Defective homologous recombination in human cancers

Cancer Treatment Reviews

Volumn 38, Issue 2, 2012, Pages 89-100

  Cerbinskaite, A ^a   Mukhopadhyay, A ^a,b   Plummer, E R ^a   Curtin, N J ^a   Edmondson, R J ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b QUEEN ELIZABETH HOSPITAL   (United Kingdom)

Author keywords

ATM; ATR; BRCA; DNA repair; FANC; Homologous recombination; MRE11; NSB1; RAD50; RAD51

Indexed keywords

2 MORPHOLINO 6 (1 THIANTHRENYL) 4 PYRANONE; 2,6 DIAMINO 4 CYCLOHEXYLMETHOXY 5 NITROSOPYRIMIDINE; ANTINEOPLASTIC AGENT; ATM PROTEIN; ATR PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; DNA; FANCONI ANEMIA PROTEIN; MRE11 PROTEIN; NIBRIN; NIRAPARIB; OLAPARIB; RAD50 PROTEIN; RAD51 PROTEIN; RUCAPARIB; UNCLASSIFIED DRUG; VELIPARIB; XRCC2 PROTEIN; XRCC3 PROTEIN;

ANTINEOPLASTIC ACTIVITY; BREAST CANCER; CANCER CELL CULTURE; CANCER CHEMOTHERAPY; CANCER RISK; CANCER SURVIVAL; CYTOTOXICITY; DNA DAMAGE; DNA REPAIR; DRUG EFFICACY; EPIGENETICS; FATIGUE; GENE FREQUENCY; GENE MUTATION; GENE SILENCING; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOMIC INSTABILITY; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HUMAN; INTESTINE CANCER; MICROSATELLITE INSTABILITY; NAUSEA AND VOMITING; OVARY CANCER; PANCREAS CANCER; PROSTATE CANCER; PROTEIN PHOSPHORYLATION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

DNA BREAKS, DOUBLE-STRANDED; DNA REPAIR; FEMALE; HOMOLOGOUS RECOMBINATION; HUMANS; MALE; NEOPLASMS;

EID: 84856316429     PISSN: 03057372     EISSN: 15321967     Source Type: Journal    
DOI: 10.1016/j.ctrv.2011.04.015     Document Type: Review

References (248)

1. Kastan M.B., Bartek J. Cell-cycle checkpoints and cancer. Nature 2004, 432(7015):316-323.
2. Kennedy R.D., D'Andrea A.D. DNA repair pathways in clinical practice: lessons from pediatric cancer susceptibility syndromes. J Clin Oncol 2006, 24(23):3799-3808.
3. Lengauer C., Kinzler K.W., Vogelstein B. Genetic instabilities in human cancers. Nature 1998, 396(6712):643-649.
4. Macaluso M., Montanari M., Cinti C., Giordano A. Modulation of cell cycle components by epigenetic and genetic events. Semin Oncol 2005, 32(5):452-457.
5. Bartkova J., Horejsi Z., Koed K., et al. DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis. Nature 2005, 434(7035):864-870.
6. Lindahl T. Instability and decay of the primary structure of DNA. Nature 1993, 362(6422):709-715.
7. Khanna K.K., Jackson S.P. DNA double-strand breaks: signaling, repair and the cancer connection. Nat Genet 2001, 27(3):247-254.
8. Kaelin W.G. The concept of synthetic lethality in the context of anticancer therapy. Nat Rev Cancer 2005, 5(9):689-698.
9. Ashworth A. A synthetic lethal therapeutic approach: poly(ADP) ribose polymerase inhibitors for the treatment of cancers deficient in DNA double-strand break repair. J Clin Oncol 2008, 26(22):3785-3790.
10. Noel G., Giocanti N., Fernet M., Megnin-Chanet F., Favaudon V. Poly(ADP-ribose) polymerase (PARP-1) is not involved in DNA double-strand break recovery. BMC Cell Biol 2003, 4:7.
11. Haber J.E. DNA recombination: the replication connection. Trends Biochem Sci 1999, 24(7):271-275.
12. Gudmundsdottir K., Ashworth A. The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability. Oncogene 2006, 25(43):5864-5874.
13. Bryant H.E., Schultz N., Thomas H.D., et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature 2005, 434(7035):913-917.
14. Farmer H., McCabe N., Lord C.J., et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 2005, 434(7035):917-921.
15. Plummer R., Jones C., Middleton M., et al. Phase I study of the poly(ADP-ribose) polymerase inhibitor, AG014699, in combination with temozolomide in patients with advanced solid tumors. Clin Cancer Res 2008, 14(23):7917-7923.
16. Fong P.C., Boss D.S., Yap T.A., et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 2009, 361(2):123-134.
17. Tuma R.S. Combining carefully selected drug, patient genetics may lead to total tumor death. J Natl Cancer Inst 2007, 99(20):1505-1506. 1509.
18. Tutt A., Robson M., Garber J.E., et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 2010, 376(9737):235-244.
19. Drew Y., Plummer R. The emerging potential of poly(ADP-ribose) polymerase inhibitors in the treatment of breast cancer. Curr Opin Obstet Gynecol 2010, 22(1):67-71.
20. Audeh M.W., Carmichael J., Penson R.T., et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet 2010, 376(9737):245-251.
21. McCabe N., Turner N.C., Lord C.J., et al. Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition. Cancer Res 2006, 66(16):8109-8115.
22. Turner N., Tutt A., Ashworth A. Hallmarks of 'BRCAness' in sporadic cancers. Nat Rev Cancer 2004, 4(10):814-819.
23. Helleday T. Homologous recombination in cancer development, treatment and development of drug resistance. Carcinogenesis 2010, 31(6):955-960.
24. Jacquemont C., Taniguchi T. Proteasome function is required for DNA damage response and fanconi anemia pathway activation. Cancer Res 2007, 67(15):7395-7405.
