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Volumn 447, Issue 7148, 2007, Pages 1087-1093

Genome-wide association study identifies novel breast cancer susceptibility loci

(215)  Easton, Douglas F a   Pooley, Karen A b   Dunning, Alison M b   Pharoah, Paul D P b   Thompson, Deborah a   Ballinger, Dennis G c   Struewing, Jeffery P d   Morrison, Jonathan b   Field, Helen b   Luben, Robert a   Wareham, Nicholas a   Ahmed, Shahana b   Healey, Catherine S b   Bowman, Richard e   Meyer, Kerstin B f   Haiman, Christopher A g   Kolonel, Laurence K h   Henderson, Brian E g   Le Marchand, Loic h   Brennan, Paul i   more..


Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; LYMPHOCYTE SPECIFIC PROTEIN 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE KINASE 1; PROTEIN; PROTEIN TNRC9; UNCLASSIFIED DRUG;

EID: 34250006413     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature05887     Document Type: Article
Times cited : (1960)

References (39)
  • 1
    • 0035960431 scopus 로고    scopus 로고
    • Familial breast cancer: Collaborative reanalysis of individual data from 52 epidemiological studies including 58 209 women with breast cancer and 101 986 women without the disease
    • Collaborative Group on Hormonal Factors in Breast Cancer
    • Collaborative Group on Hormonal Factors in Breast Cancer. Familial breast cancer: Collaborative reanalysis of individual data from 52 epidemiological studies including 58 209 women with breast cancer and 101 986 women without the disease. Lancet 358, 1389-1399 (2001).
    • (2001) Lancet , vol.358 , pp. 1389-1399
  • 2
    • 0028113345 scopus 로고
    • A strong candidate for the breast and ovarian-cancer susceptibility gene BRCA1
    • Miki, Y. et al. A strong candidate for the breast and ovarian-cancer susceptibility gene BRCA1. Science 266, 66-71 (1994).
    • (1994) Science , vol.266 , pp. 66-71
    • Miki, Y.1
  • 3
    • 0006713602 scopus 로고
    • Identification of the breast cancer susceptibility gene BRCA2
    • Wooster, R. et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 378, 789-792 (1995).
    • (1995) Nature , vol.378 , pp. 789-792
    • Wooster, R.1
  • 4
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with mutations in BRCA1 or BRCA2 detected in case series unselected for family history: A combined analysis of 22 studies
    • Antoniou, A. et al. Average risks of breast and ovarian cancer associated with mutations in BRCA1 or BRCA2 detected in case series unselected for family history: A combined analysis of 22 studies. Am. J. Hum. Genet. 72, 1117-1130 (2003).
    • (2003) Am. J. Hum. Genet , vol.72 , pp. 1117-1130
    • Antoniou, A.1
  • 5
    • 33646570913 scopus 로고    scopus 로고
    • A genome wide linkage search for breast cancer susceptibility genes
    • Smith, P. et al. A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosom. Cancer 45, 646-655 (2006).
    • (2006) Genes Chromosom. Cancer , vol.45 , pp. 646-655
    • Smith, P.1
  • 6
    • 0036578764 scopus 로고    scopus 로고
    • Polygenic susceptibility to breast cancer and implications for prevention
    • Pharoah, P. D. P. et al. Polygenic susceptibility to breast cancer and implications for prevention. Nature Genet. 31, 33-36 (2002).
    • (2002) Nature Genet , vol.31 , pp. 33-36
    • Pharoah, P.D.P.1
  • 7
    • 7944237307 scopus 로고    scopus 로고
    • The BOADICEA model of genetic susceptibility to breast and ovarian cancer
    • Antoniou, A. C., Pharoah, P. D. P., Smith, P. & Easton, D. F. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br. J. Cancer 91, 1580-1590 (2004).
