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Volumn 161, Issue 1, 2017, Pages 117-134

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

(168)  Hamdi, Yosr a   Soucy, Penny a   Kuchenbaeker, Karoline B b,c   Pastinen, Tomi d   Droit, Arnaud a   Lemaçon, Audrey a   Adlard, Julian e   Aittomäki, Kristiina f   Andrulis, Irene L g,h   Arason, Adalgeir i,j   Arnold, Norbert k   Arun, Banu K l   Azzollini, Jacopo m   Bane, Anita n   Barjhoux, Laure o   Barrowdale, Daniel b   Benitez, Javier p,q   Berthet, Pascaline r   Blok, Marinus J s   Bobolis, Kristie t   more..


Author keywords

BRCA1 and BRCA2 mutation carriers; Breast cancer; Cis regulatory variants; Differential allelic expression; Genetic modifiers; Genetic susceptibility

Indexed keywords

ACAT1 GENE; ADULT; ARTICLE; ATM GENE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CHROMOSOME 11Q; COMPUTER MODEL; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; NPAT GENE; ONCOGENE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE; ALLELE; BREAST TUMOR; CHROMOSOME 11; GENETIC PREDISPOSITION; GENETIC VARIATION; MUTATION; RISK;

EID: 84992735226     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-016-4018-2     Document Type: Article
Times cited : (19)