25. Hartlerode A.J., Scully R. Mechanisms of double-strand break repair in somatic mammalian cells. Biochem J 2009, 423(2):157-168.
26. Paull T.T., Lee J.H. The Mre11/Rad50/Nbs1 complex and its role as a DNA double-strand break sensor for ATM. Cell Cycle 2005, 4(6):737-740.
27. Zhong Q., Chen C.F., Li S., et al. Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. Science 1999, 285(5428):747-750.
28. You Z., Chahwan C., Bailis J., Hunter T., Russell P. ATM activation and its recruitment to damaged DNA require binding to the C terminus of Nbs1. Mol Cell Biol 2005, 25(13):5363-5379.
29. Chistiakov D.A., Voronova N.V., Chistiakov P.A. Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients. Acta Oncol 2008, 47(5):809-824.
30. Sung P., Klein H. Mechanism of homologous recombination: mediators and helicases take on regulatory functions. Nat Rev Mol Cell Biol 2006, 7(10):739-750.
31. Zhang F., Ma J., Wu J., et al. PALB2 links BRCA1 and BRCA2 in the DNA-damage response. Curr Biol 2009, 19(6):524-529.
32. Sy S.M., Huen M.S., Chen J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci USA 2009, 106(17):7155-7160.
33. Moynahan M.E., Pierce A.J., Jasin M. BRCA2 is required for homology-directed repair of chromosomal breaks. Mol Cell 2001, 7(2):263-272.
34. Davies A.A., Masson J.Y., McIlwraith M.J., et al. Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Mol Cell 2001, 7(2):273-282.
35. Cortez D., Wang Y., Qin J., Elledge S.J. Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. Science 1999, 286(5442):1162-1166.
36. Bugreev D.V., Mazina O.M., Mazin A.V. Rad54 protein promotes branch migration of Holliday junctions. Nature 2006, 442(7102):590-593.
37. Wu L., Hickson I.D. The Bloom's syndrome helicase suppresses crossing over during homologous recombination. Nature 2003, 426(6968):870-874.
38. Bohr V.A. Rising from the RecQ-age: the role of human RecQ helicases in genome maintenance. Trends Biochem Sci 2008, 33(12):609-620.
39. Ip S.C., Rass U., Blanco M.G., Flynn H.R., Skehel J.M., West S.C. Identification of Holliday junction resolvases from humans and yeast. Nature 2008, 456(7220):357-361.
40. Hoeijmakers J.H. Genome maintenance mechanisms for preventing cancer. Nature 2001, 411(6835):366-374.
41. Pellegrini L., Yu D.S., Lo T., et al. Insights into DNA recombination from the structure of a RAD51-BRCA2 complex. Nature 2002, 420(6913):287-293.
42. Bishop A.J., Schiestl R.H. Homologous recombination and its role in carcinogenesis. J Biomed Biotechnol 2002, 2(2):75-85.
43. Ban S., Shinohara T., Hirai Y., Moritaku Y., Cologne J.B., MacPhee D.G. Chromosomal instability in BRCA1- or BRCA2-defective human cancer cells detected by spontaneous micronucleus assay. Mutat Res 2001, 474(1-2):15-23.
44. Wooster R., Weber B.L. Breast and ovarian cancer. N Engl J Med 2003, 348(23):2339-2347.
45. King M.C., Marks J.H., Mandell J.B. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003, 302(5645):643-646.
46. Brose M.S., Rebbeck T.R., Calzone K.A., Stopfer J.E., Nathanson K.L., Weber B.L. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 2002, 94(18):1365-1372.
47. Murphy K.M., Brune K.A., Griffin C., et al. Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. Cancer Res 2002, 62(13):3789-3793.
48. Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999;91(15):1310-16.
49. Berman D.B., Costalas J., Schultz D.C., Grana G., Daly M., Godwin A.K. A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. Cancer Res 1996, 56(15):3409-3414.
50. Narayan G., Arias-Pulido H., Koul S., et al. Frequent promoter methylation of CDH1, DAPK, RARB, and HIC1 genes in carcinoma of cervix uteri: its relationship to clinical outcome. Mol Cancer 2003, 2:24.
51. Marsit C.J., Liu M., Nelson H.H., Posner M., Suzuki M., Kelsey K.T. Inactivation of the Fanconi anemia/BRCA pathway in lung and oral cancers: implications for treatment and survival. Oncogene 2004, 23(4):1000-1004.
52. Risch H.A., McLaughlin J.R., Cole D.E., et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 2006, 98(23):1694-1706.
53. Ford D., Easton D.F., Stratton M., 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(3):676-689.
54. De Leon Matsuda M.L., Liede A., Kwan E., et al. BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines. Int J Cancer 2002, 98(4):596-603.
55. Nedelcu R., Liede A., Aube J., et al. BRCA mutations in Italian breast/ovarian cancer families. Eur J Hum Genet 2002, 10(2):150-152.
56. Warner E., Foulkes W., Goodwin P., et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999, 91(14):1241-1247.
57. Langston A.A., Malone K.E., Thompson J.D., Daling J.R., Ostrander E.A. BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med 1996, 334(3):137-142.
58. Malone K.E., Daling J.R., Neal C., et al. Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer 2000, 88(6):1393-1402.
59. Gonzalez R., Silva J.M., Dominguez G., et al. Detection of loss of heterozygosity at RAD51, RAD52, RAD54 and BRCA1 and BRCA2 loci in breast cancer: pathological correlations. Br J Cancer 1999, 81(3):503-509.
60. Ding S.L., Sheu L.F., Yu J.C., et al. Abnormality of the DNA double-strand-break checkpoint/repair genes, ATM, BRCA1 and TP53, in breast cancer is related to tumour grade. Br J Cancer 2004, 90(10):1995-2001.
