NBN gene polymorphisms and cancer susceptibility: A systemic review

Current Genomics

Volumn 14, Issue 7, 2013, Pages 425-440

  Berardinelli, Francesco ^a   di Masi, Alessandra ^a   Antoccia, Antonio ^a  

^a ROMA TRE UNIVERSITY   (Italy)

Author keywords

Cancer; DNA repair; DSBs; E185Q; NBN; Polymorphisms; SNPs

Indexed keywords

NIBRIN;

ACUTE LYMPHOBLASTIC LEUKEMIA; ALLELE; BASAL CELL CARCINOMA; BLADDER CANCER; BREAST CANCER; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; DNA POLYMORPHISM; DNA REPAIR; ENVIRONMENTAL FACTOR; EXON; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEAD AND NECK TUMOR; HUMAN; INTRON; KIDNEY CARCINOMA; LIVER CELL CARCINOMA; LUNG CANCER; LYMPHOMA; MEDULLOBLASTOMA; MELANOMA SKIN CANCER; META ANALYSIS (TOPIC); OVARY CANCER; PROSTATE CANCER; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW; THYROID CANCER;

EID: 84889032265     PISSN: 13892029     EISSN: 18755488     Source Type: Journal    
DOI: 10.2174/13892029113146660012     Document Type: Review

References (205)

1. rd; Hays, L.; Morgan, W. F.; Petrini, J. H. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell, 1998, 93, 477-486. dx. doi. org/10. 1016/S0092-8674(00)81175-7.
2. Varon, R.; Vissinga, C.; Platzer, M.; Cerosaletti, K. M.; Chrzanowska, K. H.; Saar, K.; Beckmann, G.; Seemanová, E.; Cooper, P. R.; Nowak, N. J.; Stumm, M.; Weemaes, C. M.; Gatti, R. A.; Wilson, R. K.; Digweed, M.; Rosenthal, A.; Sperling, K.; Concannon, P.; Reis, A. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell, 1998, 93, 467-476./dx. doi. org/10. 1016/S0092-8674(00)81174-5.
3. Gatei, M.; Scott, S. P.; Filippovitch, I.; Soronika, N.; Lavin, M. F.; Weber, B.; Khanna, K. K. Role for ATM in DNA damage-induced phosphorylation of BRCA1. Cancer Res., 2000, 60, 3299-3304. PMID: 10866324.
4. Lim, D. S.; Kim, S. T.; Xu, B., Maser, R. S.; Lin, J.; Petrini, J. H.; Kastan, M. B. ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature, 2000, 404, 613-617. doi: 10. 1038/35007091.
5. Wu, X.; Ranganathan, V.; Weisman, D. S.; Heine, W. F.; Ciccone, D. N.; O'Neill, T. B.; Crick, K. E.; Pierce, K. A.; Lane, W. S.; Rathbun, G.; Livingston, D. M.; Weaver, D. T. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature, 2000, 405, 477-482. doi: 10. 1038/35013089.
6. Zhao, S.; Weng, Y. C.; Yuan, S. S.; Lin, Y. T.; Hsu, H. C.; Lin, S. C.; Gerbino, E.; Song, M. H.; Zdzienicka, M. Z.; Gatti, R. A.; Shay, J. W.; Ziv, Y.; Shiloh, Y.; Lee, E. Y. Functional link between ataxiatelangiectasia and Nijmegen breakage syndrome gene products. Nature, 2000, 405, 473-477.
7. Falck, J.; Coates, J.; Jackson, S. P. Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage. Nature, 2005, 434, 605-611. dx. doi. org/10. 1038/nature03442.
8. 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, 5363-5379. 10. 1128/MCB. 25. 13. 5363-5379. 2005.
9. Becker, E.; Meyer, V.; Madaoui, H.; Guerois, R. Detection of a tandem BRCT in Nbs1 and Xrs2 with functional implications in the DNA damage response. Bioinformatics, 2006, 22, 1289-1292. dx. doi. org/10. 1093/bioinformatics/btl075.
10. Williams, R. S.; Dodson, G. E.; Limbo, O.; Yamada, Y.; Williams, J. S.; Guenther, G.; Classen, S.; Glover, J. N.; Iwasaki, H.; Russell, P.; Tainer, J. A. Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA double-strand break processing and repair. Cell, 2009, 139, 87-99./dx. doi. org/10. 1093/bioinformatics/btl075.
11. Schiller, C. B.; Lammens, K.; Guerini, I.; Coordes, B.; Feldmann, H.; Schlauderer, F.; Möckel, C.; Schele, A.; Strässer, K.; Jackson, S. P.; Hopfner, K. P. Structure of Mre11-Nbs1complex yields insights into ataxia-telangiectasia-like disease mutations and DNA damage signaling. Nat. Struct. Mol. Biol., 2012, 19, 693-700. dx. doi. org/10. 1038/nsmb. 2323.
12. 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.//dx. doi. org/10. 1038/nrm805.
13. Digweed, M.; Sperling, K. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst), 2004, 3, 1207-1217./dx. doi. org/10. 1016/j. dnarep. 2004. 03. 004.
14. Kobayashi, J.; Antoccia, A.; Tauchi, H.; Matsuura, S.; Komatsu, K. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst), 2004, 3, 855-861. dx. doi. org/10. 1016/j. dnarep. 2004. 03. 023.
15. Iijima, K.; Ohara, M.; Seki, R.; Tauchi, H. Dancing on damaged chromatin: functions of ATM and the RAD50/MRE11/NBS1 complex in cellular responses to DNA damage. J. Radiat. Res. (Tokyo), 2008, 49, 451-464. dx. doi. org/10. 1269/jrr. 08065.
16. Gullotta, F.; De Marinis, E.; Ascenzi, P.; di Masi, A. Targeting the DNA double strand breaks repair for cancer therapy. Curr. Med. Chem., 2010, 17, 2017-2048. dx. doi. org/10. 2174/09298671079 1233698.
17. Rupnik, A.; Lowndes, N. F.; Grenon, M. MRN and the race to the break. Chromosoma, 2010, 119, 115-135/dx. doi. org/10. 1007/s00412-009-0242-4.
18. Wen, J.; Cerosaletti, K.; Schultz, K. J.; Wright, J. A.; Concannon, P. NBN Phosphorylation regulates the accumulation of MRN and ATM at sites of DNA double-strand breaks. Oncogene, 2012, Nov 12. doi: 10. 1038/onc. 2012. 443.
19. Shin, D. S.; Chahwan, C.; Huffman, J. L.; Tainer, J. A. Structure and function of the double-strand break repair machinery. DNA Repair (Amst), 2004, 3, 863-873. dx. doi. org/10. 1016/j. dnarep. 2004. 03. 022.
20. Jeggo, P. A.; Lobrich, M. DNA double-strand breaks: their cellular and clinical impact? Oncogene, 2007, 26, 7717-7719. dx. doi. org/10. 1038/sj. onc. 1210868.
21. Mahaney, B. L.; Meek, K.; Lees-Miller, S. P. Repair of ionizing radiation-induced DNA double-strand breaks by non-homologous end-joining. Biochem. J., 2009, 417, 639-650. dx. doi. org/10. 1042/BJ20080413.
22. Seemanová, E.; Jarolim, P.; Seeman, P., Varon, R.; Digweed, M.; Swift, M.; Sperling, K. Cancer risk of heterozygotes with the NBN founder mutation. J. Natl. Cancer Inst., 2007, 99, 1875-1880. dx. doi. org/10. 1093/jnci/djm251.
23. di Masi, A.; Antoccia, A. NBS1 Heterozygosity and cancer risk. Curr. Genomics, 2008, 9, 275-281. dx. doi. org/10. 2174/13892020 8784533610.
24. Dzikiewicz-Krawczyk, A. The importance of making ends meet: mutations in genes and altered expression of proteins of the MRN complex and cancer. Mutat Res., 2008, 659, 262-273.//dx. doi. org/10. 1016/j. mrrev. 2008. 05. 005.
25. Weemaes, C. M.; Hustinx, T. W.; Scheres, J. M.; van Munster, P. J.; Bakkeren, J. A.; Taalman, R. D. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr. Scand., 1981, 70, 557-564./dx. doi. org/10. 1111/j. 1651-2227. 1981. tb05740. x.
26. The International Nijmegen Breakage Syndrome Study Group, Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. Arch. Dis. Child, 2000, 82, 400-406. dx. doi. org/10. 1136/adc. 82. 5. 400.
27. Chrzanowska, K. H.; Gregorek, H.; Dembowska-Bagińska, B.; Kalina, M. A.; Digweed, M. Nijmegen breakage syndrome (NBS). Orphanet J. Rare Dis., 2012, 7, 13. dx. doi. org/10. 1186/1750-1172-7-13.
28. Cerosaletti, K. M.; Morrison, V. A.; Sabath, D. E.; Willerford, D. M.; Concannon, P. Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma. Genes Chromosomes Cancer, 2002, 35, 282-286./dx. doi. org/10. 1002/gcc. 10114.
