Fine tuning chemotherapy to match BRCA1 status

Biochemical Pharmacology

Volumn 80, Issue 5, 2010, Pages 647-653

  Price, Melissa ^a,b   Monteiro, Alvaro N A ^a  

^a H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

BRCA1; Cancer; Chemotherapy; DNA damage; Synthetic lethality; Tumor suppressor

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; CISPLATIN; DOCETAXEL; GEMCITABINE; NAVELBINE; NICOTINAMIDE ADENINE DINUCLEOTIDE ADENOSINE DIPHOSPHATE RIBOSYLTRANSFERASE INHIBITOR; OLAPARIB; PACLITAXEL; VINCA ALKALOID;

ABSENCE OF SIDE EFFECTS; BRADYCARDIA; CANCER CELL; CANCER CHEMOTHERAPY; CELL ACTIVITY; CELL DEATH; CLINICAL TRIAL; DNA DAMAGE; DRUG TARGETING; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; LUNG CANCER; MOLECULAR CLONING; NEUROTOXICITY; NONHUMAN; PRIORITY JOURNAL; PROGNOSIS; REVIEW; TREATMENT RESPONSE;

ANTINEOPLASTIC AGENTS; CLONING, MOLECULAR; DNA DAMAGE; GENES, BRCA1; HUMANS; NEOPLASMS; PROGNOSIS; TUMOR MARKERS, BIOLOGICAL;

EID: 77954215461     PISSN: 00062952     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcp.2010.05.015     Document Type: Review

References (154)

1. Bartkova J., Horejsi Z., Koed K., Kramer A., Tort F., Zieger K., et al. DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis. Nature 2005, 434:864-870.
2. Gorgoulis V.G., Vassiliou L.V., Karakaidos P., Zacharatos P., Kotsinas A., Liloglou T., et al. Activation of the DNA damage checkpoint and genomic instability in human precancerous lesions. Nature 2005, 434:907-913.
3. Bartkova J., Rezaei N., Liontos M., Karakaidos P., Kletsas D., Issaeva N., et al. Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpoints. Nature 2006, 444:633-637.
4. Harper J.W., Elledge S.J. The DNA damage response: ten years after. Mol Cell 2007, 28:739-745.
5. Broca P.P. Traité des tumeurs 1866, Asselin, Paris.
6. Lynch H.T., Krush A.J., Lemon H.M., Kaplan A.R., Condit P.T., Bottomley R.H. Tumor variation in families with breast cancer. JAMA 1972, 222:1631-1635.
7. Gardner E.J., Stephens F.E. Breast cancer in one family group. Am J Hum Genet 1950, 2:30-40.
8. Newman B., Austin M.A., Lee M., King M.C. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc Natl Acad Sci USA 1988, 85:3044-3048.
9. Hall J.M., Lee M.K., Newman B., Morrow J.E., Anderson L.A., Huey B., et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990, 250:1684-1689.
10. Narod S.A., Feunteun J., Lynch H.T., Watson P., Conway T., Lynch J., et al. Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet 1991, 338:82-83.
11. Smith S.A., Easton D.F., Evans D.G., Ponder B.A. Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nat Genet 1992, 2:128-131.
12. Easton D.F., Bishop D.T., Ford D., Crockford G.P. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1993, 52:678-701.
13. Miki Y., Swensen J., Shattuck-Eidens D., Futreal P.A., Harshman K., Tavtigian S., et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994, 266:66-71.
14. Davies K., White M. Breakthrough: The Race to Find the Breast Cancer Gene 1996, John Wiley & Sons, New York.
15. Wooster R., Bignell G., Lancaster J., Swift S., Seal S., Mangion J., et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995, 378:789-792.
16. Tavtigian S.V., Simard J., Rommens J., Couch F., Shattuck-Eidens D., Neuhausen S., et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 1996, 12:333-337.
17. Frank T.S., Deffenbaugh A.M., Reid J.E., Hulick M., Ward B.E., Lingenfelter B., et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002, 20:1480-1490.
18. Rubin S.C., Benjamin I., Behbakht K., Takahashi H., Morgan M.A., LiVolsi V.A., et al. Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N Engl J Med 1996, 335:1413-1416.