61. Johnson S.M., Shaw J.A., Walker R.A. Sporadic breast cancer in young women: prevalence of loss of heterozygosity at p53, BRCA1 and BRCA2. Int J Cancer 2002, 98(2):205-209.
62. Catteau A., Morris J.R. BRCA1 methylation: a significant role in tumour development?. Semin Cancer Biol 2002, 12(5):359-371.
63. Esteller M., Silva J.M., Dominguez G., et al. Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors. J Natl Cancer Inst 2000, 92(7):564-569.
64. Jacinto F.V., Esteller M. Mutator pathways unleashed by epigenetic silencing in human cancer. Mutagenesis 2007, 22(4):247-253.
65. Healey C.S., Dunning A.M., Teare M.D., et al. A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nat Genet 2000, 26(3):362-364.
66. Auranen A., Spurdle A.B., Chen X., et al. BRCA2 Arg372Hispolymorphism and epithelial ovarian cancer risk. Int J Cancer 2003, 103(3):427-430.
67. Liede A., Karlan B.Y., Narod S.A. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol 2004, 22(4):735-742.
68. Frank T.S., Deffenbaugh A.M., Reid J.E., et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002, 20(6):1480-1490.
69. Thorlacius S., Sigurdsson S., Bjarnadottir H., et al. Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet 1997, 60(5):1079-1084.
70. Thorlacius S., Struewing J.P., Hartge P., et al. Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 1998, 352(9137):1337-1339.
71. Ottini L., Masala G., D'Amico C., et al. BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy. Cancer Res 2003, 63(2):342-347.
72. Struewing J.P., Coriaty Z.M., Ron E., et al. Founder BRCA1/2 mutations among male patients with breast cancer in Israel. Am J Hum Genet 1999, 65(6):1800-1802.
73. Struewing J.P., Abeliovich D., Peretz T., et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995, 11(2):198-200.
74. Rubin S.C., Blackwood M.A., Bandera C., et al. BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship to family history and implications for genetic testing. Am J Obstet Gynecol 1998, 178(4):670-677.
75. Van Der Looij M., Szabo C., Besznyak I., et al. Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary. Int J Cancer 2000, 86(5):737-740.
76. Khoo U.S., Ngan H.Y., Cheung A.N., et al. Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations. Hum Mutat 2000, 16(1):88-89.
77. Matsushima M., Kobayashi K., Emi M., 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(10):1953-1956.
78. Takahashi H., Behbakht K., McGovern P.E., et al. Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer Res 1995, 55(14):2998-3002.
79. Risch H.A., McLaughlin J.R., Cole D.E., et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001, 68(3):700-710.
80. Stratton J.F., Gayther S.A., Russell P., et al. Contribution of BRCA1 mutations to ovarian cancer. N Engl J Med 1997, 336(16):1125-1130.
81. Janezic S.A., Ziogas A., Krumroy L.M., et al. Germline BRCA1 alterations in a population-based series of ovarian cancer cases. Hum Mol Genet 1999, 8(5):889-897.
82. Foster K.A., Harrington P., Kerr J., et al. Somatic and germline mutations of the BRCA2 gene in sporadic ovarian cancer. Cancer Res 1996, 56(16):3622-3625.
83. Takahashi H., Chiu H.C., Bandera C.A., et al. Mutations of the BRCA2 gene in ovarian carcinomas. Cancer Res 1996, 56(12):2738-2741.
84. Pal T., Permuth-Wey J., Betts J.A., et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 2005, 104(12):2807-2816.
85. Teodoridis J.M., Hall J., Marsh S., et al. CpG island methylation of DNA damage response genes in advanced ovarian cancer. Cancer Res 2005, 65(19):8961-8967.
86. Hilton J.L., Geisler J.P., Rathe J.A., Hattermann-Zogg M.A., DeYoung B., Buller R.E. Inactivation of BRCA1 and BRCA2 in ovarian cancer. J Natl Cancer Inst 2002, 94(18):1396-1406.
87. Boyd J., Sonoda Y., Federici M.G., et al. Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. JAMA 2000, 283(17):2260-2265.
88. Moslehi R., Chu W., Karlan B., et al. BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer. Am J Hum Genet 2000, 66(4):1259-1272.
89. Muto M.G., Cramer D.W., Tangir J., Berkowitz R., Mok S. Frequency of the BRCA1 185delAG mutation among Jewish women with ovarian cancer and matched population controls. Cancer Res 1996, 56(6):1250-1252.
90. Gotlieb W.H., Friedman E., Bar-Sade R.B., et al. Rates of Jewish ancestral mutations in BRCA1 and BRCA2 in borderline ovarian tumors. J Natl Cancer Inst 1998, 90(13):995-1000.
91. Real F.X., Malats N., Lesca G., et al. Family history of cancer and germline BRCA2 mutations in sporadic exocrine pancreatic cancer. Gut 2002, 50(5):653-657.
92. Lal G., Liu G., Schmocker B., et al. Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations. Cancer Res 2000, 60(2):409-416.
93. Goggins M., Schutte M., Lu J., et al. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res 1996, 56(23):5360-5364.
94. Ozcelik H., Schmocker B., Di Nicola N., et al. Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients. Nat Genet 1997, 16(1):17-18.
95. Hahn S.A., Greenhalf B., Ellis I., et al. BRCA2 germline mutations in familial pancreatic carcinoma. J Natl Cancer Inst 2003, 95(3):214-221.
96. Thompson D., Easton D.F. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002, 94(18):1358-1365.
97. van der Heijden M.S., Brody J.R., Elghalbzouri-Maghrani E., Zdzienicka M.Z., Kern S.E. Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11? Considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers. BMC Genet 2006, 7:3.
98. Edwards S.M., Kote-Jarai Z., Meitz J., et al. Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 2003, 72(1):1-12.
99. Johannesdottir G., Gudmundsson J., Bergthorsson J.T., et al. High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. Cancer Res 1996, 56(16):3663-3665.
