메뉴 건너뛰기




Volumn 10, Issue 4, 2014, Pages

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

(197)  Osorio, Ana a,b   Milne, Roger L c   Kuchenbaecker, Karoline d   Vaclová, Tereza a   Pita, Guillermo a   Alonso, Rosario a   Peterlongo, Paolo e   Blanco, Ignacio f   de la Hoya, Miguel g   Duran, Mercedes h   Díez, Orland i   Ramón y Cajal, Teresa j   Konstantopoulou, Irene k   Martínez Bouzas, Cristina l   Andrés Conejero, Raquel m   Soucy, Penny n   McGuffog, Lesley d   Barrowdale, Daniel d   Lee, Andrew d   Arver, Brita p   more..


Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA GLYCOSYLTRANSFERASE; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN, HUMAN;

EID: 84901332067     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004256     Document Type: Article
Times cited : (46)

References (42)
  • 1
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
    • Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, et al. (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72: 1117-1130.
    • (2003) Am J Hum Genet , vol.72 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.2    Narod, S.3    Risch, H.A.4    Eyfjord, J.E.5
  • 2
    • 33644895048 scopus 로고    scopus 로고
    • Characterization of BRCA1 and BRCA2 mutations in a large United States sample
    • Chen S, Iversen ES, Friebel T, Finkelstein D, Weber BL, et al. (2006) Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol 24: 863-871.
    • (2006) J Clin Oncol , vol.24 , pp. 863-871
    • Chen, S.1    Iversen, E.S.2    Friebel, T.3    Finkelstein, D.4    Weber, B.L.5
  • 3
    • 52049095304 scopus 로고    scopus 로고
    • The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
    • Milne RL, Osorio A, Cajal TR, Vega A, Llort G, et al. (2008) The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin Cancer Res 14: 2861-2869.
    • (2008) Clin Cancer Res , vol.14 , pp. 2861-2869
    • Milne, R.L.1    Osorio, A.2    Cajal, T.R.3    Vega, A.4    Llort, G.5
  • 4
    • 34250164598 scopus 로고    scopus 로고
    • An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
    • Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, et al. (2007) An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res 9: 104.
    • (2007) Breast Cancer Res , vol.9 , pp. 104
    • Chenevix-Trench, G.1    Milne, R.L.2    Antoniou, A.C.3    Couch, F.J.4    Easton, D.F.5
  • 5
    • 84862821318 scopus 로고    scopus 로고
    • Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    • Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, et al. (2012) Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res 14: R33.
    • (2012) Breast Cancer Res , vol.14
    • Antoniou, A.C.1    Kuchenbaecker, K.B.2    Soucy, P.3    Beesley, J.4    Chen, X.5
  • 6
    • 41649097333 scopus 로고    scopus 로고
    • Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    • Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, et al. (2008) Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet 82: 937-948.
    • (2008) Am J Hum Genet , vol.82 , pp. 937-948
    • Antoniou, A.C.1    Spurdle, A.B.2    Sinilnikova, O.M.3    Healey, S.4    Pooley, K.A.5
  • 7
    • 71049194443 scopus 로고    scopus 로고
    • Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
    • Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, et al. (2009) Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 18: 4442-4456.
    • (2009) Hum Mol Genet , vol.18 , pp. 4442-4456
    • Antoniou, A.C.1    Sinilnikova, O.M.2    McGuffog, L.3    Healey, S.4    Nevanlinna, H.5
  • 8
    • 77957568513 scopus 로고    scopus 로고
    • A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
    • Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, et al. (2010) A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet 42: 885-892.
    • (2010) Nat Genet , vol.42 , pp. 885-892
    • Antoniou, A.C.1    Wang, X.2    Fredericksen, Z.S.3    McGuffog, L.4    Tarrell, R.5
  • 9
    • 36749002743 scopus 로고    scopus 로고
    • RAD51 135G→C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
    • Antoniou AC, Sinilnikova OM, Simard J, Leone M, Dumont M, et al. (2007) RAD51 135G→C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 81: 1186-1200.
    • (2007) Am J Hum Genet , vol.81 , pp. 1186-1200
    • Antoniou, A.C.1    Sinilnikova, O.M.2    Simard, J.3    Leone, M.4    Dumont, M.5
  • 13
    • 17244373777 scopus 로고    scopus 로고
    • Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy
    • Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, et al. (2005) Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 434: 917-921.