References (36)
  • 1
    • 38049171118 scopus 로고    scopus 로고
    • Variation of breast cancer risk among BRCA1/2 carriers
    • COI: 1:CAS:528:DC%2BD1cXlslOrsg%3D%3D, PID: 18182601
    • Begg CB, Haile RW, Borg A, Malone KE, Concannon P, Thomas DC et al (2008) Variation of breast cancer risk among BRCA1/2 carriers. JAMA 299:194–201
    • (2008) JAMA , vol.299 , pp. 194-201
    • Begg, C.B.1    Haile, R.W.2    Borg, A.3    Malone, K.E.4    Concannon, P.5    Thomas, D.C.6
  • 2
    • 84878823452 scopus 로고    scopus 로고
    • Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE
    • COI: 1:CAS:528:DC%2BC3sXpsFCgtr4%3D, PID: 23628597
    • Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E et al (2013) Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst 105:812–822
    • (2013) J Natl Cancer Inst , vol.105 , pp. 812-822
    • Mavaddat, N.1    Peock, S.2    Frost, D.3    Ellis, S.4    Platte, R.5    Fineberg, E.6
  • 3
    • 34248170114 scopus 로고    scopus 로고
    • Meta-analysis of BRCA1 and BRCA2 penetrance
    • PID: 17416853
    • Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25:1329–1333
    • (2007) J Clin Oncol , vol.25 , pp. 1329-1333
    • Chen, S.1    Parmigiani, G.2
  • 4
    • 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
    • COI: 1:CAS:528:DC%2BD3sXjslagtbg%3D, PID: 12677558
    • Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL 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    Hopper, J.L.6
  • 5
    • 33644865633 scopus 로고    scopus 로고
    • Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population
    • COI: 1:CAS:528:DC%2BD28XivFWis7g%3D, PID: 16537453
    • Simchoni S, Friedman E, Kaufman B, Gershoni-Baruch R, Orr-Urtreger A, Kedar-Barnes I et al (2006) Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci USA 103:3770–3774
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 3770-3774
    • Simchoni, S.1    Friedman, E.2    Kaufman, B.3    Gershoni-Baruch, R.4    Orr-Urtreger, A.5    Kedar-Barnes, I.6
  • 6
    • 84927556016 scopus 로고    scopus 로고
    • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
    • COI: 1:CAS:528:DC%2BC2MXns1SntbY%3D, PID: 25849179
    • Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L et al (2015) Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA 313:1347–1361
    • (2015) JAMA , vol.313 , pp. 1347-1361
    • Rebbeck, T.R.1    Mitra, N.2    Wan, F.3    Sinilnikova, O.M.4    Healey, S.5    McGuffog, L.6
  • 7
    • 84905191955 scopus 로고    scopus 로고
    • Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis
    • PID: 24824314
    • Friebel TM, Domchek SM, Rebbeck TR (2014) Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis. J Natl Cancer Inst 106:dju091
    • (2014) J Natl Cancer Inst , vol.106 , pp. dju091
    • Friebel, T.M.1    Domchek, S.M.2    Rebbeck, T.R.3
  • 8
    • 84875733563 scopus 로고    scopus 로고
    • Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk
    • COI: 1:CAS:528:DC%2BC3sXlvValtLs%3D, PID: 23544012
    • Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L 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    McGuffog, L.6
  • 9
    • 84875741884 scopus 로고    scopus 로고
    • Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
    • COI: 1:CAS:528:DC%2BC3sXlvValtLg%3D, PID: 23544013
    • Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB 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    Kuchenbaecker, K.B.6
  • 10
    • 84858814526 scopus 로고    scopus 로고
    • Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers
    • COI: 1:CAS:528:DC%2BC38Xnt1ylsLo%3D, PID: 22443199
    • 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
  • 11
    • 79957604678 scopus 로고    scopus 로고
    • Principles for the post-GWAS functional characterization of cancer risk loci
    • COI: 1:CAS:528:DC%2BC3MXmsFyqtrk%3D, PID: 21614091
    • Freedman ML, Monteiro AN, Gayther SA, Coetzee GA, Risch A, Plass C et al (2011) Principles for the post-GWAS functional characterization of cancer risk loci. Nat Genet 43:513–518
    • (2011) Nat Genet , vol.43 , pp. 513-518
    • Freedman, M.L.1    Monteiro, A.N.2    Gayther, S.A.3    Coetzee, G.A.4    Risch, A.5    Plass, C.6
  • 12
    • 84865822182 scopus 로고    scopus 로고
    • Systematic localization of common disease-associated variation in regulatory DNA
    • COI: 1:CAS:528:DC%2BC38Xht1ylsLfL, PID: 22955828
    • Maurano MT, Humbert R, Rynes E, Thurman RE, Haugen E, Wang H et al (2012) Systematic localization of common disease-associated variation in regulatory DNA. Science 337:1190–1195
    • (2012) Science , vol.337 , pp. 1190-1195