19. Cass I., Baldwin R.L., Varkey T., Moslehi R., Narod S.A., Karlan B.Y. Improved survival in women with BRCA-associated ovarian carcinoma. Cancer 2003, 97:2187-2195.
20. Ben David Y., Chetrit A., Hirsh-Yechezkel G., Friedman E., Beck B.D., Beller U., et al. Effect of BRCA mutations on the length of survival in epithelial ovarian tumors. J Clin Oncol 2002, 20:463-466.
21. Ramus S.J., Fishman A., Pharoah P.D., Yarkoni S., Altaras M., Ponder B.A. Ovarian cancer survival in Ashkenazi Jewish patients with BRCA1 and BRCA2 mutations. Eur J Surg Oncol 2001, 27:278-281.
22. Tan D.S.P., Rothermundt C., Thomas K., Bancroft E., Eeles R., Shanley S., et al. " BRCAness" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol 2008, 26:5530-5536.
23. Aida H., Takakuwa K., Nagata H., Tsuneki I., Takano M., Tsuji S., et al. Clinical features of ovarian cancer in Japanese women with germ-line mutations of BRCA1. Clin Cancer Res 1998, 4:235-240.
24. Boyd J., Sonoda Y., Federici M.G., Bogomolniy F., Rhei E., Maresco D.L., et al. Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. JAMA 2000, 283:2260-2265.
25. Majdak E.J., Debniak J., Milczek T., Cornelisse C.J., Devilee P., Emerich J., et al. Prognostic impact of BRCA1 pathogenic and BRCA1/BRCA2 unclassified variant mutations in patients with ovarian carcinoma. Cancer 2005, 104:1004-1012.
26. Chetrit A., Hirsh-Yechezkel G., Ben-David Y., Lubin F., Friedman E., Sadetzki S. Effect of BRCA1/2 mutations on long-term survival of patients with invasive ovarian cancer: the national Israeli study of ovarian cancer. J Clin Oncol 2008, 26:20-25.
27. Johannsson O.T., Ranstam J., Borg A., Olsson H. Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden. J Clin Oncol 1998, 16:397-404.
28. Pharoah P.D., Easton D.F., Stockton D.L., Gayther S., Ponder B.A. Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer. United Kingdom Coordinating Committee for Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group. Cancer Res 1999, 59:868-871.
29. Ford D., Easton D.F., Stratton M., Narod S., Goldgar D., Devilee P., et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998, 62:676-689.
30. Berchuck A., Heron K.A., Carney M.E., Lancaster J.M., Fraser E.G., Vinson V.L., et al. Frequency of germline and somatic BRCA1 mutations in ovarian cancer. Clin Cancer Res 1998, 4:2433-2437.
31. Merajver S.D., Pham T.M., Caduff R.F., Chen M., Poy E.L., Cooney K.A., et al. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nat Genet 1995, 9:439-443.
32. Takahashi H., Behbakht K., McGovern P.E., Chiu H.C., Couch F.J., Weber B.L., et al. Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer Res 1995, 55:2998-3002.
33. Matsushima M., Kobayashi K., Emi M., Saito H., Saito J., Suzumori K., et al. Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation. Hum Mol Genet 1995, 4:1953-1956.
34. Futreal P.A., Liu Q., Shattuck-Eidens D., Cochran C., Harshman K., Tavtigian S., et al. BRCA1 mutations in primary breast and ovarian carcinomas. Science 1994, 266:120-122.
35. Weberpals J.I., Clark-Knowles K.V., Vanderhyden B.C. Sporadic epithelial ovarian cancer: clinical relevance of BRCA1 inhibition in the DNA damage and repair pathway. J Clin Oncol 2008, 26:3259-3267.
36. Robson M.E., Chappuis P.O., Satagopan J., Wong N., Boyd J., Goffin J.R., et al. A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Res 2004, 6:R8-R17.
37. Goffin J.R., Chappuis P.O., Begin L.R., Wong N., Brunet J.S., Hamel N., et al. Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow up data. Cancer 2003, 97:527-536.
