Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population

Journal of Experimental and Clinical Cancer Research

Volumn 28, Issue 1, 2009, Pages

  Mitra, Amit Kumar ^a   Singh, Neetu ^a   Garg, Vivek Kumar ^b   Chaturvedi, Rashmi ^b   Sharma, Mandira ^b   Rath, Srikanta Kumar ^a  

^a CENTRAL DRUG RESEARCH INSTITUTE   (India)

^b Lucknow Cancer Institute   (India)

Author keywords

[No Author keywords available]

Indexed keywords

XERODERMA PIGMENTOSUM GROUP D PROTEIN;

ARTICLE; BLOOD SAMPLING; BREAST CANCER; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HEAD AND NECK CARCINOMA; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INDIA; INDIAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; SQUAMOUS CELL CARCINOMA; STATISTICAL SIGNIFICANCE; ASIAN; BREAST TUMOR; CASE CONTROL STUDY; DNA REPAIR; GENETIC PREDISPOSITION; GENETICS; HEAD AND NECK TUMOR;

ASIAN CONTINENTAL ANCESTRY GROUP; BREAST NEOPLASMS; CARCINOMA, SQUAMOUS CELL; CASE-CONTROL STUDIES; DNA REPAIR; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEAD AND NECK NEOPLASMS; HUMANS; INDIA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 69049092766     PISSN: None     EISSN: 17569966     Source Type: Journal    
DOI: 10.1186/1756-9966-28-104     Document Type: Article

References (62)

