Crosslinks and crosstalk: Human cancer syndromes and DNA repair defects

Cancer Cell

Volumn 6, Issue 6, 2004, Pages 539-545

  Risinger, Mary A ^a   Groden, Joanna ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

CANCER; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CHROMOSOME ABERRATION; COLORECTAL CARCINOMA; DNA CROSS LINKING; DNA REPAIR; FANCONI ANEMIA; GENE SEQUENCE; GENETIC STRAIN; GENOMICS; HUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVIEW;

EID: 10944257674     PISSN: 15356108     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ccr.2004.12.001     Document Type: Review

References (72)

1. Al-Tassan N., Chmiel N.H., Maynard J., Fleming N., Livingston A.L., Williams G.T., Hodges A.K., Davies D.R., David S.S., Sampson J.R., Cheadle J.P. Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat. Genet. 30:2002;227-232
2. Andreassen P.R., D'Andrea A.D., Taniguchi T. ATR couples FANCD2 monoubiquitination to the DNA-damage response. Genes Dev. 18:2004;1958-1963
3. Bachrati C.Z., Hickson I.D. RecQ helicases. Suppressors of tumorigenesis and premature aging Biochem. J. 374:2003;577-606
4. Beamish H., Kedar P., Kaneko H., Chen P., Fukao T., Peng C., Beresten S., Gueven N., Purdie D., Lees-Miller S., et al. Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM. J. Biol. Chem. 277:2002;30515-30523
5. Boldogh I., Milligan D., Lee M.S., Bassett H., Lloyd R.S., McCullough A.K. hMYH cell cycle-dependent expression, subcellular localization and association with replication foci. Evidence suggesting replication-coupled repair of adenine:8-oxoguanine mispairs Nucleic Acids Res. 29:2001;2802-2809
6. Braybrooke J.P., Li J.-L., Wu L., Caple F., Benson F.E., Hickson I.D. Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D). J. Biol. Chem. 278:2003;48357-48366
7. Brosh R.M., Li J.-L., Kenny M.K., Karow J.K., Cooper M.P., Kureekattil R.P., Hickson I.D., Bohr V.A. Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity. J. Biol. Chem. 275:2000;23500-23508
8. Cahill D.P., Kinzler K.W., Vogelstein B., Lengauer C. Genetic instability and Darwinian selection in tumours. Trends Cell Biol. 9:1999;M57-M60
9. Chung D.C. The genetic basis of colorectal cancer. Insights into critical pathways of tumorigenesis Gastroenterology. 119:2000;854-865
10. D'Andrea A.D., Grompe M. The Fanconi anemia/BRCA pathway. Nat. Rev. Cancer. 3:2003;23-34
11. Daniels M.J., Wang Y., Lee M., Venkitaraman A.R. Abnormal cytokinesis in cells deficient in the breast cancer susceptibility protein BRCA2. Science. 306:2004;876-879
12. Davalos A.R., Campisi J. Bloom syndrome cells undergo p53-dependent apoptosis and delayed assembly of BRCA1 and NBS1 repair complexes at stalled replication forks. J. Cell Biol. 162:2003;1197-1209
13. Davies A.A., Masson J.-Y., McIlwraith M.J., Stasiak A.Z., Stasiak A., Venkitaraman A.R., West S.C. Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Mol. Cell. 7:2001;273-282
14. Davies S.L., North P.S., Dart A., Lakin N.D., Hickson I.D. Phosphorylation of the Bloom's syndrome helicase and its role in recovery from S-phase arrest. Mol. Cell. Biol. 24:2004;1279-1291
15. Debinski H.S., Love S., Spigelman A.D., Phillips R.K.S. Colorectal polyp counts and cancer risk in familial adenomatous polyposis. Gastroenterology. 110:1996;1028-1030
16. de Silva I.U., McHugh P.J., Clingen P.H., Hartley J.A. Defining the roles of nucleotide excision repair and recombination in the repair of DNA interstrand cross-links in mammalian cells. Mol. Cell. Biol. 20:2000;7980-7990