38. Brekelmans C.T.M., Seynaeve C., Menke-Pluymers M., Bruggenwirth H.T., Tilanus-Linthorst M.M.A., Bartels C.C.M., et al. Survival and prognostic factors in BRCA1-associated breast cancer. Ann Oncol 2006, 17:391-400.
39. Stoppa-Lyonnet D., Ansquer Y., Dreyfus H., Gautier C., Gauthier-Villars M., Bourstyn E., et al. Familial invasive breast cancers: worse outcome related to BRCA1 mutations. J Clin Oncol 2000, 18:4053-4059.
40. Lee J.S., Wacholder S., Struewing J.P., McAdams M., Pee D., Brody L.C., et al. Survival after breast cancer in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 1999, 91:259-263. [see comments].
41. Verhoog L.C., Brekelmans C.T., Seynaeve C., van den Bosch L.M., Dahmen G., van Geel A.N., et al. Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 1998, 351:316-321.
42. Narod S.A., Foulkes W.D. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004, 4:665-676.
43. Scully R., Livingston D. In search of the tumour-suppressor functions of BRCA1 and BRCA2. Nature 2000, 408:429-432.
44. Bertwistle D., Ashworth A. Functions of the BRCA1 and BRCA2 genes. Curr Opin Genet Dev 1998, 8:14-20.
45. Venkitaraman A.R. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 2002, 108:171-182.
46. Welcsh P.L., King M.C. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet 2001, 10:705-713.
47. Deng C.X., Brodie S.G. Roles of BRCA1 and its interacting proteins. Bioessays 2000, 22:728-737.
48. Dapic V., Monteiro A.N. Functional implications of BRCA1 for early detection, prevention, and treatment of breast cancer. Crit Rev Eukaryot Gene Expr 2006, 16:233-252.
49. Moynahan M.E., Chiu J.W., Koller B.H., Jasin M. Brca1 controls homology-directed DNA repair. Mol Cell 1999, 4:511-518.
50. Jackson S.P., Bartek J. The DNA-damage response in human biology and disease. Nature 2009, 461:1071-1078.
51. Arnaudeau C., Lundin C., Helleday T. DNA double-strand breaks associated with replication forks are predominantly repaired by homologous recombination involving an exchange mechanism in mammalian cells. J Mol Biol 2001, 307:1235-1245.
52. Paull T.T., Rogakou E.P., Yamazaki V., Kirchgessner C.U., Gellert M., Bonner W.M. A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage. Curr Biol 2000, 10:886-895.
53. Rogakou E.P., Pilch D.R., Orr A.H., Ivanova V.S., Bonner W.M. DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139. J Biol Chem 1998, 273:5858-5868.
54. Rogakou E.P., Boon C., Redon C., Bonner W.M. Megabase chromatin domains involved in DNA double-strand breaks in vivo. J Cell Biol 1999, 146:905-916.
55. Bhattacharyya A., Ear U.S., Koller B.H., Weichselbaum R.R., Bishop D.K. The breast cancer susceptibility gene BRCA1 is required for subnuclear assembly of Rad51 and survival following treatment with the DNA cross-linking agent cisplatin. J Biol Chem 2000, 275:23899-23903.
56. Lundin C., Schultz N., Arnaudeau C., Mohindra A., Hansen L.T., Helleday T. RAD51 is involved in repair of damage associated with DNA replication in mammalian cells. J Mol Biol 2003, 328:521-535.
57. Scully R., Chen J., Plug A., Xiao Y., Weaver D., Feunteun J., et al. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 1997, 88:265-275.
58. Baumann P., Benson F.E., West S.C. Human Rad51 protein promotes ATP-dependent homologous pairing and strand transfer reactions in vitro. Cell 1996, 87:757-766.
59. Deng C.X. BRCA1: cell cycle checkpoint, genetic instability, DNA damage response and cancer evolution. Nucleic Acids Res 2006, 34:1416-1426.
60. Monteiro A.N. BRCA1: exploring the links to transcription. Trends Biochem Sci 2000, 25:469-474.
61. Monteiro A.N. Participation of BRCA1 in the DNA repair response... via transcription. Cancer Biol Ther 2002, 1:187-188.