    • (2005) Nature , vol.434 , pp. 917-921
    • Farmer, H.1    McCabe, N.2    Lord, C.J.3    Tutt, A.N.4    Johnson, D.A.5
  • 14
    • 79954440124 scopus 로고    scopus 로고
    • Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2
    • Osorio A, Milne RL, Alonso R, Pita G, Peterlongo P, et al. (2011) Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2. Br J Cancer 104: 1356-1361.
    • (2011) Br J Cancer , vol.104 , pp. 1356-1361
    • Osorio, A.1    Milne, R.L.2    Alonso, R.3    Pita, G.4    Peterlongo, P.5
  • 16
    • 77953986642 scopus 로고    scopus 로고
    • Incorporating indocyanin green clearance into the Model for End Stage Liver Disease (MELD-ICG) improves prognostic accuracy in intermediate to advanced cirrhosis
    • Zipprich A, Kuss O, Rogowski S, Kleber G, Lotterer E, et al. (2010) Incorporating indocyanin green clearance into the Model for End Stage Liver Disease (MELD-ICG) improves prognostic accuracy in intermediate to advanced cirrhosis. Gut 59: 963-968.
    • (2010) Gut , vol.59 , pp. 963-968
    • Zipprich, A.1    Kuss, O.2    Rogowski, S.3    Kleber, G.4    Lotterer, E.5
  • 17
    • 84868198798 scopus 로고    scopus 로고
    • Germline variants of base excision repair genes and breast cancer: A polymorphism in DNA polymerase gamma modifies gene expression and breast cancer risk
    • Popanda O, Seibold P, Nikolov I, Oakes CC, Burwinkel B, et al. (2013) Germline variants of base excision repair genes and breast cancer: A polymorphism in DNA polymerase gamma modifies gene expression and breast cancer risk. Int J Cancer 132: 55-62.
    • (2013) Int J Cancer , vol.132 , pp. 55-62
    • Popanda, O.1    Seibold, P.2    Nikolov, I.3    Oakes, C.C.4    Burwinkel, B.5
  • 18
    • 79961186635 scopus 로고    scopus 로고
    • Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study
    • Roberts MR, Shields PG, Ambrosone CB, Nie J, Marian C, et al. (2011) Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study. Carcinogenesis 32: 1223-1230.
    • (2011) Carcinogenesis , vol.32 , pp. 1223-1230
    • Roberts, M.R.1    Shields, P.G.2    Ambrosone, C.B.3    Nie, J.4    Marian, C.5
  • 19
  • 20
    • 77149176248 scopus 로고    scopus 로고
    • Synergistic effects of polymorphisms in DNA repair genes and endogenous estrogen exposure on female breast cancer risk
    • Ming-Shiean H, Yu JC, Wang HW, Chen ST, Hsiung CN, et al. (2010) Synergistic effects of polymorphisms in DNA repair genes and endogenous estrogen exposure on female breast cancer risk. Ann Surg Oncol 17: 760-771.
    • (2010) Ann Surg Oncol , vol.17 , pp. 760-771
    • Ming-Shiean, H.1    Yu, J.C.2    Wang, H.W.3    Chen, S.T.4    Hsiung, C.N.5
  • 21
    • 77956593304 scopus 로고    scopus 로고
    • XRCC1 polymorphisms and breast cancer risk from the New York Site of the Breast Cancer Family Registry: A family-based case-control study
    • Zipprich J, Terry MB, Brandt-Rauf P, Freyer GA, Liao Y, et al. (2010) XRCC1 polymorphisms and breast cancer risk from the New York Site of the Breast Cancer Family Registry: A family-based case-control study. J Carcinog 9: 4.
    • (2010) J Carcinog , vol.9 , pp. 4
    • Zipprich, J.1    Terry, M.B.2    Brandt-Rauf, P.3    Freyer, G.A.4    Liao, Y.5
  • 22
    • 79953176665 scopus 로고    scopus 로고
    • Preferential repair of oxidized base damage in the transcribed genes of mammalian cells
    • Banerjee D, Mandal SM, Das A, Hegde ML, Das S, et al. (2011) Preferential repair of oxidized base damage in the transcribed genes of mammalian cells. J Biol Chem 286: 6006-6016.
    • (2011) J Biol Chem , vol.286 , pp. 6006-6016
    • Banerjee, D.1    Mandal, S.M.2    Das, A.3    Hegde, M.L.4    Das, S.5
  • 23
    • 84862192819 scopus 로고    scopus 로고
    • Association of polymorphisms in oxidative stress genes with clinical outcomes for bladder cancer treated with Bacillus Calmette-Guerin
    • Wei H, Kamat A, Chen M, Ke HL, Chang DW, et al. (2012) Association of polymorphisms in oxidative stress genes with clinical outcomes for bladder cancer treated with Bacillus Calmette-Guerin. PLoS One 7: e38533.