100. Struewing J.P., Hartge P., Wacholder S., et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997, 336(20):1401-1408.
101. Available from: http://clinicaltrials.gov.in.
102. Tutt A., Robson M., Garber J.E., et al. Phase II trial of the oral PARP inhibitor olaparib in BRCA-deficient advanced breast cancer. J Clin Oncol 2009, 27(18):CRA501.
103. Tutt A., Robson M., Garber J.E., et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 2010, 376(9737):235-244.
104. Audeh M.W., Penson R.T., Friedlander M., et al. Phase II trial of the oral PARP inhibitor olaparib (AZD2281) in BRCA-deficient advanced ovarian cancer. J Clin Oncol 2009, 27(15):5500.
105. Audeh M.W., Carmichael J., Penson R.T., et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet 2010, 376(9737):245-251.
106. Bartsch R., Ziebermayr R., Zielinski C.C., Steger G.G. Triple-negative breast cancer. Wien Med Wochenschr 2010, 160(7-8):174-181.
107. O'Shaughnessy J., Osborne C., Pippen J., et al. Efficacy of BSI-201, a poly (ADP-ribose) polymerase-1 (PARP1) inhibitor, in combination with gemcitabine/carboplatin (G/C) in patients with metastatic triple-negative breast cancer (TNBC): results of a randomized phase II trial. J Clin Oncol 2009, 27(18):3.
108. O'Shaughnessy J., Osborne C., Pippen J.E., et al. Iniparib plus chemotherapy in metastatic triple-negative breast cancer. N Engl J Med 2011, 364(3):205-214.
109. Gelmon K.A., Hirte H., Robidoux A., Tonkin K.S., Tischkowitz M., Swenerton K., et al. Can we define tumors that will respond to PARP inhibitors? A phase II correlative study of olaparib in advanced serous ovarian cancer and triple-negative breast cancer [abstract]. J Clin Oncol 2010, 28(Suppl.):3002.
110. Nechiporchik N, Lieb KM, Polin L, Peters GJ, Chen A, Ethier SP, LoRusso PM, Burger AM. Preclinical activity of the poly (ADP-ribose) polymerase (PARP) inhibitor ABT-888 in combination with irinotecan in ovarian and triple negative breast cancers. Molecular-targeted therapies-preclinical. 22nd EORTC-NCI-AACR symposium on molecular targets and cancer therapeutics. Berlin, Germany; 2010. [Poster number 189].
111. Wenham R, Sandhu SK, Wilding G, Sun L, Toniatti C, Stroh M, Carpenter C, de-Bono J, Baird R, Schelman WR. First in human trial of a poly(ADP)-ribose polymerase (PARP) inhibitor MK-4827 in advanced cancer patients (p) with antitumor activity in BRCA-deficient and sporadic ovarian cancers. 22nd EORTC-NCI-AACR symposium on molecular targets and cancer therapeutics. Berlin, Germany; 2010.
112. Gatei M., Young D., Cerosaletti K.M., et al. ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nat Genet 2000, 25(1):115-119.
113. Baskaran R., Wood L.D., Whitaker L.L., et al. Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation. Nature 1997, 387(6632):516-519.
114. Siliciano J.D., Canman C.E., Taya Y., Sakaguchi K., Appella E., Kastan M.B. DNA damage induces phosphorylation of the amino terminus of p53. Genes Dev 1997, 11(24):3471-3481.
115. Abraham R.T. Cell cycle checkpoint signaling through the ATM and ATR kinases. Genes Dev 2001, 15(17):2177-2196.
116. Zhou B.B., Elledge S.J. The DNA damage response: putting checkpoints in perspective. Nature 2000, 408(6811):433-439.
117. McGowan C.H., Russell P. The DNA damage response: sensing and signaling. Curr Opin Cell Biol 2004, 16(6):629-633.
118. Broeks A., Braaf L.M., Huseinovic A., et al. The spectrum of ATM missense variants and their contribution to contralateral breast cancer. Breast Cancer Res Treat 2008, 107(2):243-248.
119. Milne R.L. Variants in the ATM gene and breast cancer susceptibility. Genome Med 2009, 1(1):12.
120. Athma P., Rappaport R., Swift M. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 1996, 92(2):130-134.
121. Taylor A.M., Harnden D.G., Arlett C.F., et al. Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature 1975, 258(5534):427-429.
122. Swift M., Chase C.L., Morrell D. Cancer predisposition of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet 1990, 46(1):21-27.
123. Swift M., Morrell D., Massey R.B., Chase C.L. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991, 325(26):1831-1836.
124. Thompson D., Duedal S., Kirner J., et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 2005, 97(11):813-822.
125. Easton D.F. Cancer risks in A-T heterozygotes. Int J Radiat Biol 1994, 66(6 Suppl.):S177-S182.
126. Paglia L.L., Lauge A., Weber J., et al. ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy. Breast Cancer Res Treat 2009, 119(2):443-452.
127. Geoffroy-Perez B., Janin N., Ossian K., Lauge A., Stoppa-Lyonnet D., Andrieu N. Variation in breast cancer risk of heterozygotes for ataxia-telangiectasia according to environmental factors. Int J Cancer 2002, 99(4):619-623.
128. Larson G.P., Zhang G., Ding S., et al. An allelic variant at the ATM locus is implicated in breast cancer susceptibility. Genet Test 1997, 1(3):165-170.
129. Thorstenson Y.R., Roxas A., Kroiss R., et al. Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res 2003, 63(12):3325-3333.
130. Stankovic T., Kidd A.M., Sutcliffe A., et al. ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet 1998, 62(2):334-345.
131. Bogdanova N., Cybulski C., Bermisheva M., et al. A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer. Breast Cancer Res Treat 2008, 118(1):207-211.
132. Johnson N., Fletcher O., Palles C., et al. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet 2007, 16(9):1051-1057.