17. Dietmaier W., Wallinger S., Bocker T., Kullmann F., Fishel R., Ruschoff J. Diagnostic microsatellite instability. Definition and correlation with mismatch repair protein expression Cancer Res. 57:1997;4749-4756
18. Digweed M., Rothe S., Demuth I., Scholz R., Schindler D., Stumm M., Grompe M., Jordan A., Sperling K. Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia. Carcinogenesis. 23:2002;1121-1126
19. Fodde R., Kuipers J., Rosenberg C., Smits R., Kielman M., Gaspar C., van Es J.H., Breukel C., Wiegant J., Giles R.H., Clevers H. Mutations in the APC tumour suppressor gene cause chromosomal instability. Nat. Cell Biol. 3:2001;433-438
20. Franchitto A., Pichierri P. Bloom's syndrome protein is required for correct relocalization of RAD50/MRE11/NBS1 complex after replication fork arrest. J. Cell Biol. 157:2002;19-30
21. Garcia-Higuera I., Taniguchi T., Ganesan S., Meyn M.S., Timmers C., Hejna J., Grompe M., D'Andrea A.D. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol. Cell. 7:2001;249-262
22. Georgiades I.B., Curtis L.J., Morris R.M., Bird C.C., Wyllie A.H. Heterogeneity studies identify a subset of sporadic colorectal cancers without evidence for chromosomal or microsatellite instability. Oncogene. 18:1999;7933-7940
23. German J. Cytological evidence for crossing-over in vitro in human lymphoid cells. Science. 144:1964;298-301
24. Goss K.H., Groden J. Biology of the adenomatous polyposis coli tumor suppressor. J. Clin. Oncol. 18:2000;1967-1979
25. Goss K.H., Risinger M.A., Kordich J.J., Sanz M.M., Straughen J.E., Slovek L.E., Capobianco A.J., German J., Boivin G.P., Groden J. Enhanced tumor formation in mice heterozygous for Blm mutation. Science. 297:2002;2051-2053
26. Gruber S.B., Ellis N.A., Scott K.K., Almog R., Kolachana P., Bonner J.D., Kirchhoff T., Tomsho L.P., Nafa K., Pierce H., et al. BLM heterozygosity and the risk of colorectal cancer. Science. 297:2002;2013
27. Gu Y., Parker A., Wilson T.M., Bai H., Chang D.-Y., Lu A.-L. Human mutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human mutS homolog 2/human mutS homolog 6. J. Biol. Chem. 277:2002;11135-11142
28. Halford S.E.R., Rowan A.J., Lipton L., Sieber O.M., Pack K., Thomas H.J.W., Hodgson S.V., Bodmer W.F., Tomlinson I.P.M. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am. J. Pathol. 162:2003;1545-1548
29. Hoeijmakers J.H.J. Genome maintenance mechanisms for preventing cancer. Nature. 411:2001;366-374
30. Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q., deDie-Smulders C., Persky N., Grompe M., Jownje H., Pals G., et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 297:2002;606-609
31. Hussain S., Wilson J.B., Medhurst A.L., Hejna J., Witt E., Ananth S., Davies A., Masson J.Y., Moses R., West S.C., et al. Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways. Hum. Mol. Genet. 13:2004;1241-1248
32. Ilyas M., Straub J., Tomlinson I.P.M., Bodmer W.F. Genetic pathways in colorectal and other cancers. Eur. J. Cancer. 35:1999;335-351
33. Imamura O., Fujita K., Itoh C., Takeda S., Furuichi Y., Matsumoto T. Werner and Bloom helicases are involved in DNA repair in a complementary fashion. Oncogene. 21:2002;954-963
34. Jones S., Emmerson P., Maynard J., Best J.M., Jordan S., Williams G.T., Sampson J.R., Cheadle J.P. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations. Hum. Mol. Genet. 11:2002;2961-2967
35. Kambara T., Whitehall V.L.J., Spring K.J., Barker M.A., Arnold S., Wynter C.V.A., Matsubara N., Tanaka N., Young J.P., Leggett B.A., Jass J.R. Role of inherited defects of MYH in the development of sporadic colorectal cancer. Genes Chromosomes Cancer. 40:2004;1-9
