Mitochondrial D310 mutations in colorectal adenomas: An early but not causative genetic event during colorectal carcinogenesis

International Journal of Cancer

Volumn 122, Issue 10, 2008, Pages 2242-2248

  Legras, Antoine ^a   Lièvre, Astrid ^a   Bonaiti Pellié, Catherine ^a,b   Cottet, Vanessa ^c,d   Pariente, Alexandre ^e   Nalet, Bernard ^f   Lafon, Jacques ^f   Faivre, Jean ^c,d   Bonithon Kopp, Ciaire ^c,d   Goasguen, Nicolas ^a,g   Penna, Christophe ^g,h   Olschwang, Sylviane ⁱ   Laurent Puig, Pierre ^a,j,k   Berthelemy P ^l   Cassan, P ^l   Glikmanas, M ^l   Gatineau Sailliant, G ^l   Courrier, A ^l   Pillon, D ^l   Michalet, J P ^l   Latrive, J P ^l   Guillan, J ^l   Blanchi, A ^l   Bour, B ^l   Morin, T ^l   Druart, F ^l   Legoux, J L ^l   Labarriere D ^l   Naudy, B ^l   Goldfain, D ^l   Rotenberg, A ^l   Bories, C ^l   Andrieu, J ^l   Doll, J ^l   Staub, J L ^l   more..

^a INSERM   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c boulevard Jeanne d'Arc   (France)

^d UNIVERSITÉ DE BOURGOGNE   (France)

^e CENTRE HOSPITALIER DE PAU   (France)

^f CENTRE HOSPITALIER   (France)

^g HÔPITAL AMBROISE PARÉ   (France)

^h LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

ⁱ INSTITUT PAOLI CALMETTES   (France)

^j HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^k UNIVERSITÉ PARIS DESCARTES   (France)

^l UFR Pierre Laurent Puig des Saints Pères ^*

more..

Author keywords

Colorectal cancer; Mitochondrial DNA; Mutation; Polymorphism; Risk factor

Indexed keywords

BIOLOGICAL MARKER; CYTOSINE; MITOCHONDRIAL DNA;

AGED; ARTICLE; CANCER PATIENT; CANCER RISK; CARCINOGENESIS; COLORECTAL ADENOMA; COLORECTAL CARCINOGENESIS; CONTROLLED STUDY; EARLY DIAGNOSIS; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GERM LINE; HUMAN; HUMAN TISSUE; LIVER METASTASIS; MAJOR CLINICAL STUDY; MALE; MITOCHONDRION; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR; SOMATIC MUTATION; ADENOMA; CASE CONTROL STUDY; CLINICAL TRIAL; COLORECTAL TUMOR; COMPARATIVE STUDY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; LIVER TUMOR; METASTASIS; MULTICENTER STUDY; MUTATION; PATHOLOGY; POLYMERASE CHAIN REACTION;

ADENOMA; AGED; CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS; DNA, MITOCHONDRIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GERM-LINE MUTATION; HUMANS; LIVER NEOPLASMS; MALE; POLYMERASE CHAIN REACTION; RISK FACTORS;

EID: 42149150952     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.23370     Document Type: Article

References (58)