    • (2004) Br. J. Cancer , vol.91 , pp. 1580-1590
    • Antoniou, A.C.1    Pharoah, P.D.P.2    Smith, P.3    Easton, D.F.4
  • 8
    • 33846625493 scopus 로고    scopus 로고
    • PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
    • Rahman, N. et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nature Genet. 39, 165-167 (2007).
    • (2007) Nature Genet , vol.39 , pp. 165-167
    • Rahman, N.1
  • 9
    • 20544474516 scopus 로고    scopus 로고
    • Cancer risks and mortality in heterozygous ATM mutation carriers
    • Thompson, D. et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J. Natl Cancer Inst. 97, 813-822 (2005).
    • (2005) J. Natl Cancer Inst , vol.97 , pp. 813-822
    • Thompson, D.1
  • 10
    • 18544389716 scopus 로고    scopus 로고
    • Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations
    • Meijers-Heijboer, H. et al. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nature Genet. 31, 55-59 (2002).
    • (2002) Nature Genet , vol.31 , pp. 55-59
    • Meijers-Heijboer, H.1
  • 11
    • 33847227378 scopus 로고    scopus 로고
    • A recurrent mutation in PALB2 in Finnish cancer families
    • Erkko, H. et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature 446, 316-319 (2007).
    • (2007) Nature , vol.446 , pp. 316-319
    • Erkko, H.1
  • 12
    • 33746491583 scopus 로고    scopus 로고
    • ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
    • Renwick, A. et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nature Genet. 38, 873-875 (2006).
    • (2006) Nature Genet , vol.38 , pp. 873-875
    • Renwick, A.1
  • 13
    • 85172068566 scopus 로고    scopus 로고
    • Seal, S. et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nature Genet. 38, 1239-1241 (2006).
    • Seal, S. et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nature Genet. 38, 1239-1241 (2006).
  • 14
    • 3042582651 scopus 로고    scopus 로고
    • CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from ten studies
    • The CHEK2 Breast Cancer Case-Control Consortium
    • The CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from ten studies. Am. J. Hum. Genet. 74, 1175-1182 (2004).
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 1175-1182
  • 15
    • 85172068578 scopus 로고    scopus 로고
    • Cox, A. et al. A common coding variant in CASP8 is associated with breast cancer risk. Nature Genetics 39, 352-358 (2007); corrigendum 39, 688 (2007).
    • Cox, A. et al. A common coding variant in CASP8 is associated with breast cancer risk. Nature Genetics 39, 352-358 (2007); corrigendum 39, 688 (2007).
  • 16
    • 0033281771 scopus 로고    scopus 로고
    • How many more breast cancer predisposition genes are there?
    • Easton, D. F. How many more breast cancer predisposition genes are there? Breast Cancer Res. 1, 1-4 (1999).
    • (1999) Breast Cancer Res , vol.1 , pp. 1-4
    • Easton, D.F.1
  • 17
    • 0035094764 scopus 로고    scopus 로고
    • Variation is the spice of life
    • Kruglyak, L. & Nickerson, D. A. Variation is the spice of life. Nature Genet. 27, 234-236 (2001).
    • (2001) Nature Genet , vol.27 , pp. 234-236
    • Kruglyak, L.1    Nickerson, D.A.2
  • 18
    • 13844313862 scopus 로고    scopus 로고
    • Whole-genome patterns of common DNA variation in three human populations
    • Hinds, D. A. et al. Whole-genome patterns of common DNA variation in three human populations. Science 307, 1072-1079 (2005).
    • (2005) Science , vol.307 , pp. 1072-1079
    • Hinds, D.A.1
  • 20
    • 0142063079 scopus 로고    scopus 로고
    • Polygenic inheritance of breast cancer: Implications for design of association studies
    • Antoniou, A. C. & Easton, D. F. Polygenic inheritance of breast cancer: Implications for design of association studies. Genet. Epidemiol. 25, 190-202 (2003).