36. Kaplan K.B., Burds A.A., Swedlow J.R., Bekir S.S., Sorger P.K., Nathke I.S. A role for the adenomatous polyposis coli protein in chromosome segregation. Nat. Cell Biol. 3:2001;429-432
37. Konishi M., Kikuchi-Yanoshita R., Tanaka K., Muraoka M., Onda A., Okumura Y., Kishi N., Iwama T., Mori T., Koike M., et al. Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer. Gastroenterology. 111:1996;307-317
38. Langland G., Kordich J., Creaney J., Goss K.H., Lillard-Wetherell K., Bebenek K., Kunkel T.A., Groden J. The Bloom's syndrome protein (BLM) interacts with MLH1 but it not required for DNA mismatch repair. J. Biol. Chem. 276:2001;30031-30035
39. Langland G., Elliott J., Li Y., Creaney J., Dixon K., Groden J. The BLM helicase is necessary for normal DNA double-strand break repair. Cancer Res. 62:2002;2766-2770
40. Levitus M., Rooimans M.A., Steltenpool J., Cool N.F.C., Oostra A.B., Mathew C.G., Hoatiln M.E., Waisfisz Q., Arwert F., de Winter J.P., Joenje H. Heterogeneity in Fanconi anemia. Evidence for two new genetic subtypes Blood. 103:2004;2498-2503
41. Lipton L., Halford S.E., Johnson V., Novelli M.R., Jones A., Cummings C., Barclay E., Sieber O., Sadat A., Bisgaard M.-L., et al. Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res. 63:2003;7595-7599
42. Meetei A.R., de Winter J.P., Medhurst A.L., Wallisch M., Waisfisz Q., van de Vrugt H.J., Oostra A.B., Yan Z., Ling C., Bishop C.E., et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat. Genet. 35:2003;165-170. a
43. Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H., Hoatlin M.E., Wang W. A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. Mol. Cell. Biol. 23:2003;3417-3426. b
44. Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C., Rooimans M.A., Bier P., Hoatlin M., Pals G., et al. X-linked inheritance of Fanconi anemia complementation group B. Nat. Genet. 36:2004;1219-1224
45. Muller A., Fishel R. Mismatch repair and the hereditary non-polyposis colorectal cancer syndrome (HNPCC). Cancer Invest. 20:2002;102-109
46. Narayan S., Roy D. Role of APC and DNA mismatch repair genes in the development of colorectal cancers. Mol. Cancer. 2:2003;41-56
47. Parker A., Gu Y., Mahoney W., Lee S.-H., Singh K.K., Lu A.-L. Human homolog of the mutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair. J. Biol. Chem. 276:2001;5547-5555
48. Pichierri P., Rosselli F. The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways. EMBO J. 23:2004;1178-1187
49. Pichierri P., Franchitto A., Rosselli F. BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks. EMBO J. 23:2004;3154-3163
50. Powell S.M., Zilz N., Beazer-Barclay Y., Bryan T.M., Hamilton S.R., Thibodeau S.N., Vogelstein B., Kinzler K.W. APC mutations occur early during colorectal tumorigenesis. Nature. 359:1992;235-237
51. Risinger M.A., Groden J. DNA helicase family. The recQ family in genomic stability Lennarz W.J., Lane M.D. Encyclopedia of Biol. Chem., Vol. 3. 2004;660-664 Academic Press/Elsevier Science, Oxford
52. Rothfuss A., Grompe M. Repair kinetics of genomic interstrand DNA cross-links. Evidence for DNA double-strand break-dependent activation of the Fanconi anemia/BRCA pathway Mol. Cell. Biol. 24:2004;123-134
53. Sampson J.R., Dolwani S., Jones S., Eccles D., Ellis A., Evans D.G., Frayling I., Jordan S., Maher E.R., Mak T., et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 362:2003;39-41