62. Ouchi T., Monteiro A.N., August A., Aaronson S.A., Hanafusa H. BRCA1 regulates p53-dependent gene expression. Proc Natl Acad Sci USA 1998, 95:2302-2306.
63. MacLachlan T.K., Somasundaram K., Sgagias M., Shifman Y., Muschel R.J., Cowan K.H., et al. BRCA1 effects on the cell cycle and the DNA damage response are linked to altered gene expression. J Biol Chem 2000, 275:2777-2785. [in Process Citation].
64. MacLachlan T.K., Takimoto R., El-Deiry W.S. BRCA1 directs a selective p53-dependent transcriptional response towards growth arrest and DNA repair targets. Mol Cell Biol 2002, 22:4280-4292.
65. Somasundaram K., Zhang H., Zeng Y.X., Houvras Y., Peng Y., Zhang H., et al. Arrest of the cell cycle by the tumour-suppressor BRCA1 requires the CDK-inhibitor p21WAF1/CiP1. Nature 1997, 389:187-190.
66. Takimoto R., MacLachlan T.K., Dicker D.T., Niitsu Y., Mori T., El Deiry W.S. BRCA1 transcriptionally regulates damaged DNA binding protein (DDB2) in the DNA repair response following UV-irradiation. Cancer Biol Ther 2002, 1:177-186.
67. Zhang H., Somasundaram K., Peng Y., Tian H., Zhang H., Bi D., et al. BRCA1 physically associates with p53 and stimulates its transcriptional activity. Oncogene 1998, 16:1713-1721.
68. Welcsh P.L., Owens K.N., King M.C. Insights into the functions of BRCA1 and BRCA2. Trends Genet 2000, 16:69-74.
69. Welcsh P.L., Lee M.K., Gonzalez-Hernandez R.M., Black D.J., Mahadevappa M., Swisher E.M., et al. BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci USA 2002, 99:7560-7565.
70. Quinn J.E., Kennedy R.D., Mullan P.B., Gilmore P.M., Carty M., Johnston P.G., et al. BRCA1 functions as a differential modulator of chemotherapy-induced apoptosis. Cancer Res 2003, 63:6221-6228.
71. Yamada H.Y., Gorbsky G.J. Spindle checkpoint function and cellular sensitivity to antimitotic drugs. Mol Cancer Ther 2006, 5:2963-2969.
72. Schiff P.B., Horwitz S.B. Taxol stabilizes microtubules in mouse fibroblast cells. Proc Natl Acad Sci USA 1980, 77:1561-1565.
73. Jordan M.A., Toso R.J., Thrower D., Wilson L. Mechanism of mitotic block and inhibition of cell proliferation by taxol at low concentrations. Proc Natl Acad Sci USA 1993, 90:9552-9556.
74. Long B.H., Fairchild C.R. Paclitaxel inhibits progression of mitotic cells to G1 phase by interference with spindle formation without affecting other microtubule functions during anaphase and telephase. Cancer Res 1994, 54:4355-4361.
75. Jordan M.A., Wendell K., Gardiner S., Derry W.B., Copp H., Wilson L. Mitotic block induced in HeLa cells by low concentrations of paclitaxel (Taxol) results in abnormal mitotic exit and apoptotic cell death. Cancer Res 1996, 56:816-825.
76. Trielli M.O., Andreassen P.R., Lacroix F.B., Margolis R.L. Differential Taxol-dependent arrest of transformed and nontransformed cells in the G1 phase of the cell cycle, and specific-related mortality of transformed cells. J Cell Biol 1996, 135:689-700.
77. Wassmann K., Benezra R. Mitotic checkpoints: from yeast to cancer. Curr Opin Genet Dev 2001, 11:83-90.
78. Sudo T., Nitta M., Saya H., Ueno N.T. Dependence of paclitaxel sensitivity on a functional spindle assembly checkpoint. Cancer Res 2004, 64:2502-2508.
79. Anand S., Penrhyn-Lowe S., Venkitaraman A.R. AURORA-A amplification overrides the mitotic spindle assembly checkpoint, inducing resistance to Taxol. Cancer Cell 2003, 3:51-62.