29. Resnick, I. B.; Kondratenko, I.; Pashanov, E.; Maschan, A. A.; Karachunsky, A.; Togoev, O.; Timakov, A.; Polyakov, A.; Tverskaya, S.; Evgrafov, O.; Roumiantsev, A. G. 657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls. Am. J. Med. Genet. A., 2003, 120, 174-179./dx. doi. org/10. 1002/gcc. 10114.
30. Steffen, J.; Varon, R.; Mosor, M.; Maneva, G.; Maurer, M.; Stumm, M.; Nowakowska, D.; Rubach, M.; Kosakowska, E.; Ruka, W.; Nowecki, Z.; Rutkowski, P.; Demkow, T. Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int. J. Cancer, 2004, 111, 67-71. dx. doi. org/10. 1002/ijc. 20239.
31. Chrzanowska KH, Piekutowska-Abramczuk D, Popowska E, Gładkowska-Dura, M.; Małdyk, J.; Syczewska, M.; Krajewska-Walasek, M.; Goryluk-Kozakiewicz, B.; Bubała, H.; Gadomski, A.; Gaworczyk, A.; Kazanowska, B.; Kołtan, A.; Kuźmicz, M.; Luszawska-Kutrzeba, T.; Maciejka-Kapuścińska, L.; Stolarska, M.; Stefańska, K.; Sznurkowska, K.; Wakulińska, A.; Wieczorek, M.; Szczepański, T.; Kowalczyk, J. Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies. Int. J. Cancer, 2006, 118, 1269-1274./dx. doi. org/10. 1002/ijc. 21439.
32. 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, 2970-2973./dx. doi. org/10. 1002/ijc. 22280.
33. Chrzanowska, K.; Stumm, M.; Bialecka, M.; Saar, K.; Bernatowska-Matuszkiewicz, E.; Michalkiewicz, J.; Barszcz, S.; Reis, A.; Wegner, R. D. Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient. Clin Genet., 1997, 51, 309-313. DOI: 10. 1111/j. 1399-0004. 1997. tb02479. x.
34. Bakhshi, S.; Cerosaletti, K. M.; Concannon, P.; Bawle, E. V.; Fontanesi, J.; Gatti, R. A.; Bhambhani, K. Medulloblastoma with adverse dx. doi. org/10. 1097/00043426-200303000-00013.
35. Distel, L.; Neubauer, S.; Varon, R.; Holter, W.; Grabenbauer, G. Fatal toxicity following radio-and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome. Med. Pediatr. Oncol., 2003, 41, 44-48.
36. Meyer, S.; Kingston, H.; Taylor, A. M., Byrd, P. J.; Last, J. I.; Brennan, B. M.; Trueman, S.; Kelsey, A.; Taylor, G. M.; Eden, O. B. Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site. Cancer Genet. Cytogenet., 2004, 154, 169-174./dx. doi. org/10. 1016/j. cancergencyto. 2004. 02. 022.
37. Meyer, P.; Stepelmann, H.; Frank, B.; Varon, R.; Burwinkel, B.; Schmitt, C.; Boettger, M. B.; Klaes, R.; Sperling, K.; Hemminki, K.; Kammerer, S. Molecular genetic analysis of NBS1 in German Melanoma patients. Melanoma Res., 2007, 17, 109-116. dx. doi. org/10. 1097/CMR. 0b013e3280dec638.
38. Buslov, K. G.; Iyevleva, A. G.; Chekmariova, E. V.; Suspitsin, E. N.; Togo, A. V.; Kuligina, E. Sh.; Sokolenko, A. P.; Matsko, D. E.; Turkevich, E. A.; Lazareva, Y. R.; Chagunava, O. L.; Bit-Sava, E. M.; Semiglazov, V. F.; Devilee, P.; Cornelisse, C.; Hanson, K. P.; Imyanitov, E. N. NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia. Int. J. Cancer, 2005, 114, 585-589./dx. doi. org/10. 1002/ijc. 20765.
39. Górski, B.; Cybulski, C.; Huzarski, T.; Byrski, T.; Gronwald, J.; Jakubowska, A.; Stawicka, M.; Gozdecka-Grodecka, S.; Szwiec, M.; Urbański, K.; Mituś, J.; Marczyk, E.; Dziuba, J.; Wandzel, P.; Surdyka, D.; Haus, O.; Janiszewska, H.; Debniak, T.; Tołoczko-Grabarek, A.; Medrek, K.; Masojć, B.; Mierzejewski, M.; Kowalska, E.; Narod, S. A.; Lubiński, J. Breast cancer predisposing alleles in Poland. Breast Cancer Res. Treat., 2005, 92, 19-24.//dx. doi. org/10. 1002/ijc. 20765.
40. Bogdanova, N.; Feshcenko, S.; Schürmann, P.; Waltes, R.; Wieland, B.; Hillemanns, P.; Rogov, Y. I.; Dammann, O.; Bremer, M.; Karstens, J. H.; Sohn, C.; Varon, R.; Dörk, T. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int. J. Cancer, 2008, 122, 802-806//dx. doi. org/10. 1002/ijc. 23168.
41. Roznowski, K.; Januszkiewicz-Lewandowska, D.; Mosor, M.; Pernak, M.; Litwiniuk, M.; Nowak, J. I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer. Breast Cancer Res. Treat., 2008, 110, 343-348./dx. doi. org/10. 1007/s10549-007-9734-1.
42. Cybulski, C.; Górski, B.; Debniak, T.; J akubowska, A.; Górski, B.; Gronwald, J.; Huzarski, T.; Kashyap, A.; Byrski, T.; De{ogonek}bniak, T.; Gołćb, A.; Gliniewicz, B.; Sikorski, A.; Switała, J.; Borkowski, T.; Borkowski, A.; Antczak, A.; Wojnar, L.; Przybyła, J.; Sosnowski, M.; Małkiewicz, B.; Zdrojowy, R.; Sikorska-Radek, P.; Matych, J.; Wilkosz, J.; Róśae{ogonek}ski, W.; Kiń, J.; Bar, K.; Bryniarski, P.; Paradysz, A.; Jersak, K.; Niemirowicz, J.; Słupski, P.; Jarzemski, P.; Skrzypczyk, M.; Dobruch, J.; Domagała, P.; Narod, S. A.; Lubie{ogonek}ski, J.; Polish Hereditary Prostate Cancer Consortium. NBS1 is a prostate cancer susceptibility gene. Cancer Res., 2004, 64, 1215-1219. dx. doi. org/10. 1158/0008-5472. CAN-03-2502.
43. Suspitsin, E. N.; Sherina, N. Y.; Ponomariova, D. N.; Sokolenko, A. P.; Iyevleva, A. G.; Gorodnova, T. V.; Zaitseva, O. A.; Yatsuk, O. S.; Togo, A. V.; Tkachenko, N. N.; Shiyanov, G. A.; Lobeiko, O. S.; Krylova, N. Y.; Matsko, D. E.; Maximov, S. Y.; Urmancheyeva, A. F.; Porhanova, N. V.; Imyanitov, E. N. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hered. Cancer Clin. Pract., 2009, 7, 5. dx. doi. org/10. 1186/1897-4287-7-5.
44. Moreno-Pérez, D.; García Martín, F. J.; Vázquez López, R.; Pérez Ruiz, E.; Gonález-Valentín, M. E.; Weil Lara, B.;, Jurado Ortiz, A. Nijmegen breakage syndrome associated with pulmonary lymphoma. An. Esp. Pediatr., 2002, 57, 574-577. PMID: 12466083.
45. Pardini, B.; Naccarati, A.; Polakova, V.; Smerhovsky, Z.; Hlavata, I.; Soucek, P.; Novotny, J.; Vodickova, L.; Tomanova, V.; Landi, S.; Vodicka, P. NBN 657del5 heterozygous mutations and colorectal cancer risk in the Czech Republic. Mutat. Res., 2009, 666, 64-67. dx. doi. org/10. 1016/j. mrfmmm. 2009. 04. 004.
46. Maraschio, P.; Peretti, D.; Lambiase, S.; Lo, C. F.; Caufin, D.; Gargantini, L.; Minoli, L.; Zuffardi, O. A new chromosome instability disorder. Clin. Genet., 1986, 30, 353-365. dx. doi. org/10. 1111/j. 1399-0004. 1986. tb01892. x.
47. Tupler, R.; Marseglia, G. L.; Stefanini, M.; Prosperi, E.; Chessa, L.; Nardo, T.; Marchi, A.; Maraschio, P. A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. J. Med. Genet., 1997, 34, 196-202. dx. doi. org/10. 1136/jmg. 34. 3. 196.
48. Maraschio, P.; Danesino, C.; Antoccia, A.; Ricordy, R.; Tanzarella, C.; Varon, R.; Reis, A.; Besana, D.; Guala, A.; Tiepolo, L. A novel mutation and novel features in Nijmegen breakage syndrome. J. Med. Genet., 2001, 38, 113-117./dx. doi. org/10. 1136/jmg. 38. 2. 113.