54. Sengupta S., Linke S.P., Pedeux R., Yang Q., Farnsworth J., Garfield S.H., Valerie K., Shay J.W., Ellis N.A., Wasylyk B., Harris C.C. BLM helicase-dependent transport of p53 to sites of stalled DNA replication forks modulates homologous recombination. EMBO J. 22:2003;1210-1222
55. Sharma S., Sommers J.A., Wu L., Bohr V.A., Hickson I.D., Brosh R.M. Stimulation of flap endonuclease-1 by the Bloom's syndrome protein. J. Biol. Chem. 279:2004;9847-9856
56. Sieber O.M., Lipton L., Crabtree M., Heinimann K., Fidalgo P., Phillips R.K.S., Bisgaard M.-L., Orntoft T.F., Aaltonen L.A., Hodgson S.V., et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N. Engl. J. Med. 348:2003;791-799
57. Slupska M.M., Baikalov C., Luther W.M., Chiang J.-H., Wei Y.-F., Miller J.H. Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage. J. Bacteriol. 178:1996;3885-3892
58. Swift M., Sholman L., Perry M., Chase C. Malignant neoplasms in the families of patients with ataxia-telangiectasia. Cancer Res. 36:1976;209-215
59. Taniguchi T., Garcia-Higuera I., Andreassen P.R., Gregory R.C., Grompe M., D'Andrea A.D. S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51. Blood. 100:2002;2414-2420. a
60. Taniguchi T., Garcia-Higuera I., Xu B., Andreassen P.R., Gregory R.C., Kim S.-T., Lane W.S., Kastan M.B., D'Andrea A.D. Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways. Cell. 109:2002;459-472. b
61. Tutt A., Bertwistle D., Valentine J., Gabriel A., Swift S., Ross G., Griffin C., Thacker J., Ashworth A. Mutation in Brca2 stimulates error-prone homology-directed repair of DNA double-strand breaks occurring between repeated sequences. EMBO J. 20:2001;4704-4716
62. Vandenberg C.J., Gergely F., Ong C.Y., Pace P., Mallery D.L., Hiom K., Patel K.J. BRCA1-independent ubiquitination of FANCD2. Mol. Cell. 12:2003;247-254
63. von Kobbe C., Karmakar P., Dawut L., Opresko P., Zeng X., Brosh R.M., Hickson I.D., Bohr V.A. Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins. J. Biol. Chem. 277:2002;22035-22044
64. Wang X.Z., Andreassen P.R., D'Andrea A.D. Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. Mol. Cell. Biol. 24:2004;5850-5862
65. Wang Y., Cortez D., Yazdi P., Neff N., Elledge S.J., Qin J. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 14:2000;927-939
66. Wood R.D., Mitchell M., Sgouros J., Lindahl T. Human DNA repair genes. Science. 291:2001;1284-1289
67. Wu L., Hickson I.D. The Bloom's syndrome helicase stimulates the activity of human topoisomerase IIIα Nucleic Acids Res. 30:2002;4823-4829
68. Wu L., Hickson I.D. The Bloom's syndrome helicase suppresses crossing over during homologous recombination. Nature. 426:2003;870-874
69. Wu L., Davies S.L., Levitt N.C., Hickson I.D. Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD 51. J. Biol. Chem. 276:2001;19375-19381
70. Yang Q., Zhang R., Wang X.W., Spillare E.A., Linke S.P., Subramanian D., Griffith J.D., Li J.L., Hickson I.D., Shen J.C., et al. The processing of Holliday junctions by BLM and WRN helicases is regulated by p53. J. Biol. Chem. 277:2002;31980-31987
71. Yang Q., Zhang R., Wang X.W., Linke S.P., Sengupta S., Hickson I.D., Pedrazzi G., Perrera C., Stagljar I., Littman S.J., et al. The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase. Oncogene. 23:2004;3749-3756
72. Yao J., Eu K.W., Seow-Choen F., Vijayan V., Cheah P.Y. Microsatellite instability and aneuploidy rate in young colorectal-cancer patients do not differ significantly from those in older patients. Int. J. Cancer. 80:1999;667-670