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Volumn 103, Issue 2, 2011, Pages 105-116

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

(153)  Ramus, Susan J a   Kartsonaki, Christiana b   Gayther, Simon A a   Pharoah, Paul D P c   Sinilnikova, Olga M d   Beesley, Jonathan e   Chen, Xiaoqing e   McGuffog, Lesley b   Healey, Sue e   Couch, Fergus J f   Wang, Xianshu f   Fredericksen, Zachary g   Peterlongo, Paolo h   Manoukian, Siranoush h   Peissel, Bernard h   Zaffaroni, Daniela h   Roversi, Gaia h   Barile, Monica i   Viel, Alessandra h   Allavena, Anna j   more..


Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 79251507591     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/djq494     Document Type: Article
Times cited : (38)

References (43)
  • 2
    • 0006713602 scopus 로고
    • Identifcation of the breast cancer susceptibility gene BRCA2
    • Wooster R, Bignell G, Lancaster J, et al. Identifcation of the breast cancer susceptibility gene BRCA2. Nature. 1995;378(6559):789-792.
    • (1995) Nature , vol.378 , Issue.6559 , pp. 789-792
    • Wooster, R.1    Bignell, G.2    Lancaster, J.3
  • 3
    • 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, et al. 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. 2003;72(5):1117-1130.
    • (2003) Am J Hum Genet , vol.72 , Issue.5 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.2    Narod, S.3
  • 4
    • 42149193041 scopus 로고    scopus 로고
    • The BOADICEA model of genetic susceptibility to breast and ovarian cancers: Updates and extensions
    • Antoniou AC, Cunningham AP, Peto J, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 2008;98(8):1457-1466.
    • (2008) Br J Cancer , vol.98 , Issue.8 , pp. 1457-1466
    • Antoniou, A.C.1    Cunningham, A.P.2    Peto, J.3
  • 5
    • 38049171118 scopus 로고    scopus 로고
    • Variation of breast cancer risk among BRCA1/2 carriers
    • Begg CB, Haile RW, Borg A, et al. Variation of breast cancer risk among BRCA1/2 carriers. JAMA. 2008;299(2):194-201.
    • (2008) JAMA , vol.299 , Issue.2 , pp. 194-201
    • Begg, C.B.1    Haile, R.W.2    Borg, A.3
  • 6
    • 33644895048 scopus 로고    scopus 로고
    • Characterization of BRCA1 and BRCA2 mutations in a large United States sample
    • Chen S, Iversen ES, Friebel T, et al. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol. 2006; 24(6):863-871.
    • (2006) J Clin Oncol , vol.24 , Issue.6 , pp. 863-871
    • Chen, S.1    Iversen, E.S.2    Friebel, T.3
  • 7
    • 17344365851 scopus 로고    scopus 로고
    • Genetic heterogeneity and pene-trance analysis of the BRCA1 and BRCA2 genes in breast cancer families
    • The Breast Cancer Linkage Consortium
    • Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and pene-trance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998;62(3): 676-689.
    • (1998) Am J Hum Genet , vol.62 , Issue.3 , pp. 676-689
    • Ford, D.1    Easton, D.F.2    Stratton, M.3
  • 8
    • 0032826284 scopus 로고    scopus 로고
    • Population-based estimate of the average age-specifc cumulative risk of breast cancer for a defned set of protein-truncating mutations in BRCA1 and BRCA
    • Australian Breast Cancer Family Study
    • Hopper JL, Southey MC, Dite GS, et al. Population-based estimate of the average age-specifc cumulative risk of breast cancer for a defned set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev. 1999;8(9):741-747.
    • (1999) Cancer Epidemiol Biomarkers Prev , vol.8 , Issue.9 , pp. 741-747
    • Hopper, J.L.1    Southey, M.C.2    Dite, G.S.3
  • 9
    • 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, et al. 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. 2008; 14(9):2861-2869.