49. Maraschio, P.; Danesino, C.; Varon, R.; Tiepolo, L. Corpus Callosum Hypoplasia and associated brain anomalies in Njmegen Breakage Syndrome. J. Med. Genet., 2002, 39, E25. dx. doi. org/10. 1136/jmg. 39. 5. e25.
50. Nakanishi, K.; Taniguchi, T.; Ranganathan, V.; New, H. V.; Moreau, L. A.; Stotsky, M.; Mathew, C. G.; Kastan, M. B.; Weaver, D. T.; D'Andrea, A. D. Interaction of FANCD2 and NBS1 in the DNA damage response. Nat. Cell Biol., 2002, 4, 913-920./dx. doi. org/10. 1038/ncb879.
51. Resnick, I. B.; Kondratenko, I.; Togoev, O.; Vasserman, N.; Shagina, I.; Evgrafov, O.; Tverskaya, S.; Cerosaletti, K. M.; Gatti, R. A.; Concannon, P. Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. J. Pediatr., 2002, 140, 355-361. dx. doi. org/10. 1067/mpd. 2002. 122724.
52. Gennery, A. R.; Slatter, M. A.; Bhattacharya, A.; Barge, D.; Haigh, S.; O'Driscoll, M.; Coleman, R.; Abinun, M.; Flood, T. J.; Cant, A. J.; Jeggo, P. A. dx. doi. org/10. 1016/j. clim. 2004. 03. 024.
53. New, H. V.; Cale, C. M.; Tischkowitz, M.; Jones, A.; Telfer, P.; Veys, P.; D'Andrea, A.; Mathew, C. G.; Hann, I. Nijmegen breakage syndrome diagnosed as Fanconi anaemia. Pediatr. Blood Cancer, 2005, 44, 494-499. dx. doi. org/10. 1002/pbc. 20271.
54. 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, 3570-3572. dx. doi. org/10. 1016/S0165-4608(01) 00409-5.
55. Taylor, G. M.; O'Brien, H. P.; Greaves, M. F.; Ravetto, P. F.; Eden, O. B. Correspondence re: Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukaemia. Cancer Res., 2003, 63, 6563-6564. PMID: 14559852.
56. Shimada, H.; Shimizu, K.; Mimaki, S.; Sakiyama, T.; Mori, T.; Shimasaki, N.; Yokota, J.; Nakachi, K.; Ohta, T.; Ohki, M. First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. Hum. Genet., 2004, 115, 372-376. dx. doi. org/10. 1007/s00439-004-1155-1.
57. Hebbring, S. J.; Fredriksson, H.; White, K. A.; Maier, C.; Ewing, C.; McDonnell, S. K.; Jacobsen, S. J.; Cerhan, J.; Schaid, D. J.; Ikonen, T.; Autio, V.; Tammela, T. L.; Herkommer, K.; Paiss, T.; Vogel, W.; Gielzak, M.; Sauvageot, J.; Schleutker, J.; Cooney, K. A.; Isaacs, W.; Thibodeau, S. N. Role of the Nijmegen Breakage Syndrome 1 gene in familial and sporadic prostate cancer. Cancer Epidemiol. Biomarkers Prev., 2006, 15, 935-938. dx. doi. org/10. 1158/1055-9965. EPI-05-0910.
58. Ziółkowska, I.; Mosor, M.; Wierzbika, M.; Rydzanicz, M.; Pernak-Schwarz, M.; Nowak, J. Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene. Cancer Sci., 2007, 98, 1701-1705. dx. doi. org/10. 1111/j. 1349-7006. 2007. 00594. x.
59. Bogdanova, N.; Schürmann, P.; Waltes, R.; Feshchenko, S.; Zalutsky, I. V.; Bremer, M.; Dörk, T. NBS1 variant I171V and breast cancer risk. Breast Cancer Res. Treat., 2008, 112, 75-79. dx. doi. org/10. 1007/s10549-007-9820-4.
60. Nowak, J.; Mosor, M.; Ziòłkowska, I.; Wierzbicka, M.; Pernak-Schwarz, M.; Przyborska, M.; Roznowski, K.; Pławski, A.; Słomski, R.; Januszkiewicz, D. Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours. Eur. J. Cancer, 2008, 44, 627-630./dx. doi. org/10. 1016/j. ejca. 2008. 01. 006.
61. Ciara, E.; Piekutowska-Abramczuk, D.; Popowska, E.; Grajkowska, W.; Barszcz, S.; Perek, D.; Dembowska-Bagie{ogonek}ska, B.; Perek-Polnik, M.; Kowalewska, E.; Czaje{ogonek}ska, A.; Syczewska, M.; Czornak, K.; Krajewska-Walasek, M.; Roszkowski, M.; Chrzanowska, K. H. Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients. Acta Neuropathol., 2010, 119, 325-334. dx. doi. org/10. 1007/s00401-009-0608-y.
62. Piekutowska-Abramczuk, D.; Ciara, E.; Popowska, E.; Grajkowska, W.; Dembowska-Bagie{ogonek}ska, B.; Kowalewska, E.; Czaje{ogonek}ska, A.; Perek-Polnik, M.; Roszkowski, M.; Syczewska, M.; Krajewska-Walasek, M.; Perek, D.; Chrzanowska, K. H. The frequency of NBN molecular variants in pediatric astrocytic tumors. J. Neurooncol., 2010, 96, 161-168 dx. doi. org/10. 1007/s11060-009-9958-5.
63. Maser, R. S.; Zinkel, R.; Petrini, J. H. An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat. Genet., 2001, 27, 417-421. PMID: 11279524.
64. Yang, L.; Li, Y.; Cheng, M.; Huang, D.; Zheng, J.; Liu, B.; Ling, X.; Li, Q.; Zhang, X.; Ji, W.; Zhou, Y.; Lu, J. A functional polymorphism at microRNA-629-binding site in the 3'-untranslated region of NBS1 gene confers an increased risk of lung cancer in Southern and Eastern Chinese population. Carcinogenesis, 2012, 33, 338-347. PMID: 22114071.
65. Jiang, L.; Liang, J.; Jiang, M.; Yu, X.; Zheng, J.; Liu, H.; Wu, D.; Zhou, Y. Functional polymorphisms in the NBS1 gene and acute lymphoblastic leukemia susceptibility in a Chinese population. Eur. J. Haematol., 2011, 86, 199-205. dx. doi. org/10. 1111/j. 1600-0609. 2010. 01562. x.
66. Bowden, G. T. Prevention of non-melanoma skin cancer by targeting ultraviolet-B-light signalling. Nat. Rev. Cancer, 2004, 4, 23-35.//dx. doi. org/10. 1038/nrc1253.
67. Tsai, K. Y.; Tsao, H. The genetics of skin cancer. Am. J. Med. Genet. C. Semin. Med. Genet., 2004, 131C, 82-92. dx. doi. org/10. 1002/ajmg. c. 30037.
68. Green, C. L.; Khavari, P. A. Targets for molecular therapy of skin cancer. Semin. Cancer Biol., 2004, 14, 63-69. dx. doi. org/10. 1016/j. semcancer. 2003. 11. 007.
69. de Gruijl, F. R.; van Kranen, H. J.; Mullenders, L. H. UV-induced DNA damage, repair, mutations and oncogenic pathways in skin cancer. J. Photochem. Photobiol. B, 2001, 63, 19-27. dx. doi. org/10. 1016/S1011-1344(01)00199-3.
70. Lovatt, T. J.; Lear, J. T.; Bastrilles, J.; Wong, C.; Griffiths, C. E.; Samarasinghe, V.; Roebuck, J.; Ramachandran, S.; Smith, A. G.; Jones, P. W.; Fryer, A. A.; Strange, R. C. Associations between ultraviolet radiation, basal cell carcinoma site and histology, host characteristics, and rate of development of further tumors. J. Am. Acad. Dermatol., 2005, 52, 468-473. dx. doi. org/10. 1016/j. jaad. 2004. 08. 060.
71. Mohrenweiser, H. W.; Xi, T.; Vazquez-Matias, J.; Jones, I. M. Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans. Cancer Epidemiol. Biomarkers Prev., 2002, 11, 1054-1064. PMID: 12376507.
72. Festa, F.; Kumar, R.; Sanyal, S.; Unden, B.; Nordfors, L.; Lindholm, B.; Snellman, E.; Schalling, M.; Forsti, A.; Hemminki, K. Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism. Mutat. Res., 2005, 574, 105-111. dx. doi. org/10. 1016/j. mrfmmm. 2005. 01. 026.
73. Thirumaran, R. K.; Bermejo, J. L.; Rudnai, P.; Gurzau, E.; Koppova, K.; Goessler, W.; Vahter, M.; Leonardi, G. S.; Clemens, F.; Fletcher, T.; Hemminki, K.; Kumar, R. Single nucleotide polymorphisms in DNA repair genes and basal cell carcinoma of skin. Carcinogenesis, 2006, 27, 1676-1681./dx. doi. org/10. 1093/carcin/bgi381.