133. Concannon P., Haile R.W., Borresen-Dale A.L., et al. Variants in the ATM gene associated with a reduced risk of contralateral breast cancer. Cancer Res 2008, 68(16):6486-6491.
134. Geoffroy-Perez B., Janin N., Ossian K., et al. Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer 2001, 93(2):288-293.
135. Angele S., Falconer A., Edwards S.M., et al. ATM polymorphisms as risk factors for prostate cancer development. Br J Cancer 2004, 91(4):783-787.
136. Bose S., Yap L.F., Fung M., et al. The ATM tumour suppressor gene is down-regulated in EBV-associated nasopharyngeal carcinoma. J Pathol 2009, 217(3):345-352.
137. He Y., Chen Q., Li B. ATM in oral carcinogenesis: association with clinicopathological features. J Cancer Res Clin Oncol 2008, 134(9):1013-1020.
138. Stankovic T., Weber P., Stewart G., et al. Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia. Lancet 1999, 353(9146):26-29.
139. Moeller B.J., Yordy J.S., Williams M.D., et al. DNA repair biomarker profiling of head and neck cancer: Ku80 expression predicts locoregional failure and death following radiotherapy. Clin Cancer Res 2011, 17(7):2035-2043.
140. Fang Y., Guan X., Guo Y., et al. Analysis of genetic alterations in primary nasopharyngeal carcinoma by comparative genomic hybridization. Genes Chromosomes Cancer 2001, 30(3):254-260.
141. Chen Y.J., Ko J.Y., Chen P.J., et al. Chromosomal aberrations in nasopharyngeal carcinoma analyzed by comparative genomic hybridization. Genes Chromosomes Cancer 1999, 25(2):169-175.
142. Flanagan J.M., Munoz-Alegre M., Henderson S., et al. Gene-body hypermethylation of ATM in peripheral blood DNA of bilateral breast cancer patients. Hum Mol Genet 2009, 18(7):1332-1342.
143. Ai L., Vo Q.N., Zuo C., et al. Ataxia-telangiectasia-mutated (ATM) gene in head and neck squamous cell carcinoma: promoter hypermethylation with clinical correlation in 100 cases. Cancer Epidemiol Biomarkers Prev 2004, 13(1):150-156.
144. Lee K.M., Choi J.Y., Park S.K., et al. Genetic polymorphisms of ataxia telangiectasia mutated and breast cancer risk. Cancer Epidemiol Biomarkers Prev 2005, 14(4):821-825.
145. Tamimi R.M., Hankinson S.E., Spiegelman D., Kraft P., Colditz G.A., Hunter D.J. Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case-control study. Breast Cancer Res 2004, 6(4):R416-R422.
146. Einarsdottir K., Rosenberg L.U., Humphreys K., et al. Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study. Breast Cancer Res 2006, 8(6):R67.
147. Baynes C., Healey C.S., Pooley K.A., et al. Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk. Breast Cancer Res 2007, 9(2):R27.
148. Hickson I., Yan Z., Richardson C.J., et al. Identification and characterization of a novel and specific inhibitor of the ataxia-telangiectasia mutated kinase ATM. Cancer Research 2004, 64(24):9152-9159.
149. Williamson C.T., Muzik H., Turhan A.G., et al. ATM deficiency sensitizes mantle cell lymphoma cells to poly(ADP-ribose) polymerase-1 inhibitors. Mol Cancer Ther 2010, 9(2):347-357.
150. Durocher F., Labrie Y., Soucy P., et al. Mutation analysis, characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families. BMC Cancer 2006, 6:230.
151. Heikkinen K., Mansikka V., Karppinen S.M., Rapakko K., Winqvist R. Mutation analysis of the ATR gene in breast and ovarian cancer families. Breast Cancer Res 2005, 7(4):R495-R501.
152. Kontorovich T., Cohen Y., Nir U., Friedman E. Promoter methylation patterns of ATM, ATR, BRCA1, BRCA2 and P53 as putative cancer risk modifiers in Jewish BRCA1/BRCA2 mutation carriers. Breast Cancer Res Treat 2008, 116(1):195-200.
153. Menoyo A., Alazzouzi H., Espin E., Armengol M., Yamamoto H., Schwartz S. Somatic mutations in the DNA damage-response genes ATR and CHK1 in sporadic stomach tumors with microsatellite instability. Cancer Res 2001, 61(21):7727-7730.
154. Mironov N., Jansen L.A., Zhu W.B., Aguelon A.M., Reguer G., Yamasaki H. A novel sensitive method to detect frameshift mutations in exonic repeat sequences of cancer-related genes. Carcinogenesis 1999, 20(11):2189-2192.
155. Lewis K.A., Mullany S., Thomas B., et al. Heterozygous ATR mutations in mismatch repair-deficient cancer cells have functional significance. Cancer Res 2005, 65(16):7091-7095.
156. Vassileva V., Millar A., Briollais L., Chapman W., Bapat B. Genes involved in DNA repair are mutational targets in endometrial cancers with microsatellite instability. Cancer Res 2002, 62(14):4095-4099.
157. Parsons R., Li G.M., Longley M.J., et al. Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 1993, 75(6):1227-1236.
158. Twerdi C.D., Boyer J.C., Farber R.A. Relative rates of insertion and deletion mutations in a microsatellite sequence in cultured cells. Proc Natl Acad Sci USA 1999, 96(6):2875-2879.
159. Beale G, Peassland A, Wang L, et al. Evaluation of a novel Ataxia telangiectasia mutated (ATM) and Rad3-related (ATR) inhibitor, NU6027; 2010. Available from: http://www.ncri.org.uk/ncriconference/2010abstracts.
160. Curtin NJ, Beale G, Cliby WA, et al. Chemosensitisation by NU6027, a novel inhibitor of ATR (ataxia telangiectassia mutated and Rad3 related) kinase. In: 102nd AACR meeting 2011, proceedings [abstract 5498].