    • (2012) PLoS One , vol.7
    • Wei, H.1    Kamat, A.2    Chen, M.3    Ke, H.L.4    Chang, D.W.5
  • 24
    • 77749333494 scopus 로고    scopus 로고
    • Regulatory regions responsive to oxidative stress in the promoter of the human DNA glycosylase gene NEIL2
    • Kinslow CJ, El-Zein RA, Rondelli CM, Hill CE, Wickliffe JK, et al. (2010) Regulatory regions responsive to oxidative stress in the promoter of the human DNA glycosylase gene NEIL2. Mutagenesis 25: 171-177.
    • (2010) Mutagenesis , vol.25 , pp. 171-177
    • Kinslow, C.J.1    El-Zein, R.A.2    Rondelli, C.M.3    Hill, C.E.4    Wickliffe, J.K.5
  • 25
    • 52249101728 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms 5′ upstream the coding region of the NEIL2 gene influence gene transcription levels and alter levels of genetic damage
    • Kinslow CJ, El-Zein RA, Hill CE, Wickliffe JK, Abdel-Rahman SZ, (2008) Single nucleotide polymorphisms 5′ upstream the coding region of the NEIL2 gene influence gene transcription levels and alter levels of genetic damage. Genes Chromosomes Cancer 47: 923-932.
    • (2008) Genes Chromosomes Cancer , vol.47 , pp. 923-932
    • Kinslow, C.J.1    El-Zein, R.A.2    Hill, C.E.3    Wickliffe, J.K.4    Abdel-Rahman, S.Z.5
  • 26
    • 84861479075 scopus 로고    scopus 로고
    • Increased risk of lung cancer associated with a functionally impaired polymorphic variant of the human DNA glycosylase NEIL2
    • Dey S, Maiti AK, Hegde ML, Hegde PM, Boldogh I, et al. (2012) Increased risk of lung cancer associated with a functionally impaired polymorphic variant of the human DNA glycosylase NEIL2. DNA Repair (Amst) 11: 570-578.
    • (2012) DNA Repair (Amst) , vol.11 , pp. 570-578
    • Dey, S.1    Maiti, A.K.2    Hegde, M.L.3    Hegde, P.M.4    Boldogh, I.5
  • 27
    • 48249153852 scopus 로고    scopus 로고
    • Functional variants of the NEIL1 and NEIL2 genes and risk and progression of squamous cell carcinoma of the oral cavity and oropharynx
    • Zhai X, Zhao H, Liu Z, Wang LE, El-Naggar AK, et al. (2008) Functional variants of the NEIL1 and NEIL2 genes and risk and progression of squamous cell carcinoma of the oral cavity and oropharynx. Clin Cancer Res 14: 4345-4352.
    • (2008) Clin Cancer Res , vol.14 , pp. 4345-4352
    • Zhai, X.1    Zhao, H.2    Liu, Z.3    Wang, L.E.4    El-Naggar, A.K.5
  • 28
    • 33644659346 scopus 로고    scopus 로고
    • OGG1 Cys326 variant, allelic imbalance of chromosome band 3p25.3 and TP53 mutations in ovarian cancer
    • Arcand SL, Provencher D, Mes-Masson AM, Tonin PN, (2005) OGG1 Cys326 variant, allelic imbalance of chromosome band 3p25.3 and TP53 mutations in ovarian cancer. Int J Oncol 27: 1315-1320.
    • (2005) Int J Oncol , vol.27 , pp. 1315-1320
    • Arcand, S.L.1    Provencher, D.2    Mes-Masson, A.M.3    Tonin, P.N.4
  • 30
    • 84875392806 scopus 로고    scopus 로고
    • Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lung cancer risk: a meta-analysis
    • Wei W, He XF, Qin JB, Su J, Li SX, et al. (2012) Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lung cancer risk: a meta-analysis. Mol Biol Rep 39: 11249-11262.