80. Gascoigne K.E., Taylor S.S. Cancer cells display profound intra- and interline variation following prolonged exposure to antimitotic drugs. Cancer Cell 2008, 14:111-122.
81. Shi J., Orth J.D., Mitchison T. Cell type variation in responses to antimitotic drugs that target microtubules and kinesin-5. Cancer Res 2008, 68:3269-3276.
82. McGuire W.P., Rowinsky E.K., Rosenshein N.B., Grumbine F.C., Ettinger D.S., Armstrong D.K., et al. Taxol: a unique antineoplastic agent with significant activity in advanced ovarian epithelial neoplasms. Ann Intern Med 1989, 111:273-279.
83. De Ligio J.T., Velkova A., Zorio D.A., Monteiro A.N. Can the status of the breast and ovarian cancer susceptibility gene 1 product (BRCA1) predict response to taxane-based cancer therapy?. Anticancer Agents Med Chem 2009, 9:543-549.
84. Mullan P.B., Quinn J.E., Gilmore P.M., McWilliams S., Andrews H., Gervin C., et al. BRCA1 and GADD45 mediated G2/M cell cycle arrest in response to antimicrotubule agents. Oncogene 2001, 20:6123-6131.
85. Lafarge S., Sylvain V., Ferrara M., Bignon Y.J. Inhibition of BRCA1 leads to increased chemoresistance to microtubule-interfering agents, an effect that involves the JNK pathway. Oncogene 2001, 20:6597-6606.
86. Chabalier C., Lamare C., Racca C., Privat M., Valette A., Larminat F. BRCA1 downregulation leads to premature inactivation of spindle checkpoint and confers paclitaxel resistance. Cell Cycle 2006, 5:1001-1007.
87. Gilmore P.M., McCabe N., Quinn J.E., Kennedy R.D., Gorski J.J., Andrews H.N., et al. BRCA1 interacts with and is required for paclitaxel-induced activation of mitogen-activated protein kinase kinase kinase 3. Cancer Res 2004, 64:4148-4154.
88. Tassone P., Tagliaferri P., Perricelli A., Blotta S., Quaresima B., Martelli M.L., et al. BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells. Br J Cancer 2003, 88:1285-1291.
89. Gilmore P.M., Quinn J.E., Mullan P.B., Andrews H.N., McCabe N., Carty M., et al. Role played by BRCA1 in regulating the cellular response to stress. Biochem Soc Trans 2003, 31:257-262.
90. Harkin D.P., Bean J.M., Miklos D., Song Y.H., Truong V.B., Englert C., et al. Induction of GADD45 and JNK/SAPK-dependent apoptosis following inducible expression of BRCA1. Cell 1999, 97:575-586.
91. Rosell R., Skrzypski M., Jassem E., Taron M., Bartolucci R., Sanchez J.J., et al. BRCA1: a novel prognostic factor in resected non-small-cell lung cancer. PLoS One 2007, 2:e1129.
92. Bartolucci R., Wei J., Sanchez J.J., Perez-Roca L., Chaib I., Puma F., et al. XPG mRNA expression levels modulate prognosis in resected non-small-cell lung cancer in conjunction with BRCA1 and ERCC1 expression. Clin Lung Cancer 2009, 10:47-52.
93. Taron M., Rosell R., Felip E., Mendez P., Souglakos J., Ronco M.S., et al. BRCA1 mRNA expression levels as an indicator of chemoresistance in lung cancer. Hum Mol Genet 2004, 13:2443-2449.
94. Wachters F.M., Wong L.S.M., Timens W., Kampinga H.H., Groen H.J.M. ERCC1, hRad51, and BRCA1 protein expression in relation to tumour response and survival of stage III/IV NSCLC patients treated with chemotherapy. Lung Cancer 2005, 50:211-219.
95. Wang L., Wei J., Qian X., Yin H., Zhao Y., Yu L., et al. ERCC1 and BRCA1 mRNA expression levels in metastatic malignant effusions is associated with chemosensitivity to cisplatin and/or docetaxel. BMC Cancer 2008, 8:97.