74. Knowles, M. A. The genetics of transitional cell carcinoma: progress and potential clinical application. BJU Int., 1999, 84, 412-427. DOI: 10. 1046/j. 1464-410x. 1999. 00217. x.
75. Ferlay, J.; Bray, F.; Pisani, P.; Parkin, D. M. GLOBOCAN 2002: cancer incidence, mortality and prevalence worldwide. IARC CancerBase No. 5. version 2. 0. IARC Press: Lyon, 2004.
76. Parkin, D. M. The global burden of urinary bladder cancer. Scand. J. Urol. Nephrol. Suppl., 2008, 218, 12-20. doi: 10. 1080/03008880802285032).
77. Ploeg, M.; Aben, K. K. H.; Kiemeney, L. A. The present and future burden of urinary bladder cancer in the world. World J. Urol., 2009, 27, 289-293. dx. doi. org/10. 1007/s00345-009-0383-3.
78. Cohen, S. M.; Shirai, T.; Steineck, G. Epidemiology and etiology of premalignant and malignant urothelial changes. Scand. J. Urol. Nephrol. Suppl., 2000, 205, 105-115 PMID: 11144890.
79. Berggren, P.; Steineck, G.; Adolfsson, J.; Hansson, J.; Jansson, O.; Larsson, P.; Sandstedt, B.; Wijkstrom, H.; Hemminki, K. p53 mutations in urinary bladder cancer. Br. J. Cancer, 2001, 84, 1505-1511. dx. doi. org/10. 1054/bjoc. 2001. 1823.
80. Kunze, E.; Chang-Claude, J.; Frentzel-Beyrne, R. Life style and occupational risk factors for bladder cancer in Germany. A casecontrol study. Cancer, 1992, 69, 1776-1790. dx. doi. org/10. 1002/1097-0142(19920401)69: 7<1776:: AID-CNCR282069072 1>3. 0. CO; 2-P.
81. Friedberg, E. C. DNA damage and repair. Nature, 2003, 421, 436-440. dx. doi. org/10. 1038/nature01408.
82. Sanyal, S.; Festa, F.; Sakano, S.; Zhang, Z.; Steineck, G.; Norming, U.; Wijkström, H.; Larsson, P.; Kumar, R.; Hemminki, K. Polymorphisms in DNA repair and metabolic genes in bladder cancer. Carcinogenesis, 2003, 25, 729-734. dx. doi. org/10. 1093/carcin/bgh058.
83. Stern, M. C.; Umbach, D. M.; van Gils, C. H.; Lunn, R. M.; Taylor, J. A. DNA repair gene XRCC1 polymorphisms, smoking and bladder cancer risk. Cancer Epidemiol. Biomarkers Prev., 2001, 10, 125-131. PMID: 11219769.
84. Stern, M. C.; Johnson, L. R.; Bell, D. A.; Taylor, J. A. XPD codon 751 polymorphism, metabolism genes, smoking and bladder cancer risk. Cancer Epidemiol. Biomarkers Prev., 2002a, 11, 1004-1011. PMID: 12376500.
85. Stern, M. C.; Umbach, D. M.; Lunn, R. M.; Taylor, J. A. DNA repair gene XRCC3 codon 241 polymorphism, its interaction with smoking and XRCC1 polymorphisms and bladder cancer risk. Cancer Epidemiol. Biomarkers Prev., 2002, 11, 939-943. PMID: 12223443.
86. Wang, L.; Habuchi, T.; Takahashi, T.; Mitsumori, K.; Kamoto, T.; Kakehi, Y.; Kakinuma, H.; Sato, K.; Nakamura, A.; Ogawa, O.; Kato, T. Cyclin D1 gene polymorphism is associated with an increased risk of urinary bladder cancer. Carcinogenesis, 2002, 23, 257-264. dx. doi. org/10. 1093/carcin/23. 2. 257.
87. Cortessis, V. K.; Siegmund, K.; Xue, S.; Ross, R. K.; Yu, M. C. A case-control study of cyclin D1 CCND1 870A/G polymorphism and bladder cancer. Carcinogenesis, 2003, 24, 1645-1650. dx. doi. org/10. 1093/carcin/bgg128.
88. Figueroa, J. D.; Malats, N.; Rothman, N.; Real, F. X.; Silverman, D.; Kogevinas, M.; Chanock, S.; Yeager, M.; Welch, R.; Dosemeci, M.; Tardón, A.; Serra, C.; Carrato, A.; García-Closas, R.; Castaño-Vinyals, G.; García-Closas, M. Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk. Carcinogenesis, 2007, 28, 1788-1793. dx. doi. org/10. 1093/carcin/bgm132.
89. Figueroa, J. D.; Malats, N.; Real, F. X.; Silverman, D.; Kogevinas, M.; Chanock, S.; Welch, R.; Dosemeci, M.; Tardón, A.; Serra, C.; Carrato, A.; García-Closas, R.; Castaño-Vinyals, G.; Rothman, N.; García-Closas, M. Genetic variation in the base excision repair pathway and bladder cancer risk. Hum. Genet., 2007, 121, 233-242. dx. doi. org/10. 1007/s00439-006-0294-y.
90. Choudhury, A.; Elliott, F.; Iles, M. M.; Churchman, M.; Bristow, R. G.; Bishop, D. T.; Kiltie, A. E. Analysis of variants in DNA damage signalling genes in bladder cancer. BMC Med. Genet., 2008, 9, 69. dx. doi. org/10. 1186/1471-2350-9-69.
91. Grotenhuis, A. J.; Vermeulen, S. H.; Kiemeney, L. A. Germline genetic markers for urinary bladder cancer risk, prognosis and treatment response. Future Oncol., 2010, 6, 1433-1460. dx. doi. org/10. 2217/fon. 10. 109.
92. Golka, K.; Selinski, S.; Lehmann, M. L.; Blaszkewicz, M.; Marchan, R.; Ickstadt, K.; Schwender, H.; Bolt, H. M.; Hengstler, J. G. Genetic variants in urinary bladder cancer: collective power of the "wimp SNPs. " Arch. Toxicol., 2011, 85, 539-554. dx. doi. org/10. 1007/s00204-011-0676-3.
93. Chang, D. W., Gu, J., Wu, X. Germline prognostic markers for urinary bladder cancer: obstacles and opportunities. Urol. Oncol., 2012, 30, 524-532. dx. doi. org/10. 1016/j. urolonc. 2012. 04. 003.
94. Dapic, V.; Carvalho, M. A.; Monteiro, A. N. Breast cancer susceptibility and the DNA damage response. Cancer Control., 2005, 12, 127-136. PMID: 15855896.
95. Silva, S. N.; Tomar, M.; Paulo, C.; Gomes, B. C.; Azevedo, A. P.; Teixeira, V.; Pina, J. E.; Rueff, J; Gaspar, J. F. Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51. Cancer Epidemiol., 2010, 34, 85-92. dx. doi. org/10. 1016/j. canep. 2009. 11. 002.
96. Ralhan, R.; Kaur, J.; Kreienberg, R.; Wiesmuller, L. Links between DNA double strand break repair and breast cancer: accumulating evidence from both familial and nonfamilial cases. Cancer Lett., 2007, 248, 1-17. dx. doi. org/10. 1016/j. canlet. 2006. 06. 004.
97. Antoniou, A. C.; Pharoah, P. D.; McMullan, G.; Day, N. E.; Ponder, B. A.; Easton, D. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet. Epidemiol., 2001, 21, 1-18. dx. doi. org/10. 1002/gepi. 1014.
98. Thompson, L. H. Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: the molecular choreography. Mutat Res., 2012, 751, 158-246. dx. doi. org/10. 1016/j. mrrev. 2012. 06. 002.
99. Stratton, M. R.; Rahman, N. The emerging landscape of breast cancer susceptibility. Nat. Genet., 2008, 40, 17-22. dx. doi. org/10. 1038/ng. 2007. 53.
100. Kuschel, B.; Auranen, A.; McBride, S.; Novik, K. L.; Antoniou, A.; Lipscombe, J. M.; Day, N. E.; Easton, D. F.; Ponder, B. A.; Pharoah, P. D.; Dunning, A. Variants in DNA double-strand break repair genes and breast cancer susceptibility. Hum. Mol. Genet., 2002, 11, 1399-1407. dx. doi. org/10. 1093/hmg/11. 12. 1399.
101. Millikan, R. C.; Player, J. S.; Decotret, A. R.; Tse, C. K.; Keku, T. Polymorphisms in DNA repair genes, medical exposure to ionizing radiation, and breast cancer risk. Cancer Epidemiol. Biomarkers Prev., 2005, 14, 2326-2334./dx. doi. org/10. 1158/1055-9965. EPI-05-0186.