1. Genome maintenance mechanisms for preventing cancer. JH Hoeijmakers, Nature 2001 411 366 374 10.1038/35077232 11357144
2. Participation of p53 protein in the cellular response to DNA damage. MB Kastan O Onyekwere D Sidransky B Vogelstein RW Craig, Cancer Res 1991 51 6304 6311 1933891
3. Identification of FAP locus genes from chromosome 5q21. KW Kinzler MC Nilbert LK Su B Vogelstein TM Bryan DB Levy KJ Smith AC Preisinger P Hedge D McKechnie, Science 1991 253 661 665 10.1126/science.1651562 1651562
4. A cancer family syndrome in twenty-four kindreds. FP Li JF Fraumeni Jr JJ Mulvihill WA Blattner MG Dreyfus MA Tucker RW Miller, Cancer Res 1988 48 5358 5362 3409256
5. Population genetics of BRCA1 and BRCA2. CI Szabo MC King, Am J Hum Genet 1997 60 1013 1020 9150148
6. Selected medical conditions and risk of breast cancer. R Talamini S Franceschi A Favero E Negri F Parazzini VC La, Br J Cancer 1997 75 1699 1703 9184190
7. Risk factors for childhood melanoma in Queensland, Australia. DC Whiteman P Valery W McWhirter AC Green, Int J Cancer 1997 70 26 31 10.1002/(SICI)1097- 0215(19970106)70:1<26::AID-IJC4>3.0.CO;2-8 8985086
8. Cigarette tar causes single-strand breaks in DNA. ET Borish JP Cosgrove DF Church WA Deutsch WA Pryor, Biochem Biophys Res Commun 1985 133 780 786 10.1016/0006-291X(85)90972-6 3002358
9. Estimates of the worldwide incidence of eighteen major cancers in 1985. DM Parkin P Pisani J Ferlay, Int J Cancer 1993 54 594 606 10.1002/ijc.2910540413 8514451
10. Tea and cancer: a review of the epidemiological evidence. WJ Blot WH Chow JK McLaughlin, Eur J Cancer Prev 1996 5 425 438 9061273
11. Understanding breast cancer risk - where do we stand in 2005? RG Dumitrescu I Cotarla, J Cell Mol Med 2005 9 208 221 10.1111/j.1582-4934.2005. tb00350.x 15784178
12. DNA repair fine structure and its relations to genomic instability. VA Bohr, Carcinogenesis 1995 16 2885 2892 10.1093/carcin/16.12.2885 8603460
13. Mammalian nucleotide excision repair. L Ma JH Hoeijmakers AJ van der Eb, Biochim Biophys Acta 1995 1242 137 163 7492568
14. Editing DNA replication and recombination by mismatch repair: from bacterial genetics to mechanisms of predisposition to cancer in humans. M Radman I Matic JA Halliday F Taddei, Philos Trans R Soc Lond B Biol Sci 1995 347 97 103 10.1098/rstb.1995.0015 7746861
15. Genomic instability and cancer. TD Tlsty A Briot A Gualberto I Hall S Hess M Hixon D Kuppuswamy S Romanov M Sage A White, Mutat Res 1995 337 1 7 7596354
16. Reduced DNA repair capacity in head and neck cancer patients. L Cheng SA Eicher Z Guo WK Hong MR Spitz Q Wei, Cancer Epidemiol Biomarkers Prev 1998 7 465 468 9641488
17. Variants in DNA double-strand break repair genes and breast cancer susceptibility. B Kuschel A Auranen S McBride KL Novik A Antoniou JM Lipscombe NE Day DF Easton BA Ponder PD Pharoah A Dunning, Hum Mol Genet 2002 11 1399 1407 10.1093/hmg/11.12.1399 12023982
18. Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans. HW Mohrenweiser T Xi J Vazquez-Matias IM Jones, Cancer Epidemiol Biomarkers Prev 2002 11 1054 1064 12376507
19. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. MR Shen IM Jones H Mohrenweiser, Cancer Res 1998 58 604 608 9485007
20. Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal. SG Clarkson RD Wood, DNA Repair (Amst) 2005 4 1068 1074 10.1016/j.dnarep.2005.07.001 16054878
21. XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32)P-DNA adducts in a sample of healthy subjects. G Matullo D Palli M Peluso S Guarrera S Carturan E Celentano V Krogh A Munnia R Tumino S Polidoro A Piazza P Vineis, Carcinogenesis 2001 22 1437 1445 10.1093/carcin/22.9.1437 11532866
22. XRCC1 genotype and breast cancer: functional studies and epidemiologic data show interactions between XRCC1 codon 280 His and smoking. BF Pachkowski S Winkel Y Kubota JA Swenberg RC Millikan J Nakamura, Cancer Res 2006 66 2860 2868 10.1158/0008-5472.CAN-05-3388 16510609
23. Genetic polymorphisms in DNA repair genes and risk of lung cancer. D Butkiewicz M Rusin L Enewold PG Shields M Chorazy CC Harris, Carcinogenesis 2001 22 593 597 10.1093/carcin/22.4.593 11285194