    • Maurano, M.T.1    Humbert, R.2    Rynes, E.3    Thurman, R.E.4    Haugen, E.5    Wang, H.6
  • 13
    • 84964315018 scopus 로고    scopus 로고
    • Expression QTL-based analyses reveal candidate causal genes and loci across five tumor types
    • COI: 1:CAS:528:DC%2BC28XhtFOnt7bO, PID: 24907074
    • Li Q, Stram A, Chen C, Kar S, Gayther S, Pharoah P et al (2014) Expression QTL-based analyses reveal candidate causal genes and loci across five tumor types. Hum Mol Genet 23:5294–5302
    • (2014) Hum Mol Genet , vol.23 , pp. 5294-5302
    • Li, Q.1    Stram, A.2    Chen, C.3    Kar, S.4    Gayther, S.5    Pharoah, P.6
  • 14
    • 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)
    • PID: 17466083
    • Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, Goldgar DE 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 9:104–107
    • (2007) Breast Cancer Res , vol.9 , pp. 104-107
    • Chenevix-Trench, G.1    Milne, R.L.2    Antoniou, A.C.3    Couch, F.J.4    Easton, D.F.5    Goldgar, D.E.6
  • 15
    • 70350651269 scopus 로고    scopus 로고
    • Global patterns of cis variation in human cells revealed by high-density allelic expression analysis
    • COI: 1:CAS:528:DC%2BD1MXht1OgsrzK, PID: 19838192
    • Ge B, Pokholok DK, Kwan T, Grundberg E, Morcos L, Verlaan DJ et al (2009) Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet 41:1216–1222
    • (2009) Nat Genet , vol.41 , pp. 1216-1222
    • Ge, B.1    Pokholok, D.K.2    Kwan, T.3    Grundberg, E.4    Morcos, L.5    Verlaan, D.J.6
  • 16
    • 84910086797 scopus 로고    scopus 로고
    • Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs
    • PID: 25326100
    • Adoue V, Schiavi A, Light N, Almlöf JC, Lundmark P, Ge B et al (2014) Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs. Mol Syst Biol 10:754
    • (2014) Mol Syst Biol , vol.10 , pp. 754
    • Adoue, V.1    Schiavi, A.2    Light, N.3    Almlöf, J.C.4    Lundmark, P.5    Ge, B.6
  • 17
    • 84871601885 scopus 로고    scopus 로고
    • Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression
    • PID: 23300628
    • Almlöf JC, Lundmark P, Lundmark A, Ge B, Maouche S, Göring HH et al (2012) Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression. PLoS ONE 7:e52260
    • (2012) PLoS ONE , vol.7
    • Almlöf, J.C.1    Lundmark, P.2    Lundmark, A.3    Ge, B.4    Maouche, S.5    Göring, H.H.6
  • 18
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • PID: 19543373
    • 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
  • 19
    • 79851479498 scopus 로고    scopus 로고
    • Global analysis of the impact of environmental perturbation on cis-regulation of gene expression
    • COI: 1:CAS:528:DC%2BC3MXhtlyjsL4%3D, PID: 21283786
    • Grundberg E, Adoue V, Kwan T, Ge B, Duan QL, Lam KC et al (2011) Global analysis of the impact of environmental perturbation on cis-regulation of gene expression. PLoS Genet 7:e1001279
    • (2011) PLoS Genet , vol.7
    • Grundberg, E.1    Adoue, V.2    Kwan, T.3    Ge, B.4    Duan, Q.L.5    Lam, K.C.6
  • 20
    • 84862014600 scopus 로고    scopus 로고
    • Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations
    • PID: 22714938
    • Barnes DR, Lee A, EMBRACE Investigators, kConFab Investigators, 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
  • 21
    • 36749002743 scopus 로고    scopus 로고
    • RAD51 135G/C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
    • COI: 1:CAS:528:DC%2BD2sXhtl2ju77P, PID: 17999359
    • Antoniou AC, Sinilnikova OM, Simard J, Léoné M, Dumont M, Neuhausen SL 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    Léoné, M.4    Dumont, M.5    Neuhausen, S.L.6
  • 22
    • 80055117035 scopus 로고    scopus 로고
    • Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    • COI: 1:CAS:528:DC%2BC38XjslOlsL8%3D, PID: 22053997
    • Mulligan AM, Couch FJ, Barrowdale D, Domchek SM, Eccles D, Nevanlinna H et al (2011) Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res 13:R110
    • (2011) Breast Cancer Res , vol.13 , pp. R110
    • Mulligan, A.M.1    Couch, F.J.2    Barrowdale, D.3    Domchek, S.M.4    Eccles, D.5    Nevanlinna, H.6
  • 23
    • 84943191047 scopus 로고    scopus 로고
    • 4DGenome: a comprehensive database for chromatin interactions
    • COI: 1:CAS:528:DC%2BC28XhtlamsrnL, PID: 25788621
    • Teng L, He B, Tan K (2015) 4DGenome: a comprehensive database for chromatin interactions. Bioinformatics 31:2560–2564
    • (2015) Bioinformatics , vol.31 , pp. 2560-2564
    • Teng, L.1    He, B.2    Tan, K.3
  • 24
    • 84888015137 scopus 로고    scopus 로고