1. Boyle P, Ferlay J. Cancer incidence and mortality in Europe, 2004. Ann Oncol 2005;16:481-8.
2. Vogelstein B, Fearon ER, Hamilton SR, Kern SE, Preisinger AC, Leppert M, Nakamura Y, White R, Smits AM. Bos JL. Genetic alterations during colorectal-tumor development. N Engl J Med 1988;319:525-32.
3. Attardi G, Schatz G. Biogenesis of mitochondria. Annu Rev Cell Biol 1988;4:289-333.
4. Zamzami N, Kroemer G. The mitochondrion in apoptosis: how Pandora's box opens. Nat Rev Mol Cell Biol 2001;2:67-71.
5. Schumacher HR, Szekely IE, Patel SB, Fisher DR. Mitochondria: a clue to oncogenesis? Lancet 1973;2:327.
6. Wilkie D, Egilsson V, Evans IH. Letter: mitochondria in oncogenesis. Lancet 1975;1:697-8.
7. Warburg O. On the origin of cancer cells. Science 1956;123:309-14.
8. Wilkie D, Evans IH, Egilsson V, Diala ES, Collier D. Mitochondria, cell surface, and carcinogenesis. Int Rev Cytol Suppl 1983;15:157-89.
9. Schwartz M, Vissing J. No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations. J Neurol Sci 2004;218:99-101.
10. Marcelino LA, Thilly WG. Mitochondrial mutagenesis in human cells and tissues. Mutat Res 1999;434:177-203.
11. Wallace DC. Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci USA 1994;91:8739-46.
12. Chatterjee A, Mambo E, Sidransky D. Mitochondrial DNA mutations in human cancer. Oncogene 2006;25:4663-74.
13. Penta JS, Johnson FM, Wachsman JT, Copeland WC. Mitochondrial DNA in human malignancy. Mutat Res 2001;488:119-33.
14. Alonso A, Martin P, Albarran C, Aquilera B, Garcia O, Guzman A, Oliva H, Sancho M. Detection of somatic mutations in the mitochondrial DNA control region of colorectal and gastric tumors by heteroduplex and single-strand conformation analysis. Electrophoresis 1997;18:682-5.
15. Guleng G, Lovig T, Meling GI, Andersen SN, Rognum TO. Mitochondrial microsatellite instability in colorectal carcinomas - frequency and association with nuclear microsatellite instability. Cancer Lett 2005;219:97-103.
16. Habano W, Nakamura S, Sugai T. Microsatellite instability in the mitochondrial DNA of colorectal carcinomas: evidence for mismatch repair systems in mitochondrial genome. Oncogene 1998;17:1931-7.
17. Habano W, Sugai T, Yoshida T, Nakamura S. Mitochondrial gene mutation, but not large-scale deletion, is a feature of colorectal carcinomas with mitochondrial microsatellite instability. Int J Cancer 1999;83:625-9.
18. Lee HC, Yin PH, Lin JC, Wu CC, Chen CY, Wu CW, Chi CW, Tarn TN, Wei YH. Mitochondrial genome instability and mtDNA depletion in human cancers. Ann NY Acad Sci 2005;1042:109-22.
19. Lievre A, Chapusot C, Bouvier AM, Zinzindohoue F, Piard F, Roignot P, Arnould L, Beaune P, Faivre J, Laurent-Puig P. Clinical value of mitochondrial mutations in colorectal cancer. J Clin Oncol 2005;23:3517-25.
20. Polyak K, Li Y, Zhu H, Lengauer C, Willson JK, Markowitz SD, Trush MA, Kinzler KW, Vogelstein B. Somatic mutations of the mitochondrial genome in human colorectal tumours. Nat Genet 1998;20:291-3.
21. Sanchez-Cespedes M, Parrella P, Nomoto S, Cohen D, Xiao Y, Esteller M, Jeronimo C, Jordan RC, Nicol T, Koch WM, Schoenberg M, Mazzarelli P, et al. Identification of a mononucleotide repeat as a major target for mitochondrial DNA alterations in human tumors. Cancer Res 2001;61:7015-19.
22. Cottet V, Pariente A, Nalet B, Lafon J, Milan C, Olschwang S, Faivre J, Bonaiti-Pellie C, Bonithon-Kopp C. Low compliance with colonoscopic screening in first-degree relatives of patients with large adenomas. Aliment Pharmacol Ther 2006;24:101-9.