    • (2008) Clin Cancer Res , vol.14 , Issue.9 , pp. 2861-2869
    • Milne, R.L.1    Osorio, A.2    Cajal, T.R.3
  • 10
    • 33644865633 scopus 로고    scopus 로고
    • Familial clustering of site-specifc cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population
    • Simchoni S, Friedman E, Kaufman B, et al. Familial clustering of site-specifc cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci USA. 2006;103(10): 3770-3774.
    • (2006) Proc Natl Acad Sci USA , vol.103 , Issue.10 , pp. 3770-3774
    • Simchoni, S.1    Friedman, E.2    Kaufman, B.3
  • 11
    • 0030910022 scopus 로고    scopus 로고
    • The risk of cancer associated with specifc mutations of BRCA1 and BRCA2 among Ashkenazi Jews
    • Struewing JP, Hartge P, Wacholder S. The risk of cancer associated with specifc mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997;336(20):1401-1408.
    • (1997) N Engl J Med , vol.336 , Issue.20 , pp. 1401-1408
    • Struewing, J.P.1    Hartge, P.2    Wacholder, S.3
  • 12
    • 0035125062 scopus 로고    scopus 로고
    • Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers
    • Thompson D, Easton D; Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet. 2001;68(2):410-419.
    • (2001) Am J Hum Genet , vol.68 , Issue.2 , pp. 410-419
    • Thompson, D.1    Easton, D.2
  • 13
    • 0036123926 scopus 로고    scopus 로고
    • Variation in BRCA1 cancer risks by mutation position
    • Thompson D, Easton D; Breast Cancer Linkage Consortium. Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev. 2002;11(4):329-336. (Pubitemid 34408211)
    • (2002) Cancer Epidemiology Biomarkers and Prevention , vol.11 , Issue.4 , pp. 329-336
    • Thompson, D.1    Easton, D.2
  • 14
    • 0028844202 scopus 로고
    • Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation
    • Gayther SA, Warren W, Mazoyer S, et al. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet. 1995;11(4):428-433.
    • (1995) Nat Genet , vol.11 , Issue.4 , pp. 428-433
    • Gayther, S.A.1    Warren, W.2    Mazoyer, S.3
  • 15
    • 0031012305 scopus 로고    scopus 로고
    • Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene
    • Gayther SA, Mangion J, Russell P, et al. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet. 1997;15(1):103-105.
    • (1997) Nat Genet , vol.15 , Issue.1 , pp. 103-105
    • Gayther, S.A.1    Mangion, J.2    Russell, P.3
  • 16
    • 3142730982 scopus 로고    scopus 로고
    • Cancer variation associated with the position of the mutation in the BRCA2 gene
    • Lubinski J, Phelan CM, Ghadirian P, et al. Cancer variation associated with the position of the mutation in the BRCA2 gene. Fam Cancer. 2004;3(1):1-10.
    • (2004) Fam Cancer , vol.3 , Issue.1 , pp. 1-10
    • Lubinski, J.1    Phelan, C.M.2    Ghadirian, P.3
  • 17
    • 58149357365 scopus 로고    scopus 로고
    • Genome-wide association studies in cancer
    • Easton DF, Eeles RA. Genome-wide association studies in cancer. Hum Mol Genet. 2008;17(R2):R109-R115.
    • (2008) Hum Mol Genet , vol.17 , Issue.R2
    • Easton, D.F.1    Eeles, R.A.2
  • 18
    • 58149335215 scopus 로고    scopus 로고
    • Genome-wide association studies: Past, present and future
    • McCarthy MI, Hirschhorn JN. Genome-wide association studies: past, present and future. Hum Mol Genet. 2008;17(R2):R100-R101.
    • (2008) Hum Mol Genet , vol.17 , Issue.R2
    • McCarthy, M.I.1    Hirschhorn, J.N.2
  • 19
    • 69349102630 scopus 로고    scopus 로고
    • A genome-wide association study iden-tifes a new ovarian cancer susceptibility locus on 9p22.2
    • Song H, Ramus SJ, Tyrer J, et al. A genome-wide association study iden-tifes a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet. 2009;41(9):996-1000.