102. Försti, A.; Angelini, S.; Festa, F.; Sanyal, S.; Zhang, Z.; Grzybowska, E.; Pamula, J.; Pekala, W.; Zientek, H.; Hemminki, K.; Kumar, R. Single nucleotide polymorphisms in breast cancer. Oncol Rep., 2004, 11, 917-922. PMID 15010895.
103. Zhang, L.; Zhang, Z.; Yan, W. Single nucleotide polymorphisms for DNA repair genes in breast cancer patients. Clin. Chim. Acta, 2005, 359, 150-155. dx. doi. org/10. 1016/j. cccn. 2005. 03. 047.
104. Smith, T. R.; Levine, E. A.; Freimanis, R. I.; Akman, S. A.; Allen, G. O.; Hoang, K. N.; Liu-Mares, W.; Hu, J. J. Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis, 2008, 29, 2132-2138. dx. doi. org/10. 1093/carcin/bgn193.
105. Desjardins, S.; Beauparlant, J. C.; Labrie, Y.; Ouellette, G.; Durocher, F. INHERIT BRCAs. Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer. BMC Cancer, 2009, 9, 181./dx. doi. org/10. 1186/1471-2407-9-181.
106. Hsu, H. M.; Wang, H. C.; Chen, S. T.; Hsu, G. C.; Shen, C. Y.; Yu, J. C. Breast cancer risk is associated with the genes encoding the DNA double-strand break repair Mre11/Rad50/Nbs1 complex. Cancer Epidemiol. Biomarkers Prev., 2007, 16, 2024-2032 dx. doi. org/10. 1158/1055-9965. EPI-07-0116.
107. Lu, J.; Wei, Q.; Bondy, M. L.; Li, D.; Brewster, A.; Shete, S.; Yu, T. K.; Sahin, A.; Meric-Bernstam, F.; Hunt, K. K.; Singletary, S. E.; Ross, M. I.; Wang, L. E. Polymorphisms and haplotypes of the NBS1 gene are associated with risk of sporadic breast cancer in non-Hispanic white women
108. Calvert, P. M.; Frucht, H. The genetics of colorectal cancer. Ann. Intern. Med., 2002, 137, 603-612.
109. Parkin, D. M.; Bray, F.; Ferlay, J.; Pisani, P. Global cancer statistics, 2002, CA. Cancer J. Clin., 2005, 55, 74-108./dx. doi. org/10. 3322/canjclin. 55. 2. 74.
110. Boyle, P.; Ferlay, J. Cancer incidence and mortality in Europe, 2004. Ann. Oncol., 2005, 16, 481-488. dx. doi. org/10. 1093/annonc/mdi015.
111. Pardini, B.; Naccarati, A.; Novotny, J.; Smerhovsky, Z.; Vodickova, L.; Polakova, V.; Hanova, M.; Slyskova, J.; Tulupova, E.; Kumar, R.; Bortlik, M.; Barale, R.; Hemminki, K.; Vodicka, P. DNA repair genetic polymorphisms and risk of colorectal cancer in the Czech Republic. Mutat. Res., 2008, 638, 146-153. dx. doi. org/10. 1016/j. mrfmmm. 2007. 09. 008.
112. De la Chapelle. A. Genetic predisposition to colorectal cancer. Nat. Rev. Cancer, 2004, 4, 769-780./dx. doi. org/10. 1038/nrc1453.
113. Giovannucci, E. An updated review of the epidemiological evidence that cigarette smoking increases risk of colorectal cancer. Cancer Epidemiol. Biomarkers Prev., 2001, 10, 725-731.
114. Terry, P.; Giovannucci, E.; Michels, K. B.; Bergkvist, L.; Hansen, H.; Holmberg, L.; Wolk, A. Fruit, vegetables, dietary fiber, and risk of colorectal cancer, J. Natl. Cancer Inst., 2001, 93, 525-533. dx. doi. org/10. 1093/jnci/93. 7. 525.
115. Jemal, A.; Seigel, R.; Ward, E.; Murray, T.; Xu, J.; Thun, M. J. Cancer statistics, 2007. CA Cancer J. Clin., 2007, 57, 43-66./dx. doi. org/10. 3322/canjclin. 57. 1. 43.
116. Ziółkowska-Suchanek, I.; Mosor, M.; Wierzbicka, M.; Fichna, M.; Rydzanicz, M.; Nowak, J. Association of polymorphisms and haplotypes of the NBN gene with laryngeal cancer and multiple primary tumors of the head and neck. Head Neck, 2012, 34, 376-383. dx. doi. org/10. 1002/hed. 21741.
117. Carvalho, A. L.; Nishimoto, I. N.; Califano, J. A.; Kowalski, L. P. Trends in incidence and prognosis for head and neck cancer in the United States: a site-specific analysis of the SEER database. Int. J. Cancer, 2005, 114, 806-808. dx. doi. org/10. 1002/ijc. 20740.
118. Jemal, A.; Seigel, R.; Ward, E.; Murray, T.; Xu, J.; Smigal, C.; Thun, M. J. Cancer statistics, 2006. CA Cancer J. Clin., 2006, 56, 106-130/dx. doi. org/10. 3322/canjclin. 56. 2. 106.
119. Lin, C. L.; Lo, W. F.; Lee, T. H.; Ren, Y.; Hwang, S. L.; Cheng, Y. F.; Chen, C. L.; Chang, Y. S.; Lee, S. P.; Rickinson, A. B.; Tam, P. K. Immunization with Epstein-Barr Virus (EBV) peptide-pulsed dendritic cells induces functional CD8{thorn} T-cell immunity and may lead to tumor regression in patients with EBV-positive nasopharyngeal carcinoma. Cancer Res., 2002, 62, 6952-6958 PMID: 12460912.
120. Chen, C. J.; Liang, K. Y.; Chang, Y. S., Wang, Y. F.; Hsieh, T.; Hsu, M. M.; Chen, J. Y.; Liu, M. Y. Multiple risk factors of nasopharyngeal carcinoma: Epstein-Barr virus, malarial infection, cigarette smoking and familial tendency. Anticancer Res., 1990, 10, 547-553. PMID: 2161639.
121. Gulley, M. L. Molecular diagnosis of Epstein-Barr virus-related diseases. J. Mol. Diagn., 2001, 3, 1-10. dx. doi. org/10. 1016/S1525-1578(10)60642-3.
122. Pattle, S. B.; Farrell, P. J. The role of Epstein-Barr virus in cancer. Expert Opin. Biol. Ther., 2006, 6, 1193-1205. dx. doi. org/10. 1517/14712598. 6. 11. 1193.
123. Zeng, Z.; Zhou, Y.; Zhang, W.; Li, X.; Xiong, W.; Liu, H.; Fan, S.; Qian, J.; Wang, L.; Li, Z.; Shen, S.; Li, G. Family-based association analysis validates chromosome 3p21 as a putative nasopharyngeal carcinoma susceptibility locus. Genet. Med., 2006, 8, 156-160./dx. doi. org/10. 1097/01. gim. 0000196821. 87655. d0.
124. Zeng, Z. Y.; Zhou, Y. H.; Zhang, W. L.; Xiong, W.; Fan, S. Q.; Li, X. L.; Luo, X. M.; Wu, M. H.; Yang, Y. X.; Huang, C.; Cao, L.; Tang, K.; Qian, J.; Shen, S. R.; Li, G. Y. Gene expression profiling of nasopharyngeal carcinoma reveals the abnormally regulated Wnt signaling pathway. Hum. Pathol., 2007, 38, 120-133. dx. doi. org/10. 1016/j. humpath. 2006. 06. 023.
125. Zheng, H.; Li, L. L.; Hu, D. S.; Deng, X. Y.; Cao, Y. Role of Epstein-Barr virus encoded latent membrane protein 1 in the carcinogenesis of nasopharyngeal carcinoma. Cell Mol. Immunol., 2007, 4, 185-196./dx. doi. org/10. 1016/j. humpath. 2006. 06. 023.
126. Zheng, J.; Zhang, C.; Jiang, L.; You, Y.; Liu, Y.; Lu, J.; Zhou, Y. Functional NBS1 polymorphism is associated with occurrence and advanced disease status of nasopharyngeal carcinoma. Mol. Carcinog., 2011, 50, 689-696. dx. doi. org/10. 1002/mc. 20803.
127. Perz, J. F.; Armstrong, G. L.; Farrington, L. A.; Hutin, Y. J.; Bell, B. P. The contributions of hepatitis B virus and hepatitis C virus infections to cirrhosis and primary liver cancer worldwide. J. Hepatol., 2006, 45, 529-538. dx. doi. org/10. 1016/j. jhep. 2006. 05. 013.
128. El-Serag, H. B.; Davila, J. A.; Petersen, N. J.; McGlynn, K. A. The continuing increase in the incidence of hepatocellular carcinoma in the United States: an update. Ann. Intern. Med., 2003, 139, 817-823. dx. doi. org/10. 7326/0003-4819-139-10-200311180-00009.