    • (2003) Genet. Epidemiol , vol.25 , pp. 190-202
    • Antoniou, A.C.1    Easton, D.F.2
  • 21
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • Altshuler, D. et al. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
    • (2005) Nature , vol.437 , pp. 1299-1320
    • Altshuler, D.1
  • 22
    • 0032714352 scopus 로고    scopus 로고
    • Genomic control for association studies
    • Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics 55, 997-1004 (1999).
    • (1999) Biometrics , vol.55 , pp. 997-1004
    • Devlin, B.1    Roeder, K.2
  • 23
    • 23944469845 scopus 로고    scopus 로고
    • Recent developments in genomewide association scans: A workshop summary and review
    • Thomas, D. C., Haile, R. W. & Duggan, D. Recent developments in genomewide association scans: A workshop summary and review. Am. J. Hum. Genet. 77, 337-345 (2005).
    • (2005) Am. J. Hum. Genet , vol.77 , pp. 337-345
    • Thomas, D.C.1    Haile, R.W.2    Duggan, D.3
  • 24
    • 33745169697 scopus 로고    scopus 로고
    • A common variant associated with prostate cancer in European and African populations
    • Amundadottir, L. T. et al. A common variant associated with prostate cancer in European and African populations. Nature Genet. 38, 652-658 (2006).
    • (2006) Nature Genet , vol.38 , pp. 652-658
    • Amundadottir, L.T.1
  • 25
    • 34247548755 scopus 로고    scopus 로고
    • Genome-wide association study of prostate cancer identifies a second risk locus at 8q24
    • Yeager, M. et al. Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nature Genet. 39, 645-649 (2007).
    • (2007) Nature Genet , vol.39 , pp. 645-649
    • Yeager, M.1
  • 26
    • 34247563453 scopus 로고    scopus 로고
    • Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
    • Gudmundsson, J. et al. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nature Genet. 39, 631-637 (2007).
    • (2007) Nature Genet , vol.39 , pp. 631-637
    • Gudmundsson, J.1
  • 27
    • 33846067075 scopus 로고    scopus 로고
    • PReMod: A database of genome-wide mammalian cis-regulatory module predictions
    • Ferretti, V. et al. PReMod: a database of genome-wide mammalian cis-regulatory module predictions. Nucleic Acids Res. 35, D122-D126 (2007).
    • (2007) Nucleic Acids Res , vol.35
    • Ferretti, V.1
  • 28
    • 9344222224 scopus 로고    scopus 로고
    • Transforming potential of alternatively spliced variants of fibroblast growth factor receptor 2 in human mammary epithelial cells
    • Moffa, A. B., Tannheimer, S. L. & Ethier, S. P. Transforming potential of alternatively spliced variants of fibroblast growth factor receptor 2 in human mammary epithelial cells. Mol. Cancer Res. 2, 643-652 (2004).
    • (2004) Mol. Cancer Res , vol.2 , pp. 643-652
    • Moffa, A.B.1    Tannheimer, S.L.2    Ethier, S.P.3
  • 29
    • 0025778485 scopus 로고
    • Bek and Flg, 2 receptors to members of the Fgf family, are amplified in subsets of human breast cancers
    • Adnane, J. et al. Bek and Flg, 2 receptors to members of the Fgf family, are amplified in subsets of human breast cancers. Oncogene 6, 659-663 (1991).
    • (1991) Oncogene , vol.6 , pp. 659-663
    • Adnane, J.1
  • 30
    • 0035328856 scopus 로고    scopus 로고
    • Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers
    • Jang, J. H., Shin, K. H. & Park, J. G. Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers. Cancer Res. 61, 3541-3543 (2001).
    • (2001) Cancer Res , vol.61 , pp. 3541-3543
    • Jang, J.H.1    Shin, K.H.2    Park, J.G.3
  • 31
    • 33947101019 scopus 로고    scopus 로고
    • Patterns of somatic mutation in human cancer genomes
    • Greenman, C. et al. Patterns of somatic mutation in human cancer genomes. Nature 446, 153-158 (2007).