    • (2009) Nat Genet , vol.41 , Issue.9 , pp. 996-1000
    • Song, H.1    Ramus, S.J.2    Tyrer, J.3
  • 20
    • 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, et al. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet. 2008;82(4):937-948.
    • (2008) Am J Hum Genet , vol.82 , Issue.4 , pp. 937-948
    • Antoniou, A.C.1    Spurdle, A.B.2    Sinilnikova, O.M.3
  • 21
    • 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, et al. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2009;18(22):4442-4456.
    • (2009) Hum Mol Genet , vol.18 , Issue.22 , pp. 4442-4456
    • Antoniou, A.C.1    Sinilnikova, O.M.2    McGuffog, L.3
  • 22
    • 77953121528 scopus 로고    scopus 로고
    • The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: Results from a multicenter study among 15542 BRCA1 and BRCA2 mutation carriers [published online ahead of print October 30, 2009]
    • Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Lubinski J. The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: results from a multicenter study among 15,542 BRCA1 and BRCA2 mutation carriers [published online ahead of print October 30, 2009]. Breast Cancer Res Treat. 2009;121(3):639-649.
    • (2009) Breast Cancer Res Treat , vol.121 , Issue.3 , pp. 639-649
    • Jakubowska, A.1    Rozkrut, D.2    Antoniou, A.3    Hamann, U.4    Lubinski, J.5
  • 23
    • 67651000083 scopus 로고    scopus 로고
    • Modifcation of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers
    • Rebbeck TR, Mitra N, Domchek SM, et al. Modifcation of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers. Cancer Res. 2009;69(14):5801-5810.
    • (2009) Cancer Res , vol.69 , Issue.14 , pp. 5801-5810
    • Rebbeck, T.R.1    Mitra, N.2    Domchek, S.M.3
  • 24
    • 34250164598 scopus 로고    scopus 로고
    • An international initiative to identify genetic modifers of cancer risk in BRCA1 and BRCA2 mutation carriers: The Consortium of Investigators of Modifers of BRCA1 and BRCA2 (CIMBA)
    • Chenevix-Trench G, Milne RL, Antoniou AC, et al. An international initiative to identify genetic modifers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res. 2007;9(2):104.
    • (2007) Breast Cancer Res , vol.9 , Issue.2 , pp. 104
    • Chenevix-Trench, G.1    Milne, R.L.2    Antoniou, A.C.3
  • 25
    • 36749002743 scopus 로고    scopus 로고
    • RAD51 135G->C modifes breast cancer risk among BRCA2 mutation carriers: Results from a combined analysis of 19 studies
    • Antoniou AC, Sinilnikova OM, Simard J, et al. RAD51 135G->C modifes breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet. 2007;81(6):1186-1200.
    • (2007) Am J Hum Genet , vol.81 , Issue.6 , pp. 1186-1200
    • Antoniou, A.C.1    Sinilnikova, O.M.2    Simard, J.3
  • 26
    • 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, et al. A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet Epidemiol. 2005;29(1):1-11.
    • (2005) Genet Epidemiol , vol.29 , Issue.1 , pp. 1-11
    • Antoniou, A.C.1    De, G.2    Andrieu, N.3
  • 27
    • 0024190141 scopus 로고
    • Programs for pedigree analysis: MENDEL FISHER and dGENE
    • Lange K, Weeks D, Boehnke M. Programs for pedigree analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol. 1988;5(6):471-472.
    • (1988) Genet Epidemiol , vol.5 , Issue.6 , pp. 471-472
    • Lange, K.1    Weeks, D.2    Boehnke, M.3
  • 28
    • 0000250624 scopus 로고
    • The behavior of maximum likelihood estimates under non-standard conditions
    • Huber PJ. The behavior of maximum likelihood estimates under non-standard conditions. Proc Fifth Berkeley Symp Math Stat Probab. 1967;1: 221-233.