23. Lievre A, Milet J, Carayol J, Le Corre D, Milan C, Pariente A, Nalet B, Lafon J, Faivre J, Bonithon-Kopp C, Olschwang S, Bonaiti-Pellie C, et al. Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma. BMC Cancer 2006;6:270.
24. Schwartz S, Jr, Alazzouzi H, Perucho M. Mutational dynamics in human tumors confirm the neutral intrinsic instability of the mitochondrial D-loop poly-cytidine repeat. Genes Chromosomes Cancer 2006;45:770-80.
25. Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nat Rev Genet 2005;6:389-402.
26. Ha PK, Tong BC, Westra WH, Sanchez-Cespedes M, Parrella P, Zahurak M, Sidransky D, Califano JA. Mitochondrial C-tract alteration in premalignant lesions of the head and neck: a marker for progression and clonal proliferation. Clin Cancer Res 2002;8:2260-5.
27. Jeronimo C, Nomoto S, Caballero OL, Usadel H, Henrique R, Varzim G, Oliveira J, Lopes C, Fliss MS, Sidransky D. Mitochondrial mutations in early stage prostate cancer and bodily fluids. Oncogene 2001;20:5195-8.
28. Maximo V, Lima J, Soares P, Botelho T, Gomes L, Sobrinho-Simoes M. Mitochondrial D-Loop instability in thyroid tumours is not a marker of malignancy. Mitochondrion 2005;5:333-40.
29. Miyazono F, Schneider PM, Metzger R, Warnecke-Eberz U, Baldus SE, Dienes HP, Aikou T, Hoelscher AH. Mutations in the mitochondrial DNA D-Loop region occur frequently in adenocarcinoma in Barrett's esophagus. Oncogene 2002;21:3780-3.
30. Nishikawa M, Nishiguchi S, Shiomi S, Tamori A, Koh N, Takeda T, Kubo S, Hirohashi K, Kinoshita H, Sato E, Inoue M. Somatic mutation of mitochondrial DNA in cancerous and noncancerous liver tissue in individuals with hepatocellular carcinoma. Cancer Res 2001;61:1843-5.
31. Tang M, Baez S, Pruyas M, Diaz A, Calvo A, Riquelme E, Wistuba II. Mitochondrial DNA mutation at the D310 (displacement loop) mononucleotide sequence in the pathogenesis of gallbladder carcinoma. Clin Cancer Res 2004;10:1041-6.
32. Yamamoto A, Horai S, Yuasa Y. Increased level of mitochondrial gene expression in polyps of familial polyposis coli patients. Biochem Biophys Res Commun 1989;159:1100-6.
33. Sui G, Zhou S, Wang J, Canto M, Lee EE, Eshleman JR, Montgomery EA, Sidransky D, Califano JA, Maitra A. Mitochondrial DNA mutations in preneoplastic lesions of the gastrointestinal tract: a biomarker for the early detection of cancer. Mol Cancer 2006;5:73.
34. Suzuki M, Toyooka S, Miyajima K, Iizasa T, Fujisawa T, Bekele NB, Gazdar AF. Alterations in the mitochondrial displacement loop in lung cancers. Clin Cancer Res 2003;9:5636-41.
35. Parsons R, Myeroff LL, Liu B, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B. Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer. Cancer Res 1995;55:5548-50.
36. Kumimoto H, Yamane Y, Nishimoto Y, Fukami H, Shinoda M, Hatooka S, Ishizaki K. Frequent somatic mutations of mitochondrial DNA in esophageal squamous cell carcinoma. Int J Cancer 2004;108:228-31.
37. Poetsch M, Petersmann A, Lignitz E, Kleist B. Relationship between mitochondrial DNA instability, mitochondrial DNA large deletions, and nuclear microsatellite instability in head and neck squamous cell carcinomas. Diagn Mol Pathol 2004;13:26-32.
38. Richard SM, Bailliet G, Paez GL, Bianchi MS, Peltomaki P, Bianchi NO. Nuclear and mitochondrial genome instability in human breast cancer. Cancer Res 2000;60:4231-7.
39. Tamura G, Nishizuka S, Maesawa C, Suzuki Y, Iwaya T, Sakata K, Endoh Y, Motoyama T. Mutations in mitochondrial control region DNA in gastric tumours of Japanese patients. Eur J Cancer 1999;35:316-9.
