The mismatch repair gene hPMS2 is mutated in primary breast cancer

International Journal of Molecular Medicine

Volumn 18, Issue 5, 2006, Pages 853-857

  Balogh, Gabriela A ^a   Heulings, Rebecca C ^a   Russo, Jose ^a  

^a FOX CHASE CANCER CENTER   (United States)

Author keywords

Breast cancer; hPMS2; Mismatch repair

Indexed keywords

ADENOSINE TRIPHOSPHATASE; DNA; DNA BINDING PROTEIN; PMS2 PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE;

AGED; ARTICLE; BASE MISPAIRING; BREAST TUMOR; DNA REPAIR; ENZYMOLOGY; FEMALE; GENETIC POLYMORPHISM; GENETICS; HUMAN; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE;

ADENOSINE TRIPHOSPHATASES; AGED; AGED, 80 AND OVER; BASE PAIR MISMATCH; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA REPAIR; DNA REPAIR ENZYMES; DNA, NEOPLASM; DNA-BINDING PROTEINS; FEMALE; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, GENETIC;

EID: 39049188920     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.18.5.853     Document Type: Article

References (44)

1. Loeb LA: Microsatellite instability: Marker of a mutator phenotype in cancer. Cancer Res 54: 5059-5063, 1994.
2. Kunkel TA: Slippery DNA and diseases. Nature 365: 207-208, 1993.
3. Nowel PC: The clonal evolution of tumor cell populations. Science 194: 23-28, 1976.
4. Loeb LA: Mutator phenotype may be required for multistage carcinogenesis. Cancer Res 51: 3075-3079, 1991.
5. Yee CJ, Roodi N, Verrier CS and Parl FF: Microsatellite instability and loss of heterozygosity in breast cancer. Cancer Res 54: 1641-1644, 1994. (Pubitemid 24116161)
6. Shaw JA, Walsh T, Chappell SA, et al: Microsatellite instability in early sporadic breast cancer. Br J Cancer 73: 1393-1397, 1996. (Pubitemid 26175673)
7. Toyama T, Iwase H, Yamashita H, et al: Microsatellite instability in sporadic human breast cancers. Int J Cancer 68: 447-451, 1996.
8. Risinger JL, Barrett JC, Watson P, Lynch HT and Boyd J: Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary non-polyposis colorectal carcinoma syndrome. Cancer 7: 1836-1843, 1996.
9. Walker RA, Jones JL, Chappell S, Walsh T and Shaw JA: Molecular pathology of breast cancer and its application to clinical management. Cancer Metastasis Rev 16: 5-27, 1997.
10. Rush EB, Calvano JE, Van Zee KJ, Zelenetz AD and Borgen PI: Microsatellite instability in breast cancer. Ann Surg Oncol 4: 310-315, 1997.
11. Sourvinos G, Kiaris H, Tsikkinis A, Vassilaros S and Spandidos DA: Microsatellite instability and loss of heterozygosity in primary breast tumors. Tumor Biol 18: 157-166, 1997. (Pubitemid 27204762)
12. Patel U, Grundfest-Broniatowski S, Gupta M, et al: Micro-satellite instabilities at five chromosomes in primary breast tumors. Oncogene 9: 3697-3700, 1994.
13. Eshleman JR and Markowitz SD: Microsatellite instability in inherited and sporadic neoplasms. Curr Opin Oncol 7: 83-89, 1995.
14. Lakhani SR, Slack DN, Hamoudi RA, et al: Detection of allelic imbalance indicates that a proportion of mammary hyperplasia of usual type are clonal, neoplastic proliferations. Lab Invest 74: 129-135, 1996.
15. Aldaz CM, Chen T, Sahin A, et al: Comparative alleotype of in situ and invasive human breast cancer. High frequency of microsatellite in-stability in lobular breast carcinoma. Cancer Res 55: 3976-3981, 1995.
16. Matton N, Simonetti J and Williams K: Identification of mismatch repair protein complexes in HeLa nuclear extracts and their interactions with heteroduplex DNA. J Biol Chem 275: 17808-17813, 2000.
17. Fishel R and Kolodner R: Identification of mismatch repair genes and their role in the development of cancer. Curr Opin Genet Dev 5: 382-395, 1995.
18. Fishel R and Wilson T: MutS homologs in mammalian cells. Curr Opin Genet Dev 7: 105-113, 1997.
19. Drummond JT, Li G-M, Longley MJ and Modrich P: Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. Science 268: 1909-19l2, 1995.
20. Palombo F, Gallinari P, Iaccarino I, Lettieri T, Hughes M, D'Arrigo A, Truong O, Hsuan JJ and Jiricny J: GTBP, a 160- kilodalton protein essential for mismatch-binding activity in human cells. Science 268: 1912-1914, 1995.