    • (1967) Proc Fifth Berkeley Symp Math Stat Probab , vol.1 , pp. 221-233
    • Huber, P.J.1
  • 29
    • 34250006413 scopus 로고    scopus 로고
    • Genome-wide association study identifes novel breast cancer susceptibility loci
    • Easton DF, Pooley KA, Dunning AM, et al. Genome-wide association study identifes novel breast cancer susceptibility loci. Nature. 2007; 447(7148):1087-1093.
    • (2007) Nature , vol.447 , Issue.7148 , pp. 1087-1093
    • Easton, D.F.1    Pooley, K.A.2    Dunning, A.M.3
  • 30
    • 34250001297 scopus 로고    scopus 로고
    • A genome-wide association study identifes alleles in FGFR2 associated with risk of sporadic postmeno-pausal breast cancer
    • Hunter DJ, Kraft P, Jacobs KB, et al. A genome-wide association study identifes alleles in FGFR2 associated with risk of sporadic postmeno-pausal breast cancer. Nat Genet. 2007;39(7):870-874.
    • (2007) Nat Genet , vol.39 , Issue.7 , pp. 870-874
    • Hunter, D.J.1    Kraft, P.2    Jacobs, K.B.3
  • 31
    • 41949142377 scopus 로고    scopus 로고
    • Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33
    • Gold B, Kirchhoff T, Stefanov S, et al. Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc Natl Acad Sci USA. 2008;105(11):4340-4345.
    • (2008) Proc Natl Acad Sci USA , vol.105 , Issue.11 , pp. 4340-4345
    • Gold, B.1    Kirchhoff, T.2    Stefanov, S.3
  • 32
    • 67349237973 scopus 로고    scopus 로고
    • Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
    • Ahmed S, Thomas G, Ghoussaini M, et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet. 2009;41(5):585-590.
    • (2009) Nat Genet , vol.41 , Issue.5 , pp. 585-590
    • Ahmed, S.1    Thomas, G.2    Ghoussaini, M.3
  • 33
    • 67349158067 scopus 로고    scopus 로고
    • A multistage genome-wide association study in breast cancer identifes two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)
    • Thomas G, Jacobs KB, Kraft P, et al. A multistage genome-wide association study in breast cancer identifes two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet. 2009;41(5):579-584.
    • (2009) Nat Genet , vol.41 , Issue.5 , pp. 579-584
    • Thomas, G.1    Jacobs, K.B.2    Kraft, P.3
  • 34
    • 77952887426 scopus 로고    scopus 로고
    • Genome-wide association study identifes fve new breast cancer susceptibility loci
    • Turnbull C, Ahmed S, Morrison J, et al. Genome-wide association study identifes fve new breast cancer susceptibility loci. Nat Genet. 2010;42(6): 504-507.
    • (2010) Nat Genet , vol.42 , Issue.6 , pp. 504-507
    • Turnbull, C.1    Ahmed, S.2    Morrison, J.3
  • 35
    • 1542409004 scopus 로고    scopus 로고
    • Basonuclin 2: An extremely conserved ho-molog of the zinc fnger protein basonuclin
    • Vanhoutteghem A, Djian P. Basonuclin 2: an extremely conserved ho-molog of the zinc fnger protein basonuclin. Proc Natl Acad Sci USA. 2004;101(10):3468-3473.
    • (2004) Proc Natl Acad Sci USA , vol.101 , Issue.10 , pp. 3468-3473
    • Vanhoutteghem, A.1    Djian, P.2
  • 36
    • 33747609845 scopus 로고    scopus 로고
    • Basonuclins 1 and 2, whose genes share a common origin, are proteins with widely different properties and functions
    • Vanhoutteghem A, Djian P. Basonuclins 1 and 2, whose genes share a common origin, are proteins with widely different properties and functions. Proc Natl Acad Sci USA. 2006;103(33):12423-12428.