24. Excision repair in mammalian cells. A Sancar, J Biol Chem 1995 270 15915 15918 7608140
25. ERCC2/XPD gene polymorphisms and lung cancer: a HuGE review. S Benhamou A Sarasin, Am J Epidemiol 2005 161 1 14 10.1093/aje/kwi018 15615908
26. Modulation of repair of ultraviolet damage in the host-cell reactivation assay by polymorphic XPC and XPD/ERCC2 genotypes. Y Qiao MR Spitz H Shen Z Guo S Shete M Hedayati L Grossman H Mohrenweiser Q Wei, Carcinogenesis 2002 23 295 299 10.1093/carcin/23.2.295 11872635
27. Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. MR Spitz X Wu Y Wang LE Wang S Shete CI Amos Z Guo L Lei H Mohrenweiser Q Wei, Cancer Res 2001 61 1354 1357 11245433
28. Functional characterization of polymorphisms in DNA repair genes using cytogenetic challenge assays. WW Au SA Salama CH Sierra-Torres, Environ Health Perspect 2003 111 1843 1850 14630517
29. Use of biomarkers to characterize functions of polymorphic DNA repair genotypes. WW Au P Navasumrit M Ruchirawat, Int J Hyg Environ Health 2004 207 301 313 10.1078/1438-4639-00294 15471094
30. Importance of xeroderma pigmentosum group D polymorphisms in susceptibility to ovarian cancer. S Costa D Pinto D Pereira A Vasconcelos C fonso-Lopes T Osorio C Lopes R Medeiros, Cancer Lett 2007 246 324 330 10.1016/j.canlet.2006.03.014 16677755
31. XPD polymorphisms: effects on DNA repair proficiency. RM Lunn KJ Helzlsouer R Parshad DM Umbach EL Harris KK Sanford DA Bell, Carcinogenesis 2000 21 551 555 10.1093/carcin/21.4.551 10753184
32. Functional significance of XPD polymorphic variants: attenuated apoptosis in human lymphoblastoid cells with the XPD 312 Asp/Asp genotype. H Seker D Butkiewicz ED Bowman M Rusin M Hedayati L Grossman CC Harris, Cancer Res 2001 61 7430 7434 11606376
33. Repair of tobacco carcinogen-induced DNA adducts and lung cancer risk: a molecular epidemiologic study. Q Wei L Cheng CI Amos LE Wang Z Guo WK Hong MR Spitz, J Natl Cancer Inst 2000 92 1764 1772 10.1093/jnci/92.6.440 11058619
34. ERCC2/XPD gene polymorphisms and cancer risk. S Benhamou A Sarasin, Mutagenesis 2002 17 463 469 10.1093/mutage/17.6.463 12435843
35. Associations between ERCC2 polymorphisms and gliomas. M Caggana J Kilgallen JM Conroy JK Wiencke KT Kelsey R Miike P Chen MR Wrensch, Cancer Epidemiol Biomarkers Prev 2001 10 355 360 11319176
36. Association of an ERCC1 polymorphism with adult-onset glioma. P Chen J Wiencke K Aldape A Kesler-Diaz R Miike K Kelsey M Lee J Liu M Wrensch, Cancer Epidemiol Biomarkers Prev 2000 9 843 847 10952103
37. Polymorphisms in DNA repair genes and associations with cancer risk. EL Goode CM Ulrich JD Potter, Cancer Epidemiol Biomarkers Prev 2002 11 1513 1530 12496039
38. The XPD variant alleles are associated with increased aromatic DNA adduct level and lung cancer risk. SM Hou S Falt S Angelini K Yang F Nyberg B Lambert K Hemminki, Carcinogenesis 2002 23 599 603 10.1093/carcin/23.4.599 11960912
39. ERCC2 genotypes and a corresponding haplotype are linked with breast cancer risk in a German population. C Justenhoven U Hamann B Pesch V Harth S Rabstein C Baisch C Vollmert T Illig YD Ko T Bruning H Brauch, Cancer Epidemiol Biomarkers Prev 2004 13 2059 2064 15598761
40. Sequence variations in the DNA repair gene XPD and risk of lung cancer in a Chinese population. G Liang D Xing X Miao W Tan C Yu W Lu D Lin, Int J Cancer 2003 105 669 673 10.1002/ijc.11136 12740916
41. Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer. R Mort L Mo C McEwan DW Melton, Br J Cancer 2003 89 333 337 10.1038/sj.bjc.6601061 12865926
42. Nucleotide excision repair. A Sancar MS Tang, Photochem Photobiol 1993 57 905 921 10.1111/j.1751-1097.1993.tb09233.x 8393197
43. XRCC1 codon 399 and ERCC2 codon 751 polymorphism, smoking, and drinking and risk of esophageal squamous cell carcinoma in a North Indian population. RC Sobti J Singh P Kaur SS Pachouri EA Siddiqui HS Bindra, Cancer Genet Cytogenet 2007 175 91 97 10.1016/j.cancergencyto.2007.01.001 17556064
44. XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis. EM Sturgis R Zheng L Li EJ Castillo SA Eicher M Chen SS Strom MR Spitz Q Wei, Carcinogenesis 2000 21 2219 2223 10.1093/carcin/21.12.2219 11133811
45. Polymorphisms in the DNA repair enzyme XPD are associated with increased levels of PAH-DNA adducts in a case-control study of breast cancer. D Tang S Cho A Rundle S Chen D Phillips J Zhou Y Hsu F Schnabel A Estabrook FP Perera, Breast Cancer Res Treat 2002 75 159 166 10.1023/A:1019693504183 12243508
46. ERCC1 and ERCC2 polymorphisms and adult glioma. M Wrensch KT Kelsey M Liu R Miike M Moghadassi JD Sison K Aldape A McMillan J Wiemels JK Wiencke, Neuro Oncol 2005 7 495 507 16212814 10.1215/S1152851705000037
47. Polymorphisms of DNA repair genes XRCC1 and XPD and their associations with risk of esophageal squamous cell carcinoma in a Chinese population. D Xing J Qi X Miao W Lu W Tan D Lin, Int J Cancer 2002 100 600 605 10.1002/ijc.10528 12124811
48. Polymorphisms of the DNA repair gene XPD and risk of lung cancer in a Chinese population. D Xing W Tan Q Wei D Lin, Lung Cancer 2002 38 123 129 10.1016/S0169-5002(02)00184-8 12399122
49. Morphological composition of the people of India. KC Malhotra, J Hum Evol 1978 7 45 63 10.1016/S0047-2484(78)80035-9
50. In the Indian human heritage. M Gadgil NV Joshi UV Prasad S Manoharan S Patil, Universities Press; Hyderabad 1998 100 129
51. The 14th Datta Lecture. TFIIH: from transcription to clinic. JM Egly, FEBS Lett 2001 498 124 128 10.1016/S0014-5793(01)02458-9 11412842
52. How nucleotide excision repair protects against cancer. EC Friedberg, Nat Rev Cancer 2001 1 22 33 10.1038/35094000 11900249
53. Preferential repair of ionizing radiation-induced damage in the transcribed strand of an active human gene is defective in Cockayne syndrome. SA Leadon PK Cooper, Proc Natl Acad Sci USA 1993 90 10499 10503 8248136 10.1073/pnas.90.22.10499
54. DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions. MS Satoh CJ Jones RD Wood T Lindahl, Proc Natl Acad Sci USA 1993 90 6335 6339 8327515 10.1073/pnas.90.13. 6335
55. Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. F Coin JC Marinoni C Rodolfo S Fribourg AM Pedrini JM Egly, Nat Genet 1998 20 184 188 10.1038/2491 9771713
56. Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relationship to breast cancer risk and familial predisposition to breast cancer. AM Brewster TJ Jorgensen I Ruczinski HY Huang S Hoffman L Thuita C Newschaffer RM Lunn D Bell KJ Helzlsouer, Breast Cancer Res Treat 2006 95 73 80 10.1007/s10549-005-9045-3 16319991
57. DNA repair gene polymorphisms and susceptibility to familial breast cancer in a group of patients from Campinas, Brazil. RM Dufloth S Costa F Schmitt LC Zeferino, Genet Mol Res 2005 4 771 782 16475125
58. XRCC1 and XPD genetic polymorphisms, smoking and breast cancer risk in a Finnish case-control study. K Metsola V Kataja P Sillanpaa P Siivola L Heikinheimo M Eskelinen VM Kosma M Uusitupa A Hirvonen, Breast Cancer Res 2005 7 R987 R997 16280050 10.1186/bcr1333
59. Reduced DNA repair of benzo[a]pyrene diol epoxide-induced adducts and common XPD polymorphisms in breast cancer patients. Q Shi LE Wang ML Bondy A Brewster SE Singletary Q Wei, Carcinogenesis 2004 25 1695 1700 10.1093/carcin/bgh167 15090466
60. DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk. D Bernard-Gallon R Bosviel L Delort L Fontana A Chamoux N Rabiau F Kwiatkowski N Chalabi S Satih YJ Bignon, Mol Cancer 2008 7 36 18454848 10.1186/1476-4598-7-36
61. Polymorphism in the DNA repair gene XPD, polycyclic aromatic hydrocarbon-DNA adducts, cigarette smoking, and breast cancer risk. MB Terry MD Gammon FF Zhang SM Eng SK Sagiv AB Paykin Q Wang S Hayes SL Teitelbaum AI Neugut RM Santella, Cancer Epidemiol Biomarkers Prev 2004 13 2053 2058 15598760
62. Single nucleotide polymorphisms of DNA repair genes XRCC1 and XPD and its molecular mapping in Indian oral cancer. S Ramachandran K Ramadas R Hariharan KR Rejnish PM Radhakrishna, Oral Oncol 2006 42 350 362 10.1016/j.oraloncology. 2005.08.010 16324877