129. Shiraha, H.; Yamamoto, K.; Namba, M. Human hepatocyte carcinogenesis (review). Int. J. Oncol., 2013, 42, 1133-1138. doi: 10. 3892/ijo. 2013. 1829.
130. Davis, G. L.; Alter, M. J.; El-Serag, H.; Poynard, T.; Jennings, L. W. Aging of hepatitis C virus (HCV)-infected persons in the United States: a multiple cohort model of HCV prevalence and disease progression. Gastroenterology, 2010, 138, 513-521. doi: 10. 1053/j. gastro. 2009. 09. 067.
131. Mazzaferro, V.; Regalia, E.; Doci, R.; Andreola, S.; Pulvirenti, A.; Bozzetti, F.; Montalto, F.; Ammatuna, M.; Morabito, A.; Gennari, L. Liver transplantation for the treatment small hepatocellular carcinomas in patients with cirrhosis. N. Engl. J. Med., 1996, 334, 693-700. dx. doi. org/10. 1056/NEJM199603143341104.
132. Huang, M. D.; Chen, X. F.; Xu, G.; Wu, Q. Q.; Zhang, J. H.; Chen, G. F.; Cai, Y.; Qi, F. Z. Genetic variation in the NBS1 gene is associated with hepatic cancer risk in a Chinese population. DNA Cell Biol., 2012, 31, 678-82. dx. doi. org/10. 1089/dna. 2011. 1421.
133. Richardson, R. B. Promotional etiology for common childhood acute lymphoblastic leukemia: the infective lymphoid recovery hypothesis. Leuk. Res., 2011, 35, 1425-1431. dx. doi. org/10. 1016/j. leukres. 2011. 07. 023.
134. Sherborne, A. L.; Hemminki, K.; Kumar, R.; Bartram, C. R.; Stanulla, M.; Schrappe, M.; Petridou, E.; Semsei, A. F.; Szalai, C.; Sinnett, D.; Krajinovic, M.; Healy, J.; Lanciotti, M.; Dufour, C.; Indaco, S.; El-Ghouroury, E. A.; Sawangpanich, R.; Hongeng, S.; Pakakasama, S.; Gonzalez-Neira, A.; Ugarte, E. L.; Leal, V. P.; Espinoza, J. P.; Kamel, A. M.; Ebid, G. T.; Radwan, E. R.; Yalin, S.; Yalin, E.; Berkoz, M.; Simpson, J.; Roman, E.; Lightfoot, T.; Hosking, F. J.; Vijayakrishnan, J.; Greaves, M.; Houlston, R. S. Rationale for an international consortium to study inherited genetic susceptibility to childhood acute lymphoblastic leukemia. Haematologica, 2011, 96, 1049-1054. dx. doi. org/10. 3324/haematol. 2011. 040121.
135. Loh, M. L.; Mullighan, C. G. Advances in the genetics of high-risk childhood B-progenitor acute lymphoblastic leukemia and juvenile myelomonocytic leukemia: implications for therapy. Clin Cancer Res., 2012, 18, 2754-2767. dx. doi. org/10. 1158/1078-0432. CCR-11-1936.
136. Rubnitz, J. E.; Inaba, H. Childhood acute myeloid leukaemia. Br. J. Haematol., 2012, 159, 259-276. dx. doi. org/10. 1111/bjh. 12040.
137. Puumala, S. E.; Ross, J. A.; Aplenc, R.; Spector, L. G. Epidemiology of childhood acute myeloid leukemia. Pediatr. Blood Cancer, 2013, 60, 728-733 dx. doi. org/10. 1002/pbc. 24464.
138. Beyermann, B.; Agthe, A. G.; Adams, H. P.; Seeger, K.; Linderkamp, C.; Goetze, G.; Ludwig, W. D.; Henze, G. Clinical features and outcome of children marrow relapse of acute lymphoblastic leukemia expressing BCR-ABL fusion transcripts. BFM Relapse Study Group. Blood, 1996, 87, 1532-1538. PMID: 8608244.
139. Seeger, K.; Adams, H. P.; Buchwald, D.; Beyermann, B.; Kremens, B.; Niemeyer, C.; Ritter, J.; Schwabe, D.; Harms, D.; Schrappe, M.; Henze, G. TEL-AML1 fusion transcript in relapsed childhood acute lymphoblastic leukemia. The Berlin-Frankfurt-Munster Study Group. Blood, 1998, 91, 1716-1722. PMID: 9473238.
140. Offit, K. Introduction to Cancer Genetics and Risk Assessment. In: American Society of Hematology, Education Program Book, New Orleans: American Society of Hematology, 1999; pp. 9-17.
141. Richardson, C.; Jasin, M. Frequent chromosomal translocations induced by DNA double-strand breaks. Nature, 2000, 405, 697-700. PMID: 10864328.
142. Elliott, B.; Jasin, M. Double-strand breaks and translocations in cancer. Cell Mol. Life Sci., 2002, 59, 373-385. DOI: 10. 1007/s00018-002-8429-3.
143. Agarwal, S.; Tafel, A. A.; Kanaar, R. DNA double-strand break repair and chromosome translocations. DNA Repair (Amst), 2006, 5, 1075-1081. dx. doi. org/10. 1016/j. dnarep. 2006. 05. 029.
144. Chokkalingam, A. P.; Bartley, K.; Wiemels, J. L.; Metayer, C.; Barcellos, L. F.; Hansen, H. M.; Aldrich, M. C.; Guha, N.; Urayama, K. Y.; Scélo, G.; Chang, J. S.; Month, S. R.; Wiencke, J. K.; Buffler, P. A. Haplotypes of DNA repair and cell cycle control genes, X-ray exposure, and risk of childhood acute lymphoblastic leukemia. Cancer Causes Control, 2011, 22, 1721-1730. dx. doi. org/10. 1007/s10552-011-9848-y.
145. Schuetz, J. M.; MaCarthur, A. C.; Leach, S.; Lai, A. S.; Gallagher, R. P.; Connors, J. M.; Gascoyne, R. D.; Spinelli, J. J.; Brooks-Wilson, A. R. Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma. BMC Med. Genet., 2009, 10, 117. dx. doi. org/10. 1186/1471-2350-10-117.
146. Monroy, C. M.; Cortes, A. C.; Lopez, M.; Rourke, E.; Etzel, C. J.; Younes, A.; Strom, S. S.; El-Zein, R. Hodgkin lymphoma risk: role of genetic polymorphisms and gene-gene interactions in DNA repair pathways. Mol. Carcinog., 2011, 50, 825-834. dx. doi. org/10. 1002/mc. 20747.
147. Stiller, C. A.; Parkin, D. M. Geographic and ethnic variations in the incidence of childhood cancer. British Medical Bulletin, 1996, 52, 682-703. dx. doi. org/10. 1093/oxfordjournals. bmb. a011577.
148. Mosor, M.; Ziółkowska, I.; Januszkiewicz-Lewandowska, D.; Nowakm J. Polymorphisms and haplotypes of the NBS1 gene in childhood acute leukaemia. Eur. J. Cancer, 2008, 44, 2226-2232. dx. doi. org/10. 1016/j. ejca. 2008. 06. 026.
149. Li, N.; Xu, Y.; Zheng, J.; Jiang, L.; You, Y.; Wu, H.; Li, W.; Wu, D.; Zhou, Y. NBS1 rs1805794G>C polymorphism is associated with decreased risk of acute myeloid leukemia in a Chinese population. Mol. Biol. Rep., 2013, 40, 3749-3756. dx. doi. org/10. 1007/s11033-012-2451-9.
150. Goricar, K.; Erculj, N.; Zadel, M.; Dolzan, V. Genetic polymorphisms in homologous recombination repair genes in healthy Slovenian population and their influence on DNA damage. Radiol. Oncol., 2012, 46, 46-53. doi: 10. 2478/v10019-012-0001-7.
151. Herbst, R. S.; Heymach, J. V.; Lippman, S. M. Lung cancer. N. Engl. J. Med., 2008, 359, 1367-1380. dx. doi. org/10. 1056/NEJMra 0802714.
152. El-Basmy, A.; Al-Mohannadi, S.; Al-Awadi, A. Some epidemiological measures of cancer in kuwait: national cancer registry data from 2000-2009. Asian Pac. J. Cancer Prev., 2012, 13, 3113-3118. dx. doi. org/10. 7314/APJCP. 2012. 13. 7. 3113.
153. Pennathur, A.; Luketich, J. D. Multimodal treatment with surgical resection for stage IIIB non-small-cell lung cancer. Lancet Oncol., 2009, 10, 742-743. dx. doi. org/10. 1016/S1470-2045(09)70205-0.
154. De Ruysscher, D.; Faivre-Finn, C.; Nestle, U.; Hurkmans, C. W.; Le Péchoux, C.; Price, A.; Senan, S. European Organisation for Research and Treatment of Cancer recommendations for planning and delivery of high-dose, high-precision radiotherapy for lung cancer. J. Clin. Oncol., 2010, 28, 5301-5310. dx. doi. org/10. 1200/JCO. 2010. 30. 3271.