    • (2006) Proc Natl Acad Sci USA , vol.103 , Issue.33 , pp. 12423-12428
    • Vanhoutteghem, A.1    Djian, P.2
  • 37
    • 33845189397 scopus 로고    scopus 로고
    • The human basonuclin 2 gene has the potential to generate nearly 90000 mRNA isoforms encoding over 2000 different proteins
    • Vanhoutteghem A, Djian P. The human basonuclin 2 gene has the potential to generate nearly 90,000 mRNA isoforms encoding over 2000 different proteins. Genomics. 2007;89(1):44-58.
    • (2007) Genomics. , vol.89 , Issue.1 , pp. 44-58
    • Vanhoutteghem, A.1    Djian, P.2
  • 38
    • 70349864986 scopus 로고    scopus 로고
    • Chromosomal abnormalities and novel disease-related regions in progression from Barrett's esophagus to esoph-ageal adenocarcinoma
    • Akagi T, Ito T, Kato M, et al. Chromosomal abnormalities and novel disease-related regions in progression from Barrett's esophagus to esoph-ageal adenocarcinoma. Int J Cancer. 2009;125(10):2349-2359.
    • (2009) Int J Cancer , vol.125 , Issue.10 , pp. 2349-2359
    • Akagi, T.1    Ito, T.2    Kato, M.3
  • 39
    • 1842665168 scopus 로고    scopus 로고
    • Identifcation of basonuclin2, a DNA-binding zinc-fnger protein expressed in germ tissues and skin kera-tinocytes
    • Romano RA, Li H, Tummala R, Maul R. Identifcation of basonuclin2, a DNA-binding zinc-fnger protein expressed in germ tissues and skin kera-tinocytes. Genomics. 2004;83(5):821-833.
    • (2004) Genomics , vol.83 , Issue.5 , pp. 821-833
    • Romano, R.A.1    Li, H.2    Tummala, R.3    Maul, R.4
  • 40
    • 77957571905 scopus 로고    scopus 로고
    • A genome-wide association study identifes susceptibility loci for ovarian cancer at 2q31 and 8q24
    • Goode EL, Chenevix-Trench G, Song H, et al. A genome-wide association study identifes susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet. 2010;42(10):874-879.
    • (2010) Nat Genet , vol.42 , Issue.10 , pp. 874-879
    • Goode, E.L.1    Chenevix-Trench, G.2    Song, H.3
  • 41
    • 77957584092 scopus 로고    scopus 로고
    • Common variants at 19p13 are associated with susceptibility to ovarian cancer
    • Bolton K, Tyrer J, Song H, et al. Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet. 2010;42(10):880-884.
    • (2010) Nat Genet , vol.42 , Issue.10 , pp. 880-884
    • Bolton, K.1    Tyrer, J.2    Song, H.3
  • 42
    • 30744445981 scopus 로고    scopus 로고
    • Hereditary breast and ovarian cancer: Review and future perspectives
    • Lux MP, Fasching PA, Beckmann MW. Hereditary breast and ovarian cancer: review and future perspectives. J Mol Med. 2006;84(1):16-28.
    • (2006) J Mol Med , vol.84 , Issue.1 , pp. 16-28
    • Lux, M.P.1    Fasching, P.A.2    Beckmann, M.W.3
  • 43
    • 68949119494 scopus 로고    scopus 로고
    • Uptake of risk-reducing surgery in unaffected women at high risk of breast and ovarian cancer is risk, age, and time dependent
    • Evans DG, Lalloo F, Ashcroft L, et al. Uptake of risk-reducing surgery in unaffected women at high risk of breast and ovarian cancer is risk, age, and time dependent. Cancer Epidemiol Biomarkers Prev. 2009;18(8):2318-2324.
    • (2009) Cancer Epidemiol Biomarkers Prev , vol.18 , Issue.8 , pp. 2318-2324
    • Evans, D.G.1    Lalloo, F.2    Ashcroft, L.3


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