Endocrinol Metab 1997;82:4258-4265. (Pubitemid 27525550)
93. Yager JD: Endogenous estrogens as carcinogens through metabolic activation. J Natl Cancer Inst Monogr 2000;27:67-73.