40. Bandy B, Davison AJ. Mitochondrial mutations may increase oxidative stress: implications for carcinogenesis and aging? Free Radic Biol Med 1990;8:523-39.
41. Gille JJ, Joenje H. Cell culture models for oxidative stress: superoxide and hydrogen peroxide versus normobaric hyperoxia. Mutat Res 1992;275:405-14.
42. Shigenaga MK, Hagen TM, Ames BN. Oxidative damage and mitochondrial decay in aging. Proc Natl Acad Sci USA 1994;91:10771-8.
43. Wardell TM, Ferguson E, Chinnery PF, Borthwick GM, Taylor RW, Jackson G, Craft A, Lightowlers RN, Howell N, Turnbull DM. Changes in the human mitochondrial genome after treatment of malignant disease. Mutat Res 2003;525:19-27.
44. Hibi K, Nakayama H, Yamazaki T, Takase T, Taguchi M, Kasai Y, Ito K, Akiyama S, Nakao A. Mitochondrial DNA alteration in esophageal cancer. Int J Cancer 2001;92:319-21.
45. Kose K, Hiyama T, Tanaka S, Yoshihara M, Yasui W, Chayama K. Somatic mutations of mitochondrial DNA in digestive tract cancers. J Gastroenterol Hepatol 2005;20:1679-84.
46. Nishikawa M, Oshitani N, Matsumoto T, Nishigami T, Arakawa T, Inoue M. Accumulation of mitochondrial DNA mutation with colorectal carcinogenesis in ulcerative colitis. Br J Cancer 2005;93:331-7.
47. Lee HC, Li SH, Lin JC, Wu CC, Yeh DC, Wei YH. Somatic mutations in the D-loop and decrease in the copy number of mitochondrial DNA in human hepatocellular carcinoma. Mutat Res 2004;547:71-8.
48. Mambo E, Chatterjee A, Xing M, Tallini G, Haugen BR, Yeung SC, Sukumar S, Sidransky D. Tumor-specific changes in mtDNA content in human cancer. Int J Cancer 2005.
49. Tan DJ, Chang J, Liu LL, Bai RK, Wang YF, Yeh KT, Wong LJ. Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer. BMC Cancer 2006;6:93.
50. Tseng LM, Yin PH, Chi CW, Hsu CY, Wu CW, Lee LM, Wei YH, Lee HC. Mitochondrial DNA mutations and mitochondrial DNA depletion in breast cancer. Genes Chromosomes Cancer 2006;45:629-38.
51. Wang Y, Liu VW, Xue WC, Tsang PC, Cheung AN, Ngan HY. The increase of mitochondrial DNA content in endometrial adenocarcinoma cells: a quantitative study using laser-captured microdissected tissues. Gynecol Oncol 2005;98:104-10.
52. Wu CW, Yin PH, Hung WY, Li AF, Li SH, Chi CW, Wei YH, Lee HC. Mitochondrial DNA mutations and mitochondrial DNA depletion in gastric cancer. Genes Chromosomes Cancer 2005;44:19-28.
53. Yamada S, Nomoto S, Fujii T, Kaneko T, Takeda S, Inoue S, Kanazumi N, Nakao A. Correlation between copy number of mitochondrial DNA and clinico-pathologic parameters of hepatocellular carcinoma. Eur J Surg Oncol 2006;32:303-7.
54. Yin PH, Lee HC, Chau GY, Wu YT, Li SH, Lui WY, Wei YH, Liu TY, Chi CW. Alteration of the copy number and deletion of mitochondrial DNA in human hepatocellular carcinoma. Br J Cancer 2004;90:2390-6.
55. Fliss MS, Usadel H, Caballero OL, Wu L, Buta MR, Eleff SM, Jen J, Sidransky D. Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science 2000;287:2017-19.
56. Hibi K, Nakayama H, Yamazaki T, Takase T, Taguchi M, Kasai Y, Ito K, Akiyama S, Nakao A. Detection of mitochondrial DNA alterations in primary tumors and corresponding serum of colorectal cancer patients. Int J Cancer 2001;94:429-31.
57. Nomoto S, Yamashita K, Koshikawa K, Nakao A, Sidransky D. Mitochondrial D-loop mutations as clonal markers in multicentric hepatocellular carcinoma and plasma. Clin Cancer Res 2002;8:481-7.
58. Parrella P, Xiao Y, Fliss M, Sanchez-Cespedes M, Mazzarelli P, Rinaldi M, Nicol T, Gabrielson E, Cuomo C, Cohen D, Pandit S, Spencer M, et al. Detection of mitochondrial DNA mutations in primary breast cancer and fine-needle aspirates. Cancer Res 2001;61:7623-6.