    • (2007) Nature , vol.446 , pp. 153-158
    • Greenman, C.1
  • 32
    • 26444460889 scopus 로고    scopus 로고
    • Allelic association of the human homologue of the mouse modifier Ptprj with breast cancer
    • Lesueur, F. et al. Allelic association of the human homologue of the mouse modifier Ptprj with breast cancer. Hum. Mol. Genet. 14, 2349-2356 (2005).
    • (2005) Hum. Mol. Genet , vol.14 , pp. 2349-2356
    • Lesueur, F.1
  • 33
    • 0032795012 scopus 로고    scopus 로고
    • EPIC-Norfolk: Study design and characteristics of the cohort
    • Day, N. et al. EPIC-Norfolk: Study design and characteristics of the cohort. Br. J. Cancer 80, 95-103 (1999).
    • (1999) Br. J. Cancer , vol.80 , pp. 95-103
    • Day, N.1
  • 34
    • 33749571327 scopus 로고    scopus 로고
    • Commonly studied SNPs and breast cancer: Negative results from 12,000 - 32,000 cases and controls from the Breast Cancer Association Consortium
    • Breast Cancer Association Consortium
    • Breast Cancer Association Consortium. Commonly studied SNPs and breast cancer: Negative results from 12,000 - 32,000 cases and controls from the Breast Cancer Association Consortium. J. Natl Cancer Inst. 98, 1382-1396 (2006).
    • (2006) J. Natl Cancer Inst , vol.98 , pp. 1382-1396
  • 35
    • 18444402182 scopus 로고    scopus 로고
    • The Ensembl genome database project
    • Hubbard, T. et al. The Ensembl genome database project. Nucleic Acids Res. 30, 38-41 (2002).
    • (2002) Nucleic Acids Res , vol.30 , pp. 38-41
    • Hubbard, T.1
  • 36
    • 18344396798 scopus 로고    scopus 로고
    • Comprehensive human genome amplification using multiple displacement amplification
    • Dean, F. B. et al. Comprehensive human genome amplification using multiple displacement amplification. Proc. Natl Acad. Sci. USA 99, 5261-5266 (2002).
    • (2002) Proc. Natl Acad. Sci. USA , vol.99 , pp. 5261-5266
    • Dean, F.B.1
  • 37
    • 27644439141 scopus 로고    scopus 로고
    • Efficiency and power in genetic association studies
    • de Bakker, P. I. W. et al. Efficiency and power in genetic association studies. Nature Genet. 37, 1217-1223 (2005).
    • (2005) Nature Genet , vol.37 , pp. 1217-1223
    • de Bakker, P.I.W.1
  • 38
    • 33750317855 scopus 로고    scopus 로고
    • The admixture maximum likelihood test: A novel experiment-wise test of association between disease and multiple SNPs
    • Tyrer, J., Pharoah, P. D. P. & Easton, D. F. The admixture maximum likelihood test: A novel experiment-wise test of association between disease and multiple SNPs. Genet. Epidemiol. 30, 636-643 (2006).
    • (2006) Genet. Epidemiol , vol.30 , pp. 636-643
    • Tyrer, J.1    Pharoah, P.D.P.2    Easton, D.F.3
  • 39
    • 0036155283 scopus 로고    scopus 로고
    • Score tests for association between traits and haplotypes when linkage phase is ambiguous
    • Schaid, D. J., Rowland, C. M., Tines, D. E., Jacobson, R. M. & Poland, G. A. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am. J. Hum. Genet. 70, 425-434 (2002).
    • (2002) Am. J. Hum. Genet , vol.70 , pp. 425-434
    • Schaid, D.J.1    Rowland, C.M.2    Tines, D.E.3    Jacobson, R.M.4    Poland, G.A.5


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