161. Taylor A.M., Groom A., Byrd P.J. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair (Amst) 2004, 3(8-9):1219-1225.
162. Aaltonen L.A., Salovaara R., Kristo P., et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998, 338(21):1481-1487.
163. Hampel H., Frankel W.L., Martin E., et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005, 352(18):1851-1860.
164. Vilar E., Bartnik C.M., Stenzel S.L., et al. MRE11 deficiency increases sensitivity to poly(ADP-ribose) polymerase inhibition in microsatellite unstable colorectal cancers. Cancer Res 2011, 71(7):2632-2642.
165. Giannini G., Ristori E., Cerignoli F., et al. Human MRE11 is inactivated in mismatch repair-deficient cancers. EMBO Rep 2002, 3(3):248-254.
166. Heikkinen K., Karppinen S.M., Soini Y., Makinen M., Winqvist R. Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. J Med Genet 2003, 40(12):e131.
167. Heikkinen K., Rapakko K., Karppinen S.M., et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis 2006, 27(8):1593-1599.
168. Kim N.G., Choi Y.R., Baek M.J., et al. Frameshift mutations at coding mononucleotide repeats of the hRAD50 gene in gastrointestinal carcinomas with microsatellite instability. Cancer Res 2001, 61(1):36-38.
169. Digweed M., Sperling K. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst) 2004, 3(8-9):1207-1217.
170. Gorski B., Debniak T., Masojc B., et al. Germline 657del5 mutation in the NBS1 gene in breast cancer patients. Int J Cancer 2003, 106(3):379-381.
171. Cybulski C., Gorski B., Debniak T., et al. NBS1 is a prostate cancer susceptibility gene. Cancer Res 2004, 64(4):1215-1219.
172. Steffen J., Varon R., Mosor M., et al. Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int J Cancer 2004, 111(1):67-71.
173. Steffen J., Maneva G., Poplawska L., Varon R., Mioduszewska O., Sperling K. Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation. Int J Cancer 2006, 119(12):2970-2973.
174. Steffen J., Nowakowska D., Niwinska A., et al. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer 2006, 119(2):472-475.
175. Varon R., Reis A., Henze G., von Einsiedel H.G., Sperling K., Seeger K. Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res 2001, 61(9):3570-3572.
176. Medina P.P., Ahrendt S.A., Pollan M., Fernandez P., Sidransky D., Sanchez-Cespedes M. Screening of homologous recombination gene polymorphisms in lung cancer patients reveals an association of the NBS1-185Gln variant and p53 gene mutations. Cancer Epidemiol Biomarkers Prev 2003, 12(8):699-704.
177. Ryk C., Kumar R., Thirumaran R.K., Hou S.M. Polymorphisms in the DNA repair genes XRCC1, APEX1, XRCC3 and NBS1, and the risk for lung cancer in never- and ever-smokers. Lung cancer 2006, 54(3):285-292.
178. Cariveau M.J., Tang X., Cui X.L., Xu B. Characterization of an NBS1 C-terminal peptide that can inhibit ataxia telangiectasia mutated (ATM)-mediated DNA damage responses and enhance radiosensitivity. Mol Pharmacol 2007, 72(2):320-326.
179. Dupre A., Boyer-Chatenet L., Sattler R.M., et al. A forward chemical genetic screen reveals an inhibitor of the Mre11-Rad50-Nbs1 complex. Nat Chem Biol 2008, 4(2):119-125.
180. Knights C, Chresta C, Riches L, et al. preclinical evaluation of PARP inhibitor olaparib in homologous recombination deficient (HRD) MRE11 mutant microsatellite instable (MSI) colorectal cancer [abstract]. In: 20th Annual AACR-NCI-EORTC International conference: molecular targets and cancer therapeutics. Boston, MA; 2009 [abstract A114].
181. Thacker J. The RAD51 gene family, genetic instability and cancer. Cancer Lett 2005, 219(2):125-135.
182. Raderschall E., Stout K., Freier S., Suckow V., Schweiger S., Haaf T. Elevated levels of Rad51 recombination protein in tumor cells. Cancer Res 2002, 62(1):219-225.
183. Connell P.P., Jayathilaka K., Haraf D.J., Weichselbaum R.R., Vokes E.E., Lingen M.W. Pilot study examining tumor expression of RAD51 and clinical outcomes in human head cancers. Int J Oncol 2006, 28(5):1113-1119.
184. Qiao G.B., Wu Y.L., Yang X.N., et al. High-level expression of Rad51 is an independent prognostic marker of survival in non-small-cell lung cancer patients. Br J Cancer 2005, 93(1):137-143.
185. Hannay J.A., Liu J., Zhu Q.S., et al. Rad51 overexpression contributes to chemoresistance in human soft tissue sarcoma cells: a role for p53/activator protein 2 transcriptional regulation. Mol Cancer Ther 2007, 6(5):1650-1660.
186. Mitra A., Jameson C., Barbachano Y., et al. Overexpression of RAD51 occurs in aggressive prostatic cancer. Histopathology 2009, 55(6):696-704.
187. Maacke H., Hundertmark C., Miska S., Voss M., Kalthoff H., Sturzbecher H.W. Autoantibodies in sera of pancreatic cancer patients identify recombination factor Rad51 as a tumour-associated antigen. J Cancer Res Clin Oncol 2002, 128(4):219-222.
188. Willers H., Taghian A.G., Luo C.M., Treszezamsky A., Sgroi D.C., Powell S.N. Utility of DNA repair protein foci for the detection of putative BRCA1 pathway defects in breast cancer biopsies. Mol Cancer Res 2009, 7(8):1304-1309.
189. Graeser M., McCarthy A., Lord C.J., et al. A marker of homologous recombination predicts pathologic complete response to neoadjuvant chemotherapy in primary breast cancer. Clin Cancer Res 2010, 16(24):6159-6168.