    • Super-enhancers in the control of cell identity and disease
    • COI: 1:CAS:528:DC%2BC3sXhs1SrtLbL, PID: 24119843
    • Hnisz D, Abraham BJ, Lee TI, Lau A, Saint-André V, Sigova AA et al (2013) Super-enhancers in the control of cell identity and disease. Cell 155:934–947
    • (2013) Cell , vol.155 , pp. 934-947
    • Hnisz, D.1    Abraham, B.J.2    Lee, T.I.3    Lau, A.4    Saint-André, V.5    Sigova, A.A.6
  • 25
    • 84901649822 scopus 로고    scopus 로고
    • Global view of enhancer–promoter interactome in human cells
    • COI: 1:CAS:528:DC%2BC2cXnsl2nt74%3D, PID: 24821768
    • He B, Chen C, Teng L, Tan K (2014) Global view of enhancer–promoter interactome in human cells. Proc Natl Acad Sci USA 111:E2191–E2199
    • (2014) Proc Natl Acad Sci USA , vol.111 , pp. E2191-E2199
    • He, B.1    Chen, C.2    Teng, L.3    Tan, K.4
  • 28
    • 34447324105 scopus 로고    scopus 로고
    • GenABEL: an R library for genome-wide association analysis
    • COI: 1:CAS:528:DC%2BD2sXntVOjurs%3D, PID: 17384015
    • Aulchenko YS, Ripke S, Isaacs A, Van Duijn CM (2007) GenABEL: an R library for genome-wide association analysis. Bioinformatics 23:1294–1296
    • (2007) Bioinformatics , vol.23 , pp. 1294-1296
    • Aulchenko, Y.S.1    Ripke, S.2    Isaacs, A.3    Van Duijn, C.M.4
  • 29
    • 0025602099 scopus 로고
    • Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency
    • COI: 1:CAS:528:DyaK3MXit1anu7k%3D, PID: 1979337
    • Fukao T, Yamaguchi S, Kano M, Orii T, Fujiki Y, Osumi T et al (1990) Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency. J Clin Investig 86:2086–2092
    • (1990) J Clin Investig , vol.86 , pp. 2086-2092
    • Fukao, T.1    Yamaguchi, S.2    Kano, M.3    Orii, T.4    Fujiki, Y.5    Osumi, T.6
  • 30
    • 0032520093 scopus 로고    scopus 로고
    • Expression of NPAT, a novel substrate of cyclin E-CDK2, promotes S-phase entry
    • COI: 1:CAS:528:DyaK1cXhtlShsb4%3D, PID: 9472014
    • Zhao J, Dynlacht B, Imai T, Hori T, Harlow E (1998) Expression of NPAT, a novel substrate of cyclin E-CDK2, promotes S-phase entry. Genes Dev 12:456–461
    • (1998) Genes Dev , vol.12 , pp. 456-461
    • Zhao, J.1    Dynlacht, B.2    Imai, T.3    Hori, T.4    Harlow, E.5
  • 31
    • 0034665757 scopus 로고    scopus 로고
    • NPAT links cyclin E-Cdk2 to the regulation of replication-dependent histone gene transcription
    • COI: 1:CAS:528:DC%2BD3cXntVSksrw%3D, PID: 10995386
    • Zhao J, Kennedy BK, Lawrence BD, Barbie DA, Matera AG, Fletcher JA et al (2000) NPAT links cyclin E-Cdk2 to the regulation of replication-dependent histone gene transcription. Genes Dev 14:2283–2297
    • (2000) Genes Dev , vol.14 , pp. 2283-2297
    • Zhao, J.1    Kennedy, B.K.2    Lawrence, B.D.3    Barbie, D.A.4    Matera, A.G.5    Fletcher, J.A.6
  • 32
    • 79960685230 scopus 로고    scopus 로고
    • Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma
    • COI: 1:CAS:528:DC%2BC3MXpslyhtbs%3D, PID: 21562039
    • Saarinen S, Aavikko M, Aittomäki K, Launonen V, Lehtonen R, Franssila K et al (2011) Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma. Blood 118:493–498
    • (2011) Blood , vol.118 , pp. 493-498
    • Saarinen, S.1    Aavikko, M.2    Aittomäki, K.3    Launonen, V.4    Lehtonen, R.5    Franssila, K.6
  • 33
    • 0029057336 scopus 로고
    • A single ataxia telangiectasia gene with a product similar to PI-3 kinase
    • COI: 1:CAS:528:DyaK2MXmsFCitrs%3D, PID: 7792600
    • Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L et al (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749–1753
    • (1995) Science , vol.268 , pp. 1749-1753
    • Savitsky, K.1    Bar-Shira, A.2    Gilad, S.3    Rotman, G.4    Ziv, Y.5    Vanagaite, L.6
  • 35
    • 75749141819 scopus 로고    scopus 로고
    • Variants in the ATM gene and breast cancer susceptibility
    • PID: 19348699
    • Milne RL (2009) Variants in the ATM gene and breast cancer susceptibility. Genome Med 1:12
    • (2009) Genome Med , vol.1 , pp. 12
    • Milne, R.L.1
  • 36
    • 80052225995 scopus 로고    scopus 로고
    • Modification of BRCA1-associated breast and ovarian cancer risk by BRCA1-interacting genes
    • COI: 1:CAS:528:DC%2BC3MXhtFSmtbvM, PID: 21799032
    • Rebbeck TR, Mitra N, Domchek SM, Wan F, Friebel TM, Tran TV et al (2011) Modification of BRCA1-associated breast and ovarian cancer risk by BRCA1-interacting genes. Cancer Res 71:5792–5805
    • (2011) Cancer Res , vol.71 , pp. 5792-5805
    • Rebbeck, T.R.1    Mitra, N.2    Domchek, S.M.3    Wan, F.4    Friebel, T.M.5    Tran, T.V.6


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