155. Fidias, P.; Novello, S. Strategies for prolonged therapy in patients with advanced non-small-cell lung cancer. J. Clin. Oncol., 2010, 28, 5116-5123. dx. doi. org/10. 1200/JCO. 2010. 30. 7074.
156. Goldstraw, P.; Ball, D.; Jett, J. R.; Le Chevalier, T.; Lim, E.; Nicholson, A. G.; Shepherd, F. A. Non-small-cell lung cancer. Lancet, 2011, 378, 1727-1740. dx. doi. org/10. 1016/S0140-6736(10)62101-0.
157. van Meerbeeck, J. P.; Fennell, D. A.; De Ruysscher, D. K. Small cell lung cancer. Lancet, 2011, 378, 1741-1755. dx. doi. org/10. 1016/S0140-6736(11)60165-7.
158. Brennan, P.; Hainaut, P.; Boffetta, P. Genetics of lung-cancer susceptibility. Lancet Oncol., 2011, 12, 399-408. dx. doi. org/10. 1016/S1470-2045(10)70126-1.
159. Dong, L. M.; Potter, J. D.; White, E.; Ulrich, C. M.; Cardon, L. R.; Peters, U. Genetic susceptibility to cancer: the role of polymorphisms in candidate genes. JAMA, 2008, 299, 2423-2436. dx. doi. org/10. 1001/jama. 299. 20. 2423.
160. Park, S. L.; Bastani, D.; Goldstein, B. Y.; Chang, S. C.; Cozen, W.; Cai, L.; Cordon-Cardo, C.; Ding, B.; Greenland, S.; He, N.; Hussain, S. K.; Jiang, Q.; Lee, Y. C.; Liu, S.; Lu, M. L.; Mack, T. M.; Mao, J. T.; Morgenstern, H.; Mu, L. N.; Oh, S. S.; Pantuck, A.; Papp, J. C.; Rao, J.; Reuter, V. E.; Tashkin, D. P.; Wang, H.; You, N. C.; Yu, S. Z.; Zhao, J. K.; Zhang, Z. F. Associations between NBS1 polymorphisms, haplotypes and smoking-related cancers. Carcinogenesis, 2010, 31, 1264-1271. dx. doi. org/10. 1093/carcin/bgq096.
161. 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, 699-704. PMID: 12917199.
162. Cho, S.; Kim, M. J.; Choi, Y. Y.; Yoo, S. S.; Lee, W. K.; Lee, E. J.; Jang, E. J.; Bae, E. Y.; Jin, G.; Jeon, H. S.; Lee, S. Y.; Cha, S. I.; Park, T. I.; Kim, C. H.; Park, J. Y. Associations between polymorphisms in DNA repair genes and TP53 mutations in non-small cell lung cancer. Lung Cancer, 2011, 73, 25-31. dx. doi. org/10. 1016/j. lungcan. 2010. 10. 023.
163. Kumar, R.; Tekkok, I. H.; Jones, R. A. Intracranial tumours in the first 18 months of life. Childs Nerv. Syst., 1990, 6, 371-374. dx. doi. org/10. 1007/BF00302220.
164. th ed.; Graham, D. I.; Lantos, P. L.; Eds.; Arnold: London, 2002; pp. 767-1052.
165. Louis, D. N.; Ohgaki, H.; Wiestler, O. D.; Cavenee, W. K.; Ed. WHO classification of tumours of the central nervous system. IARC: Lyon, 2007. ISBN-13 9789283224303.
166. Eberhart, C. G.; Cavenee, W. K.; Pietsch, T. Naevoid basal cell carcinoma syndrome. In: WHO classification of tumours of the central nervous system.; Louis, D. N.; Ohgaki, H.; Wiestler, O. D.; Cavenee, W. K.; Eds.; IARC: Lyon, 2007; pp. 232-233. ISBN-13 9789283224303.
167. Cavenee, W. K.; Burger, P. C.; Leung, S. Y.; VanMeir, E. G. Turcot syndrome. In: WHO classification of tumours of the central nervous system.; Louis, D. N.; Ohgaki, H.; Wiestler, O. D.; Cavenee, W. K.; Eds.; IARC: Lyon, 2007; pp. 229-231. ISBN-13 9789283224303.
168. Huang, J.; Grotzer, M. A.; Watanabe, T.; Hewer, E.; Pietsch, T.; Rutkowski, S.; Ohgaki, H. Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. Clin. Cancer Res., 2008, 14, 4053-4058. dx. doi. org/10. 1158/1078-0432. CCR-08-0098.
169. Hayward, N. K. Genetics of melanoma predisposition. Oncogene, 2003, 22, 3053-3062. dx. doi. org/10. 1038/sj. onc. 1206445.
170. Lafuente, A.; Molina, R.; Palou, J.; Castel, T.; Moral, A.; Trias, M. Phenotype of glutathione S-transferase Mu (GSTM1) and susceptibility to malignant melanoma. MMM group. Multidisciplinary Malignant Melanoma Group. Br. J. Cancer, 1995, 72, 324-326. dx. doi. org/10. 1038/bjc. 1995. 332.
171. Strange, R. C.; Ellison, T.; Ichii-Jones, F.; Bath, J.; Hoban, P.; Lear, J. T.; Smith, A. G.; Hutchinson, P. E.; Osborne, J.; Bowers, B.; Jones, P. W.; Fryer, A. A. Cytochrome P450 CYP2D6 genotypes: association with hair colour, Breslow thickness and melanocyte stimulating hormone receptor alleles in patients with malignant melanoma. Pharmacogenetics, 1999, 9, 269-276./dx. doi. org/10. 1097/00008571-199906000-00001.
172. Hutchinson, P. E.; Osborne, J. E.; Lear, J. T.; Smith, A. G.; Bowers, P. W.; Morris, P. N.; Jones, P. W.; York, C.; Strange, R. C.; Fryer, A. A. Vitamin D receptor polymorphisms are associated with altered prognosis in patients with malignant melanoma. Clin. Cancer Res., 2000, 6, 498-504. PMID: 10690530.
173. Box, N. F.; Duffy, D. L.; Chen, W.; Stark, M.; Martin, N. G.; Sturm, R. A.; Hayward, N. K. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am. J. Hum. Genet., 2001, 69, 765-773. dx. doi. org/10. 1086/323412.
174. Shahbazi, M.; Pravica, V.; Nasreen, N.; Fakhoury, H.; Fryer, A. A.; Strange, R. C., Hutchinson, P. E.; Osborne, J. E.; Lear, J. T.; Smith, A. G.; Hutchinson, I. V. Association between functional polymorphism in EGF gene and malignant melanoma. Lancet, 2002, 359, 397-401. dx. doi. org/10. 1016/S0140-6736(02)07600-6.
175. Meyer, P.; Sergi, C.; Garbe, C. Polymorphisms of the BRAF gene predispose males to malignant melanoma. J. Carcinog., 2003, 2, 7. DOI: 10. 1186/1477-3163-2-7.
176. Halsall, J. A.; Osborne, J. E.; Potter, L.; Pringle, J. H.; Hutchinson, P. E. A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibility and prognosis in malignant melanoma. Br. J. Cancer, 2004, 91, 765-770. PMID: 15238985.
177. James, M. R.; Roth, R. B.; Shi, M. M.; Kammerer, S.; Nelson, M. R.; Stark, M. S.; Dumenil, T.; Montgomery, G. W.; Hayward, N. K.; Martin, N. G.; Braun, A.; Duffy, D. L. BRAF polymorphisms and risk of melanocytic neoplasia. J. Invest. Dermatol., 2005, 125, 1252-1258./dx. doi. org/10. 1111/j. 0022-202X. 2005. 23937. x.
178. Seemanová, E.; Sperling, K.; Neitzel, H.; Varon, R.; Hadac, J.; Butova, O.; Schröck, E.; Seeman, P.; Digweed, M. Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. J. Med. Genet., 2005, 43, 218-224./dx. doi. org/10. 1136/jmg. 2005. 035287.
179. DiSaia, P. J.; Creasman, W. T. Clinical gynecologic oncology. 6th ed.; Mosby Inc.: St. Louis, 2002; p 289. ISBN 032301089X.
180. Fathalla, M. F. Incessant ovulation-a factor in ovarian neoplasia? Lancet, 1971, 298, 163. doi: 10. 1016/S0140-6736(71)92335-X.
181. Godwin, A. K.; Testa, J. R.; Handel, L. M.; Liu, Z.; Vanderveer, L. A.; Tracey, P. A.; Hamilton, T. C. Spontaneous transformation of rat ovarian surface epithelial cells: association with cytogenetic changes and implications of repeated ovulation in the etiology of ovarian cancer. J. Natl. Cancer Inst., 1992, 84, 592-601. dx. doi. org/10. 1093/jnci/84. 8. 592.