190. Barlund M., Monni O., Kononen J., et al. Multiple genes at 17q23 undergo amplification and overexpression in breast cancer. Cancer Res 2000, 60(19):5340-5344.
191. Wu G.J., Sinclair C.S., Paape J., et al. 17q23 amplifications in breast cancer involve the PAT1, RAD51C, PS6K, and SIGma1B genes. Cancer Res 2000, 60(19):5371-5375.
192. Yoshikawa K., Ogawa T., Baer R., et al. Abnormal expression of BRCA1 and BRCA1-interactive DNA-repair proteins in breast carcinomas. Int J Cancer 2000, 88(1):28-36.
193. Munshi N.C., Hideshima T., Carrasco D., et al. Identification of genes modulated in multiple myeloma using genetically identical twin samples. Blood 2004, 103(5):1799-1806.
194. Levy-Lahad E., Lahad A., Eisenberg S., et al. A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers. Proc Natl Acad Sci USA 2001, 98(6):3232-3236.
195. Kadouri L., Kote-Jarai Z., Hubert A., et al. A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers. Br J Cancer 2004, 90(10):2002-2005.
196. Seedhouse C., Faulkner R., Ashraf N., Das-Gupta E., Russell N. Polymorphisms in genes involved in homologous recombination repair interact to increase the risk of developing acute myeloid leukemia. Clin Cancer Res 2004, 10(8):2675-2680.
197. Jawad M., Seedhouse C.H., Russell N., Plumb M. Polymorphisms in human homeobox HLX1 and DNA repair RAD51 genes increase the risk of therapy-related acute myeloid leukemia. Blood 2006, 108(12):3916-3918.
198. Liu N., Lamerdin J.E., Tebbs R.S., et al. XRCC2 and XRCC3, new human Rad51-family members, promote chromosome stability and protect against DNA cross-links and other damages. Mol Cell 1998, 1(6):783-793.
199. Kuschel B., Auranen A., McBride S., et al. Variants in DNA double-strand break repair genes and breast cancer susceptibility. Hum Mol Genet 2002, 11(12):1399-1407.
200. Garcia-Closas M., Egan K.M., Newcomb P.A., et al. Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses. Hum Genet 2006, 119(4):376-388.
201. Rafii S., O'Regan P., Xinarianos G., et al. A potential role for the XRCC2 R188H polymorphic site in DNA-damage repair and breast cancer. Hum Mol Genet 2002, 11(12):1433-1438.
202. Auranen A., Song H., Waterfall C., et al. Polymorphisms in DNA repair genes and epithelial ovarian cancer risk. Int J Cancer 2005, 117(4):611-618.
203. Winsey S.L., Haldar N.A., Marsh H.P., et al. A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. Cancer Res 2000, 60(20):5612-5616.
204. Sturgis E.M., Zhao C., Zheng R., Wei Q. Radiation response genotype and risk of differentiated thyroid cancer: a case-control analysis. Laryngoscope 2005, 115(6):938-945.
205. Matullo G., Guarrera S., Carturan S., et al. DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study. Int J Cancer 2001, 92(4):562-567.
206. Zienolddiny S., Campa D., Lind H., et al. Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. Carcinogenesis 2006, 27(3):560-567.
207. Asakawa H., Koizumi H., Koike A., et al. Prediction of breast cancer sensitivity to neoadjuvant chemotherapy based on status of DNA damage repair proteins. Breast Cancer Res 2010, 12(2):R17.
208. Mukhopadhyay A., Elattar A., Cerbinskaite A., et al. Development of a functional assay for homologous recombination status in primary cultures of epithelial ovarian tumor and correlation with sensitivity to poly(ADP-ribose) polymerase inhibitors. Clin Cancer Res 2010, 16(8):2344-2351.
209. Ohnishi T., Taki T., Hiraga S., Arita N., Morita T. In vitro and in vivo potentiation of radiosensitivity of malignant gliomas by antisense inhibition of the RAD51 gene. Biochem Biophys Res Commun 1998, 245(2):319-324.
210. Collis S.J., Tighe A., Scott S.D., Roberts S.A., Hendry J.H., Margison G.P. Ribozyme minigene-mediated RAD51 down-regulation increases radiosensitivity of human prostate cancer cells. Nucleic Acids Res 2001, 29(7):1534-1538.
211. Ito M., Yamamoto S., Nimura K., Hiraoka K., Tamai K., Kaneda Y. Rad51 siRNA delivered by HVJ envelope vector enhances the anti-cancer effect of cisplatin. J Gene Med 2005, 7(8):1044-1052.
212. Alter B.P. Fanconi's anemia and malignancies. Am J Hematol 1996, 53(2):99-110.
213. Kennedy R.D., D'Andrea A.D. The Fanconi Anemia/BRCA pathway: new faces in the crowd. Genes Dev 2005, 19(24):2925-2940.
214. Kutler D.I., Singh B., Satagopan J., et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 2003, 101(4):1249-1256.
215. Howlett N.G., Taniguchi T., Olson S., et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002, 297(5581):606-609.
216. Moldovan G.L., D'Andrea A.D. How the fanconi anemia pathway guards the genome. Annu Rev Genet 2009, 43:223-249.
217. Thompson L.H. Unraveling the Fanconi anemia-DNA repair connection. Nat Genet 2005, 37(9):921-922.
218. Hinz J.M., Nham P.B., Salazar E.P., Thompson L.H. The Fanconi anemia pathway limits the severity of mutagenesis. DNA Repair (Amst) 2006, 5(8):875-884.
219. 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 2002, 100(7):2414-2420.
220. Auerbach A.D., Allen R.G. Leukemia and preleukemia in Fanconi anemia patients. A review of the literature and report of the International Fanconi Anemia Registry. Cancer Genet Cytogenet 1991, 51(1):1-12.