21. Alani E: The Saccharomyces cerevisiae Msh2 and Msh6 proteins form a complex that specifically binds to duplex oligonucleotides containing mismatched DNA base pairs. Mol Cell Biol 16: 5604-5615, 1996.
22. Gradia S, Acharyo S and Fishel R: The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch. Cell 91: 996-1005, 1997.
23. Li GM and Modrich P: Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MuTL homologs. Proc Natl Acad Sci USA 92: 1950-1954, 1995.
24. Papadopoulos N and Lindblom A: Molecular basis of HNPCC: Mutations MMR genes. Hum Mutat 10: 89-99, 1997.
25. Balogh GA, Russo IH and Russo J: Mutations in mismatch repair genes are involved in the neoplastic transformation of human breast epithelial cells. Int J Oncol 23: 411-419, 2003.
26. Balogh GA, Russo IH and Russo J: Truncation of the mismatch repair protein PMS2 during neoplastic transformation of human breast epithelial cells in vitro. Int J Oncol 25: 381-387, 2004.
27. Chomczynski P and Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156-159, 1987.
28. Laemmli UK: Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227: 680-685, 1970.
29. Dillon EK, de Boer WB, Papadimitriou JM and Turbett GR: Microsatellite instability and loss of heterozygosity in mammary carcinoma and its probable precursors. Br J Cancer 76: 156-162, 1997.
30. Anbazhagan R, Fujii H and Gabrielson E: Microsatellite instability is uncommon in breast cancer. Clin Cancer Res 5: 839-844, 1999.
31. Schmitt FC, Soares R, Gobbi H, Milanezzi F, Santo-Silva F, Cirnes L and Costa C: Microsatellite instability in medullary breast carcinoma. Int J Cancer 82: 644-647, 1999.
32. Lee S-C, Berg KD, Sherman ME, Griffin CA and Eshleman JR: Microsatellite instability is infrequent in medullary breast cancer. Am J Clin Pathol 115: 823-827, 2001.
33. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA and Nystrom-Lahti M: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75: 1215-1225, 1993.
34. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J and Lindblom A: Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368: 258-261, 1994.
35. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM and Adams MD: Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625-1629, 1994.
36. Yee CJ, Roodi N, Verrier CS and Parl FF: Microsatellite instability and loss of heterozygosity in breast cancer. Cancer Res 54: 1641-1644, 1994.
37. Karnik P, Plummer S, Casey G, Myles J, Tubbs R, Crowe J and Williams BR: Microsatellite instability at a single locus (D11S988) on chromosome 11p15.5 as a late event in mammary tumorigenesis. Hum Mol Genet: 1889-1894, 1995.
38. Paulson TG, Wright FA, Parker BA, Russack V and Wahl GM: Microsatellite instability correlates with reduced survival and poor disease prognosis in breast cancer. Cancer Res 56: 4021-4026, 1996.
39. Benachenhou N, Guiral S, Gorska-Flipot I, Labuda D and Sinnett D: Frequent loss of heterozygosity at the DNA mismatchrepair loci hMLH1 and hMSH3 in sporadic breast cancer. Br J Cancer 79: 1012-1017, 1999.
40. Biéche I and Lidereau R: Genetic alterations in breast cancer. Genes Chromosomes Cancer 14: 227-251, 1995.
41. Winter DB, Phung QH, Umar A, et al: Altered spectra of hypermutation in antibodies from mice deficient for the DNA mismatch repair protein PMS2. Proc Natl Acad Sci USA 95: 6953-6958, 1998.
42. Ma AH, Xia L, Littman SJ, Swinler S, Lader G, Polinkovsky A, Olechnowicz J, Kasuri L, Lutterbaugh J, Modrich P, Veigl ML, Markowitz SD and Sedwick WD: Somatic mutation of hPMS2 as a possible cause of sporadic human colon cancer with microsatellite instability. Oncogene 19: 2249-2256, 2000.
43. Nicolaides N, Carter KC, Shell BK, et al: Genomic organization of the human PMS2 gene family. Genomics 30: 195-206, 1995.
44. Nicolaides NC, Papadopoulos N, Liu B, Weit Y-F, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Craig Venter J, Dunlop MG, Hamilton SR, Petersen GM, de la Chapelle A, Vogelstein B and Kinzler KW: Mutations of two PMS homologues in hereditary non-polyposis colon cancer. Nature 371: 75-80, 2002.