    • (2012) Mol Biol Rep , vol.39 , pp. 11249-11262
    • Wei, W.1    He, X.F.2    Qin, J.B.3    Su, J.4    Li, S.X.5
  • 31
    • 41949100227 scopus 로고    scopus 로고
    • Cells deficient in oxidative DNA damage repair genes Myh and Ogg1 are sensitive to oxidants with increased G2/M arrest and multinucleation
    • Xie Y, Yang H, Miller JH, Shih DM, Hicks GG, et al. (2008) Cells deficient in oxidative DNA damage repair genes Myh and Ogg1 are sensitive to oxidants with increased G2/M arrest and multinucleation. Carcinogenesis 29: 722-728.
    • (2008) Carcinogenesis , vol.29 , pp. 722-728
    • Xie, Y.1    Yang, H.2    Miller, J.H.3    Shih, D.M.4    Hicks, G.G.5
  • 32
    • 84875741884 scopus 로고    scopus 로고
    • Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
    • Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, et al. (2013) Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk. PLoS Genet 9: e1003212.
    • (2013) PLoS Genet , vol.9
    • Couch, F.J.1    Wang, X.2    McGuffog, L.3    Lee, A.4    Olswold, C.5
  • 33
    • 53149103171 scopus 로고    scopus 로고
    • The rate of base excision repair of uracil is controlled by the initiating glycosylase
    • Visnes T, Akbari M, Hagen L, Slupphaug G, Krokan HE, (2008) The rate of base excision repair of uracil is controlled by the initiating glycosylase. DNA Repair (Amst) 7: 1869-1881.
    • (2008) DNA Repair (Amst) , vol.7 , pp. 1869-1881
    • Visnes, T.1    Akbari, M.2    Hagen, L.3    Slupphaug, G.4    Krokan, H.E.5
  • 34
    • 21344437509 scopus 로고    scopus 로고
    • A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes
    • Antoniou AC, Goldgar DE, Andrieu N, Chang-Claude J, Brohet R, et al. (2005) A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet Epidemiol 29: 1-11.
    • (2005) Genet Epidemiol , vol.29 , pp. 1-11
    • Antoniou, A.C.1    Goldgar, D.E.2    Andrieu, N.3    Chang-Claude, J.4    Brohet, R.5
  • 35
    • 84875733563 scopus 로고    scopus 로고
    • Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk
    • Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, et al. (2013) Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk. PLoS Genet 9: e1003173.
    • (2013) PLoS Genet , vol.9
    • Gaudet, M.M.1    Kuchenbaecker, K.B.2    Vijai, J.3    Klein, R.J.4    Kirchhoff, T.5
  • 36
    • 84862014600 scopus 로고    scopus 로고
    • Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations
    • Barnes DR, Lee A, Easton DF, Antoniou AC, (2012) Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations. Genet Epidemiol 36: 274-291.
    • (2012) Genet Epidemiol , vol.36 , pp. 274-291
    • Barnes, D.R.1    Lee, A.2    Easton, D.F.3    Antoniou, A.C.4
  • 37
    • 84858814526 scopus 로고    scopus 로고
    • Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers
    • Barnes DR, Antoniou AC, (2012) Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers. J Intern Med 271: 331-343.
    • (2012) J Intern Med , vol.271 , pp. 331-343
    • Barnes, D.R.1    Antoniou, A.C.2
  • 38
    • 44249112333 scopus 로고    scopus 로고
    • A genomic background based method for association analysis in related individuals
    • Amin N, van Duijn CM, Aulchenko YS, (2007) A genomic background based method for association analysis in related individuals. PLoS One 2: e1274.
    • (2007) PLoS One , vol.2
    • Amin, N.1    van Duijn, C.M.2    Aulchenko, Y.S.3
  • 39
    • 0042888663 scopus 로고    scopus 로고
    • Estimation of the inbreeding coefficient through use of genomic data
    • Leutenegger AL, Prum B, Genin E, Verny C, Lemainque A, et al. (2003) Estimation of the inbreeding coefficient through use of genomic data. Am J Hum Genet 73: 516-523.
    • (2003) Am J Hum Genet , vol.73 , pp. 516-523
    • Leutenegger, A.L.1    Prum, B.2    Genin, E.3    Verny, C.4    Lemainque, A.5
  • 41
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • Howie BN, Donnelly P, Marchini J, (2009) A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 5: e1000529.
    • (2009) PLoS Genet , vol.5
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 42
    • 77956586071 scopus 로고    scopus 로고
    • LocusZoom: regional visualization of genome-wide association scan results
    • Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, et al. (2010) LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26: 2336-2337.
    • (2010) Bioinformatics , vol.26 , pp. 2336-2337
    • Pruim, R.J.1    Welch, R.P.2    Sanna, S.3    Teslovich, T.M.4    Chines, P.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.