182. Auranen, A.; Song, H.; Waterfall, C.; Dicioccio, R. A.; Kuschel, B.; Kjaer, S. K.; Hogdall, E.; Hogdall, C.; Stratton, J.; Whittemore, A. S.; Easton, D. F.; Ponder, B. A.; Novik, K. L.; Dunning, A. M.; Gayther, S.; Pharoah, P. D. Polymorphisms in DNA repair genes and epithelial ovarian cancer risk. Int. J. Cancer, 2005, 117, 611-618./dx. doi. org/10. 1002/ijc. 21047.
183. Jemal, A.; Murray T, Ward E, Samuels, A.; Tiwari, R. C.; Ghafoor, A.; Feuer, E. J.; Thun, M. J. Cancer statistics, 2005. CA Cancer J. Clin., 2005, 55, 10-30. dx. doi. org/10. 3322/canjclin. 55. 1. 10.
184. Nelson, W. G.; De Marzo, A. M.; DeWeese, T. L.; Isaacs, W. B. The role of inflammation in the pathogenesis of prostate cancer [discussion S11-2]. J. Urol., 2004, 172, S6-S11. dx. doi. org/10. 1097/01. ju. 0000142058. 99614. ff.
185. Schaid, D. J. The complex genetic epidemiology of prostate cancer. Hum. Mol. Genet., 2004, 13, R103-R121. doi: 10. 1093/hmg/ddh072.
186. Silva, J.; Teixeira, A. L.; Lobo, F.; Maurício, J.; Medeiros, R. DNA repair system and prostate cancer progression: the role of NBS1 polymorphism (rs1805794). DNA Cell Biol., 2012, 31, 1182-1186. dx. doi. org/10. 1089/dna. 2011. 1562.
187. Lipworth, L.; Tarone, R. E.; McLaughlin, J. K. The epidemiology of renal cell carcinoma. J. Urol., 2006, 176, 2353-2358. dx. doi. org/10. 1016/j. juro. 2006. 07. 130.
188. Christmann, M.; Tomicic, M. T.; Roos, W. P.; Kaina, B. Mechanisms of human DNA repair: an update. Toxicology, 2003, 193, 3-34. dx. doi. org/10. 1016/S0300-483X(03)00287-7.
189. Hirata, H.; Hinoda, Y.; Matsuyama, H.; Tanaka, Y.; Okayama, N.; Suehiro, Y.; Zhao, H.; Urakami, S.; Kawamoto, K.; Kawakami, T.; Igawa, M.; Naito, K.; Dahiya, R. Polymorphisms of DNA repair genes are associated with renal cell carcinoma. Biochem. Biophys. Res. Commun., 2006, 342, 1058-1062. dx. doi. org/10. 1016/j. bbrc. 2006. 02. 030.
190. Margulis, V.; Lin, J.; Yang, H.; Wang, W.; Wood, C. G.; Wu, X. Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway. Cancer Epidemiol. Biomarkers Prev., 2008, 17, 2366-2373. dx. doi. org/10. 1158/1055-9965. EPI-08-0259.
191. Bastos, H. N.; Antão, M. R.; Silva, S. N.; Azevedo, A. P., Manita, I.; Teixeira, V.; Pina, J. E.; Gil, O. M.; Ferreira, T. C.; Limbert, E.; Rueff, J.; Gaspar, J. F. Association of polymorphisms in genes of the homologous recombination DNA repair pathway and thyroid cancer risk. Thyroid, 2009, 19, 1067-1075. dx. doi. org/10. 1089/thy. 2009. 0099.
192. Ron, E.; Lubin, J. H.; Shore, R. E.; Mabuchi, K.; Modan, B.; Pottern, L. M.; Schneider, A. B.; Tucker, M. A.; Boice, J. D. Jr. Thyroid cancer after exposure to external radiation: a pooled analysis of seven studies. Radiat. Res., 1995, 141, 259-277.
193. Lund, E.; Galanti, M. R. Incidence of thyroid cancer in Scandinavia following fallout from atomic bomb testing: an analysis of birth cohorts. Cancer Causes Control., 1999, 10, 181-187. PMID: 10454063.
194. Schlumberger, M.; Cailleux, A. F.; Suarez, H. G.; Vathaire, F. Irradiation and second cancers: the thyroid as a case in point. Acad. Sci. Paris Sci. de la vie, 1999, 32, 205-213. dx. doi. org/10. 1016/S0764-4469(99)80045-6.
195. Kirsch-Volders, M.; Mateuca, R. A.; Roelants, M.; Tremp, A.; Zeiger, E.; Bonassi, S.; Holland, N.; Chang, W. P.; Aka, P. V.; Deboeck, M.; Godderis, L.; Haufroid, V.; Ishikawa, H.; Laffon, B.; Marcos, R.; Migliore, L.; Norppa, H.; Teixeira, J. P.; Zijno, A.; Fenech, M. The effects of GSTM1 and GSTT1 polymorphisms on micronucleus frequencies in human lymphocytes in vivo. Cancer Epidemiol. Biomark Prev., 2006, 15, 1038-1042./dx. doi. org/10. 1158/1055-9965. EPI-05-0487.
196. Lu, M.; Lu, J.; Yang, X.; Yang, M.; Tan, H.; Yun, B.; Shi, L. Association between the NBS1 E185Q polymorphism and cancer risk: a meta-analysis. BMC Cancer, 2009, 9, 124. dx. doi. org/10. 1186/1471-2407-9-124.
197. Wang, Z.; Cui, D.; Lu, W. NBS1 8360G > C polymorphism is associated with breast cancer risk: a meta-analysis. Breast Cancer Res. Treat., 2010, 123, 557-561. dx. doi. org/10. 1007/s10549-010-0772-8.
198. Wang, L.; Cheng, J.; Gao, J.; Wang, J.; Liu, X.; Xiong, L. Association between the NBS1 Glu185Gln polymorphism and lung cancer risk: a systemic review and meta-analysis. Mol. Biol. Rep., 2013, 3, 2711-2715. dx. doi. org/10. 1007/s11033-012-2358-5.
199. Zienolddiny, S.; Campa, D.; Lind, H.; Ryberg, D.; Skaug, V.; Stangeland, L.; Phillips, D. H.; Canzian, F.; Haugen, A. Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. Carcinogenesis, 2006, 27, 560-567. dx. doi. org/10. 1093/carcin/bgi232.
200. Ryk, C.; Kumar, R.; Thirumaran, R. K.; Hou SM. 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, 285-292. dx. doi. org/10. 1016/j. lungcan. 2006. 08. 004.
201. Stern, M. C.; Lin, J.; Figueroa, J. D.; Kelsey, K. T.; Kiltie, A. E.; Yuan, J. M.; Matullo, G.; Fletcher, T.; Benhamou, S.; Taylor, J. A.; Placidi, D.; Zhang, Z. F.; Steineck, G.; Rothman, N.; Kogevinas, M.; Silverman, D.; Malats, N.; Chanock, S.; Wu, X.; Karagas, M. R.; Andrew, A. S.; Nelson, H. H.; Bishop, D. T.; Sak, S. C.; Choudhury, A.; Barrett, J. H.; Elliot, F.; Corral, R.; Joshi, A. D.; Gago-Dominguez, M.; Cortessis, V. K.; Xiang, Y. B.; Gao, Y. T.; Vineis, P.; Sacerdote, C.; Guarrera, S.; Polidoro, S.; Allione, A.; Gurzau, E.; Koppova, K.; Kumar, R.; Rudnai, P.; Porru, S.; Carta, A.; Campagna, M.; Arici, C.; Park, S. S.; Garcia-Closas, M.; International Consortium of Bladder Cancer. Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer. Cancer Res., 2009, 69, 6857-6864. dx. doi. org/10. 1158/0008-5472. CAN-09-1091.
202. Ioannidis, J. P.; Boffetta, P.; Little, J.;, O'Brien, T. R.; Uitterlinden, A. G.; Vineis, P.; Balding, D. J.; Chokkalingam, A.; Dolan, S. M.; Flanders, W. D.; Higgins, J. P.; McCarthy, M. I.; McDermott, D. H.; Page, G. P.; Rebbeck, T. R.; Seminara, D.; Khoury, M. J. Assessment of cumulative evidence on genetic associations: interim guidelines. Int. J. Epidemiol., 2008, 37, 120-32. dx. doi. org/10. 1093/ije/dym159.
203. Vineis, P.; Manuguerra, M.; Kavvoura, F. K.; Guarrera, S.; Allione, A.; Rosa, F.; Di Gregorio, A.; Polidoro, S.; Saletta, F.; Ioannidis, J. P.; Matullo, G. A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility. J. Natl. Cancer Inst., 2009, 101, 24-36. dx. doi. org/10. 1093/jnci/djn437.
204. Ricceri, F.; Matullo, G.; Vineis, P. Is there evidence of involvement of DNA repair polymorphisms in human cancer? Mutat. Res., 2012, 736, 117-121. dx. doi. org/10. 1016/j. mrfmmm. 2011. 07. 013.
205. 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., 2000, 14, 927-939. PMID: 10783165.