96. Boukovinas I., Papadaki C., Mendez P., Taron M., Mavroudis D., Koutsopoulos A., et al. Tumor BRCA1, RRM1 and RRM2 mRNA expression levels and clinical response to first-line gemcitabine plus docetaxel in non-small-cell lung cancer patients. PLoS One 2008, 3:e3695.
97. Quinn J.E., James C.R., Stewart G.E., Mulligan J.M., White P., Chang G.K.F., et al. BRCA1 mRNA expression levels predict for overall survival in ovarian cancer after chemotherapy. Clin Cancer Res 2007, 13:7413-7420.
98. Husain A., He G., Venkatraman E.S., Spriggs D.R. BRCA1 up-regulation is associated with repair-mediated resistance to cis-diamminedichloroplatinum(II). Cancer Res 1998, 58:1120-1123.
99. Stordal B., Davey R. A systematic review of genes involved in the inverse resistance relationship between cisplatin and paclitaxel chemotherapy: role of BRCA1. Curr Cancer Drug Targets 2009, 9:354-365.
100. Chu G. Cellular responses to cisplatin. The roles of DNA-binding proteins and DNA repair. J Biol Chem 1994, 269:787-790.
101. Helleday T., Petermann E., Lundin C., Hodgson B., Sharma R.A. DNA repair pathways as targets for cancer therapy. Nat Rev Cancer 2008, 8:193-204.
102. McHugh P.J., Sones W.R., Hartley J.A. Repair of intermediate structures produced at DNA interstrand cross-links in Saccharomyces cerevisiae. Mol Cell Biol 2000, 20:3425-3433.
103. Sargent R.G., Brenneman M.A., Wilson J.H. Repair of site-specific double-strand breaks in a mammalian chromosome by homologous and illegitimate recombination. Mol Cell Biol 1997, 17:267-277.
104. Phillips J.W., Morgan W.F. Illegitimate recombination induced by DNA double-strand breaks in a mammalian chromosome. Mol Cell Biol 1994, 14:5794-5803.
105. Plooy A.C., van D.M., Berends F., Lohman P.H. Formation and repair of DNA interstrand cross-links in relation to cytotoxicity and unscheduled DNA synthesis induced in control and mutant human cells treated with cis-diamminedichloroplatinum(II). Cancer Res 1985, 45:4178-4184.
106. Rosenberg B. Fundamental studies with cisplatin. Cancer 1985, 55:2303-2306.
107. Kelland L. The resurgence of platinum-based cancer chemotherapy. Nat Rev Cancer 2007, 7:573-584.
108. Kennedy R.D., Quinn J.E., Mullan P.B., Johnston P.G., Harkin D.P. The role of BRCA1 in the cellular response to chemotherapy. J Natl Cancer Inst 2004, 96:1659-1668.
109. Fedier A., Steiner R.A., Schwarz V.A., Lenherr L., Haller U., Fink D. The effect of loss of Brca1 on the sensitivity to anticancer agents in p53-deficient cells. Int J Oncol 2003, 22:1169-1173.
110. Sylvain V., Lafarge S., Bignon Y.J. Dominant-negative activity of a Brca1 truncation mutant: effects on proliferation, tumorigenicity in vivo, and chemosensitivity in a mouse ovarian cancer cell line. Int J Oncol 2002, 20:845-853.
111. Chappuis P.O., Goffin J., Wong N., Perret C., Ghadirian P., Tonin P.N., et al. A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer. J Med Genet 2002, 39:608-610.
112. Shafee N., Smith C.R., Wei S., Kim Y., Mills G.B., Hortobagyi G.N., et al. Cancer stem cells contribute to cisplatin resistance in Brca1/p53-mediated mouse mammary tumors. Cancer Res 2008, 68:3243-3250.
113. Tassone P., Di Martino M.T., Ventura M., Pietragalla A., Cucinotto I., Calimeri T., et al. Loss of BRCA1 function increases the antitumor activity of cisplatin against human breast cancer xenografts in vivo. Cancer Biol Ther 2009, 8:648-653.
114. Moiseyenko V.M., Protsenko S.A., Brezhnev N.V., Maximov S.Y., Gershveld E.D., Hudyakova M.A., et al. High sensitivity of BRCA1-associated tumors to cisplatin monotherapy: report of two cases. Cancer Genet Cytogenet 2010, 197:91-94.
