Somatic mutations of mitochondrial genome in early stage breast cancer

International Journal of Cancer

Volumn 121, Issue 6, 2007, Pages 1253-1256

  Wang, Cheng Ye ^a,b,c   Wang, Hua Wei ^b   Yao, Yong Gang ^a   Kong, Qing Peng ^a,b   Zhang, Ya Ping ^a,b  

^a KUNMING INSTITUTE OF ZOOLOGY   (China)

^b YUNNAN UNIVERSITY   (China)

^c UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

Author keywords

Cancer; Haplotype; mtDNA; Phylogeny; Somatic mutation

Indexed keywords

MITOCHONDRIAL DNA; RIBOSOME RNA;

ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER STAGING; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; EARLY DIAGNOSIS; FEMALE; GENOME; HUMAN; HUMAN TISSUE; MITOCHONDRION; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SOMATIC MUTATION;

BASE SEQUENCE; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; DNA, NEOPLASM; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PHYLOGENY; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 34548064910     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.22822     Document Type: Article

References (39)

1. Petros JA, Baumann AK, Ruiz-Pesini E, Amin MB, Sun CQ, Hall J, Lim S, Issa MM, Flanders WD, Hosseini SH, Marshall FF, Wallace DC. mtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci USA 2005;102:719-24.
2. Salas A, Yao Y-G, Macaulay V, Vega A, Carracedo A, Bandelt H-J. A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med 2005;2:e296.
3. Brandon M, Baldi P, Wallace DC. Mitochondrial mutations in cancer. Oncogene 2006;25:4647-62.
4. Chatterjee A, Mambo E, Sidransky D. Mitochondrial DNA mutations in human cancer. Oncogene 2006;25:4663-74.
5. Copeland WC, Wachsman JT, Johnson FM, Penta JS. Mitochondrial DNA alterations in cancer. Cancer Invest 2002;20:557-69.
6. Carew JS, Huang P. Mitochondrial defects in cancer. Mol Cancer 2002;1:9.
7. 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.
8. 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.
9. 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.
10. Parr RL, Dakubo GD, Crandall KA, Maki J, Reguly B, Aguirre A, Wittock R, Robinson K, Alexander JS, Birch-Machin MA, Abdel-Malak M, Froberg MK, et al. Somatic mitochondrial DNA mutations in prostate cancer and normal appearing adjacent glands in comparison to age-matched prostate samples without malignant histology. J Mol Diagn 2006;8:312-19.
11. Ohta S. Contribution of somatic mutations in the mitochondrial genome to the development of cancer and tolerance against anticancer drugs. Oncogene 2006;25:4768-76.
12. Gallardo ME, Moreno-Loshuertos R, Lopez C, Casqueiro M, Silva J, Bonilla F, Rodriguez de Cordoba S, Enriquez JA. m.6267G > A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumors. Hum Mutat 2006;27:575-82.
13. Sun C, Kong Q-P, Palanichamy Mg, Agrawal S, Bandelt H-J, Yao Y-G, Khan F, Zhu C-L, Chaudhuri TK, Zhang Y-P. The dazzling array of basal branches in the mtDNA macrohaplogroup M from India as inferred from complete genomes. Mol Biol Evol 2006;23:683-90.
14. 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.
15. Sharma H, Singh A, Sharma C, Jain SK, Singh N. Mutations in the mitochondrial DNA D-loop region are frequent in cervical cancer. Cancer Cell Int 2005;5:34.
16. Navaglia F, Basso D, Fogar P, Sperti C, Greco E, Zambon CF, Stranges A, Falda A, Pizzi S, Parenti A, Pedrazzoli S, Plebani M. Mitochondrial DNA D-loop in pancreatic cancer: somatic mutations are epiphenomena while the germline 16519 T variant worsens metabolism and outcome. Am J Clin Pathol 2006;126:593-601.
17. Yeh JJ, Lunetta KL, van Orsouw NJ, Moore FD Jr, Mutter GL, Vijg J, Dahia PL, Eng C. Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours. Oncogene 2000;19:2060-6.
18. Shin MG, Kajigaya S, Levin BC, Young NS. Mitochondrial DNA mutations in patients with myelodysplasia syndromes. Blood 2003;101:3118-25.
19. Kong Q-P, Yao Y-G, Sun C, Bandelt H-J, Zhu C-L, Zhang Y-P. Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 2003;73:671-6.
20. Palanichamy Mg, Sun C, Agrawal S, Bandelt H-J, Kong Q-P, Khan F, Wang C-Y, Chaudhuri TK, Palla V, Zhang Y-P. Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia. Am J Hum Genet 2004;75:966-78.
21. Sobin LH, Wittekind C, eds. TNM classification of malignant tumors, 6th edn. New York: Wiley-Liss, 2002.
22. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999;23:147.
23. Kong Q-P, Bandelt H-J, Sun C, Yao Y-G, Salas A, Achilli A, Wang C-Y, Zhong L, Zhu C-L, Wu S-F, Torroni A, Zhang Y-P. Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum Mol Genet 2006;15:2076-86.
24. Bandelt H-J, Lahermo P, Richards M, Macaulay V. Detecting errors in mtDNA data by phylogenetic analysis. Int J Legal Med 2001;115:64-9.
25. Yao Y-G, Bravi CM, Bandelt H-J. A call for mtDNA data quality control in forensic science. Forensic Sci Int 2004;141:1-6.
26. Yao Y-G, Salas A, Bravi CM, Bandelt H-J. A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum Genet 2006;119:505-15.
27. Bandelt H-J, Achilli A, Kong Q-P, Salas A, Lutz-Bonengel S, Sun C, Zhang Y-P, Torroni A, Yao Y-G. Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies. Biochem Biophys Res Commun 2005;333:122-30.
28. Bandelt H-J, Yao Y-G, Salas A, Kivisild T, Bravi CM. High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients. Biochem Biophys Res Commun 2007;352:283-91.
29. 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.
30. Okochi O, Hibi K, Uemura T, Inoue S, Takeda S, Kaneko T, Nakao A. Detection of mitochondrial DNA alterations in the serum of hepatocellular carcinoma patients. Clin Cancer Res 2002;8:2875-8.
31. 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.
32. 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.
33. Yao Y-G, Ogasawara Y, Kajigaya S, Molldrem JJ, Falcao RP, Pintao MC, McCoy JP, Jr, Rizzatti EG, Young NS. Mitochondrial DNA sequence variation in single cells from leukemia patients. Blood 2007;109:756-62.
34. Heerdt BG, Chen J, Stewart LR, Augenlicht LH. Polymorphisms, but lack of mutations or instability, in the promotor region of the mitochondrial genome in human colonic tumors. Cancer Res 1994;54: 3912-15.
35. Miyazono F, Schneider PM, Metzger R, Wamecke-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.
36. Tan D-J, Bai R-K, Wong L-J. Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer. Cancer Res 2002;62: 972-6.
37. Zhu W, Qin W, Bradley P, Wessel A, Puckett CL, Sauter ER. Mitochondrial DNA mutations in breast cancer tissue and in matched nipple aspirate fluid. Carcinogenesis 2005;26:145-52.
38. Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TB, Turnbull DM. Mitochondrial DNA mutations in human colonic crypt stem cells. J Clin Invest 2003;112:1351-60.
39. Ruiz-Pesini E, Wallace DC. Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA. Hum Mutat 2006;27:1072-81.