221. Alter B.P. Cancer in Fanconi anemia, 1927-2001. Cancer 2003, 97(2):425-440.
222. Offit K., Levran O., Mullaney B., et al. Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst 2003, 95(20):1548-1551.
223. Hirsch B., Shimamura A., Moreau L., et al. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood 2004, 103(7):2554-2559.
224. Condie A., Powles R.L., Hudson C.D., et al. Analysis of the Fanconi anaemia complementation group A gene in acute myeloid leukaemia. Leuk Lymphoma 2002, 43(9):1849-1853.
225. Tischkowitz M.D., Morgan N.V., Grimwade D., et al. Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia. Leukemia 2004, 18(3):420-425.
226. Seal S., Thompson D., Renwick A., et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006, 38(11):1239-1241.
227. Couch F.J., Johnson M.R., Rabe K., et al. Germ line Fanconi anemia complementation group C mutations and pancreatic cancer. Cancer Res 2005, 65(2):383-386.
228. van der Heijden M.S., Brody J.R., Gallmeier E., et al. Functional defects in the fanconi anemia pathway in pancreatic cancer cells. Am J Pathol 2004, 165(2):651-657.
229. Xie Y., de Winter J.P., Waisfisz Q., et al. Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells. Br J Haematol 2000, 111(4):1057-1064.
230. Olopade O.I., Wei M. FANCF methylation contributes to chemoselectivity in ovarian cancer. Cancer Cell 2003, 3(5):417-420.
231. Dhillon V.S., Shahid M., Husain S.A. CpG methylation of the FHIT, FANCF, cyclin-D2, BRCA2 and RUNX3 genes in Granulosa cell tumors (GCTs) of ovarian origin. Mol Cancer 2004, 3:33.
232. Taniguchi T., Tischkowitz M., Ameziane N., et al. Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Nat Med 2003, 9(5):568-574.
233. Narayan G., Arias-Pulido H., Nandula S.V., et al. Promoter hypermethylation of FANCF: disruption of Fanconi Anemia-BRCA pathway in cervical cancer. Cancer Res 2004, 64(9):2994-2997.
234. Kennedy R.D., Chen C.C., Stuckert P., et al. Fanconi anemia pathway-deficient tumor cells are hypersensitive to inhibition of ataxia telangiectasia mutated. J Clin Invest 2007, 117(5):1440-1449.
235. Jazaeri A.A., Yee C.J., Sotiriou C., Brantley K.R., Boyd J., Liu E.T. Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers. J Natl Cancer Inst 2002, 94(13):990-1000.
236. Konstantinopoulos P.A., Spentzos D., Karlan B.Y., et al. Gene expression profile of BRCAness that correlates with responsiveness to chemotherapy and with outcome in patients with epithelial ovarian cancer. J Clin Oncol 2010, 28(22):3555-3561.
237. Alexander B.M., Sprott K., Farrow D.A., et al. DNA repair protein biomarkers associated with time to recurrence in triple-negative breast cancer. Clin Cancer Res 2010, 16(23):5796-5804.
238. Ahluwalia A., Hurteau J.A., Bigsby R.M., Nephew K.P. DNA methylation in ovarian cancer. II. Expression of DNA methyltransferases in ovarian cancer cell lines and normal ovarian epithelial cells. Gynecol Oncol 2001, 82(2):299-304.
239. Gaymes T.J., Shall S., MacPherson L.J., et al. Inhibitors of poly ADP-ribose polymerase (PARP) induce apoptosis of myeloid leukemic cells: potential for therapy of myeloid leukemia and myelodysplastic syndromes. Haematologica 2009, 94(5):638-646.
240. Ohashi A., Zdzienicka M.Z., Chen J.J., Couch F.J. Fanconi anemia complementation group D2 (FANCD2) functions independently of BRCA2- and RAD51-associated homologous recombination in response to DNA damage. J Biol Chem 2005, 280(15):14877-14883.
241. Gottipati P., Vischioni B., Schultz N., et al. Poly(ADP-ribose) polymerase is hyperactivated in homologous recombination-defective cells. Cancer Res 2010, 70(13):5389-5398.
242. Wang H.Y., Wang M.L., Wang H.C., Bocker W., Iliakis G. Complex H2AX phosphorylation patterns by multiple kinases including ATM and DNA-PK in human cells exposed to ionizing radiation and treated with kinase inhibitors. J Cell Physiol 2005, 202(2):492-502.
243. de Bono J.S., Yap T.A., Sandhu S.K., Carden C.P. Poly(ADP-ribose) polymerase (PARP) inhibitors: exploiting a synthetic lethal strategy in the clinic. CA: Cancer J Clin 2011, 61(1):31-49.
244. Koyanagi K., Mori T., O'Day S.J., Martinez S.R., Wang H.J., Hoon D.S.B. Association of circulating tumor cells with serum tumor-related methylated DNA in peripheral blood of melanoma patients. Cancer Res 2006, 66(12):6111-6117.
245. Yap T.A., Sandhu S.K., Workman P., de Bono J.S. Envisioning the future of early anticancer drug development. Nat Rev Cancer 2010, 10(7):514-523.
246. Bryant H.E., Helleday T. Inhibition of poly (ADP-ribose) polymerase activates ATM which is required for subsequent homologous recombination repair. Nucleic Acids Res 2006, 34(6):1685-1691.
247. Gaymes T.J., Shall S., Farzaneh F., Mufti G.J. Chromosomal instability syndromes are sensitive to poly ADP-ribose polymerase inhibitors. Haematologica 2008, 93(12):1886-1889.
248. Mukhopadhyay A., Elattar A., Cerbinskaite A., et al. Development of a functional assay for homologous recombination status in primary cultures of epithelial ovarian tumor and correlation with sensitivity to poly(ADP-ribose) polymerase inhibitors. Clin Cancer Res 2010, 16(8):2344-2351.