115. Byrski T., Gronwald J., Huzarski T., Grzybowska E., Budryk M., Stawicka M., et al. Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol 2010, 28:375-379.
116. Byrski T., Huzarski T., Dent R., Gronwald J., Zuziak D., Cybulski C., et al. Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 2009, 115:359-363.
117. Silver D.P., Richardson A.L., Eklund A.C., Wang Z.C., Szallasi Z., Li Q., et al. Efficacy of neoadjuvant cisplatin in triple-negative breast cancer. J Clin Oncol 2010, 28:1145-1153.
118. Borst P., Rottenberg S., Jonkers J. How do real tumors become resistant to cisplatin?. Cell Cycle 2008, 7:1353-1359.
119. Edwards S.L., Brough R., Lord C.J., Natrajan R., Vatcheva R., Levine D.A., et al. Resistance to therapy caused by intragenic deletion in BRCA2. Nature 2008, 451:1111-1115.
120. Sakai W., Swisher E.M., Jacquemont C., Chandramohan K.V., Couch F.J., Langdon S.P., et al. Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma. Cancer Res 2009, 69:6381-6386.
121. Sakai W., Swisher E.M., Karlan B.Y., Agarwal M.K., Higgins J., Friedman C., et al. Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers. Nature 2008, 451:1116-1120.
122. Swisher E.M., Sakai W., Karlan B.Y., Wurz K., Urban N., Taniguchi T. Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance. Cancer Res 2008, 68:2581-2586.
123. Ashworth A. Drug resistance caused by reversion mutation. Cancer Res 2008, 68:10021-10023.
124. Dobzhansky T. Genetics of natural populations. XIII. Recombination and variability in populations of Drosophila pseudoobscura. Genetics 1946, 31:269-290.
125. Lucchesi J.C. Synthetic lethality and semi-lethality among functionally related mutants of Drosophila melanogaster. Genetics 1968, 59:37-44.
126. Pan X., Ye P., Yuan D.S., Wang X., Bader J.S., Boeke J.D. A DNA integrity network in the yeast Saccharomyces cerevisiae. Cell 2006, 124:1069-1081.
127. Boone C., Bussey H., Andrews B.J. Exploring genetic interactions and networks with yeast. Nat Rev Genet 2007, 8:437-449.
128. Hartman J.L., Garvik B., Hartwell L. Principles for the buffering of genetic variation. Science 2001, 291:1001-1004.
129. Farmer H., McCabe N., Lord C.J., Tutt A.N., Johnson D.A., Richardson T.B., et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 2005, 434:917-921.
130. de Murcia J.Mn., Niedergang C., Trucco C., Ricoul M.l., Dutrillaux B., Mark M., et al. Requirement of poly(ADP-ribose) polymerase in recovery from DNA damage in mice and in cells. Proc Natl Acad Sci USA 1997, 94:7303-7307.
131. Wang Z.Q., Stingl L., Morrison C., Jantsch M., Los M., Schulze-Osthoff K., et al. PARP is important for genomic stability but dispensable in apoptosis. Genes Dev 1997, 11:2347-2358.
132. Conde C., Mark M., Oliver F.J., Huber A., de Murcia G., Menissier-de Murcia J. Loss of poly(ADP-ribose) polymerase-1 causes increased tumour latency in p53-deficient mice. EMBO J 2001, 20:3535-3543.
133. Schultz N., Lopez E., Saleh-Gohari N., Helleday T. Poly(ADP-ribose) polymerase (PARP-1) has a controlling role in homologous recombination. Nucleic Acids Res 2003, 31:4959-4964.
134. Dantzer F., Schreiber V., Niedergang C., Trucco C., Flatter E., De La Rubia G., et al. Involvement of poly(ADP-ribose) polymerase in base excision repair. Biochimie 1999, 81:69-75.
135. Wang Z.Q., Auer B., Stingl L., Berghammer H., Haidacher D., Schweiger M., et al. Mice lacking ADPRT and poly(ADP-ribosyl)ation develop normally but are susceptible to skin disease. Genes Dev 1995, 9:509-520.
136. Ding R., Pommier Y., Kang V.H., Smulson M. Depletion of poly(ADP-ribose) polymerase by antisense RNA expression results in a delay in DNA strand break rejoining. J Biol Chem 1992, 267:12804-12812.
137. Petrini J.H. The mammalian Mre11-Rad50-nbs1 protein complex: integration of functions in the cellular DNA-damage response. Am J Hum Genet 1999, 64:1264-1269.
138. Ferguson D.O., Alt F.W. DNA double strand break repair and chromosomal translocation: lessons from animal models. Oncogene 2001, 20:5572-5579.
139. Khanna K.K., Jackson S.P. DNA double-strand breaks: signaling, repair and the cancer connection. Nat Genet 2001, 27:247-254.
140. D'Amours D., Jackson S.P. The Mre11 complex: at the crossroads of dna repair and checkpoint signalling. Nat Rev Mol Cell Biol 2002, 3:317-327.
141. Moynahan M.E., Pierce A.J., Jasin M. BRCA2 is required for homology-directed repair of chromosomal breaks. Mol Cell 2001, 7:263-272.
142. Tutt A., Bertwistle D., Valentine J., Gabriel A., Swift S., Ross G., et al. Mutation in Brca2 stimulates error-prone homology-directed repair of DNA double-strand breaks occurring between repeated sequences. EMBO J 2001, 20:4704-4716.
143. Bryant H.E., Schultz N., Thomas H.D., Parker K.M., Flower D., Lopez E., et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature 2005, 434:913-917.
144. Rottenberg S., Jaspers J.E., Kersbergen A., van der Burg E., Nygren A.O., Zander S.A., et al. High sensitivity of BRCA1-deficient mammary tumors to the PARP inhibitor AZD2281 alone and in combination with platinum drugs. Proc Natl Acad Sci USA 2008, 105:17079-17084.
145. Miknyoczki S.J., Jones-Bolin S., Pritchard S., Hunter K., Zhao H., Wan W., et al. Chemopotentiation of temozolomide, irinotecan, and cisplatin activity by CEP-6800, a poly(ADP-ribose) polymerase inhibitor. Mol Cancer Ther 2003, 2:371-382.
146. Donawho C.K., Luo Y., Luo Y., Penning T.D., Bauch J.L., Bouska J.J., et al. ABT-888, an orally active poly(ADP-ribose) polymerase inhibitor that potentiates DNA-damaging agents in preclinical tumor models. Clin Cancer Res 2007, 13:2728-2737.
147. Fong P.C., Boss D.S., Yap T.A., Tutt A., Wu P., Mergui-Roelvink M., et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 2009, 361:123-134.
148. Southan G.J., Szabo C. Poly(ADP-ribose) polymerase inhibitors. Curr Med Chem 2003, 10:321-340.
149. Rankin P.W., Jacobson E.L., Benjamin R.C., Moss J., Jacobson M.K. Quantitative studies of inhibitors of ADP-ribosylation in vitro and in vivo. J Biol Chem 1989, 264:4312-4317.
150. Ratnam K., Low J.A. Current development of clinical inhibitors of poly(ADP-ribose) polymerase in oncology. Clin Cancer Res 2007, 13:1383-1388.
151. Mendes-Pereira A.M., Martin S.A., Brough R., McCarthy A., Taylor J.R., Kim J.S., et al. Synthetic lethal targeting of PTEN mutant cells with PARP inhibitors. EMBO Mol Med 2009, 1:315-322.
152. Bartz S.R., Zhang Z., Burchard J., Imakura M., Martin M., Palmieri A., et al. Small interfering RNA screens reveal enhanced cisplatin cytotoxicity in tumor cells having both BRCA network and TP53 disruptions. Mol Cell Biol 2006, 26:9377-9386.
153. Kaelin W.G. The concept of synthetic lethality in the context of anticancer therapy. Nat Rev Cancer 2005, 5:689-698.
154. Kennedy R.D., D'Andrea A.D. DNA repair pathways in clinical practice: lessons from pediatric cancer susceptibility syndromes. J Clin Oncol 2006, 24:3799-3808.