메뉴 건너뛰기




Volumn 19, Issue 9, 2010, Pages 2143-2151

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

(88)  Fletcher, Olivia a,b   Johnson, Nichola a   Dos Santos Silva, Isabel b   Ashworth, Alan a   Nevanlinna, Heli c   Heikkinen, Tuomas c   Aittomäki, Kristiina c   Blomqvist, Carl c   Burwinkel, Barbara d,e   Bartram, Claus R d   Meindl, Alfons f   Schmutzler, Rita K g   Cox, Angela h   Brock, Ian h   Elliott, Graeme a,b   Reed, Malcolm W R h   Southey, Melissa C i   Smith, Letitia i   Spurdle, Amanda B j   Hopper, John L i   more..


Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN;

EID: 77956497347     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-10-0374     Document Type: Article
Times cited : (33)

References (36)
  • 3
    • 33746491583 scopus 로고    scopus 로고
    • ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
    • Renwick A, Thompson D, Seal S, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006;38:873-5.
    • (2006) Nat Genet , vol.38 , pp. 873-875
    • Renwick, A.1    Thompson, D.2    Seal, S.3
  • 4
    • 33750904243 scopus 로고    scopus 로고
    • Population-based estimates of breast cancer risks associated with ATM gene variants c. 7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry
    • Bernstein JL, Teraoka S, Southey MC, et al. Population-based estimates of breast cancer risks associated with ATM gene variants c. 7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. Hum Mutat 2006;27:1122-8.
    • (2006) Hum Mutat , vol.27 , pp. 1122-1128
    • Bernstein, J.L.1    Teraoka, S.2    Southey, M.C.3
  • 5
    • 0033380655 scopus 로고    scopus 로고
    • Cancer risk in ATM heterozygotes: A model of phenotypic and mechanistic differences between missense and truncating mutations
    • Gatti RA, Tward A, Concannon P. Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations. Mol Genet Metab 1999;68:419-23.
    • (1999) Mol Genet Metab , vol.68 , pp. 419-423
    • Gatti, R.A.1    Tward, A.2    Concannon, P.3
  • 6
    • 9144251637 scopus 로고    scopus 로고
    • ATM and genome maintenance: Defining its role in breast cancer susceptibility
    • DOI 10.1023/B:JOMG.0000048772.92326.a1, Chromosomal Instability and Breast Cancer Pathogenesis
    • Khanna KK, Chenevix-Trench G. ATM and genome maintenance: defining its role in breast cancer susceptibility. J Mammary Gland Biol Neoplasia 2004;9:247-62. (Pubitemid 39545742)
    • (2004) Journal of Mammary Gland Biology and Neoplasia , vol.9 , Issue.3 , pp. 247-262
    • Khanna, K.K.1    Chenevix-Trench, G.2
  • 7
    • 33749023605 scopus 로고    scopus 로고
    • ATM and breast cancer susceptibility
    • Ahmed M, Rahman N. ATM and breast cancer susceptibility. Oncogene 2006;25:5906-11.
    • (2006) Oncogene , vol.25 , pp. 5906-5911
    • Ahmed, M.1    Rahman, N.2
  • 8
    • 34447295643 scopus 로고    scopus 로고
    • Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility
    • Johnson N, Fletcher O, Palles C, et al. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet 2007;16:1051-7.
    • (2007) Hum Mol Genet , vol.16 , pp. 1051-1057
    • Johnson, N.1    Fletcher, O.2    Palles, C.3
  • 9
    • 33847337318 scopus 로고    scopus 로고
    • A common coding variant in CASP8 is associated with breast cancer risk
    • Cox A, Dunning AM, Garcia-Closas M, et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 2007;39:352-8.
    • (2007) Nat Genet , vol.39 , pp. 352-358
    • Cox, A.1    Dunning, A.M.2    Garcia-Closas, M.3
  • 11
    • 0142063079 scopus 로고    scopus 로고
    • Polygenic inheritance of breast cancer: Implications for design of association studies
    • Antoniou AC, Easton DF. Polygenic inheritance of breast cancer: implications for design of association studies. Genet Epidemiol 2003;25:190-202.
    • (2003) Genet Epidemiol , vol.25 , pp. 190-202
    • Antoniou, A.C.1    Easton, D.F.2
  • 12
    • 33746768935 scopus 로고    scopus 로고
    • Inconsistent association between the STK15 F31I genetic polymorphism and breast cancer risk
    • Fletcher O, Johnson N, Palles C, et al. Inconsistent association between the STK15 F31I genetic polymorphism and breast cancer risk. J Natl Cancer Inst 2006;98:1014-8.
    • (2006) J Natl Cancer Inst , vol.98 , pp. 1014-1018
    • Fletcher, O.1    Johnson, N.2    Palles, C.3
  • 14
    • 34247625921 scopus 로고    scopus 로고
    • No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer
    • Spurdle AB, Hopper JL, Chen X, et al. No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. Breast Cancer Res 2002;4:R15.
    • (2002) Breast Cancer Res , vol.4
    • Spurdle, A.B.1    Hopper, J.L.2    Chen, X.3
  • 17
    • 35748981184 scopus 로고    scopus 로고
    • Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
    • Burton PR, Clayton DG, Cardon LR, et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 2007;39:1329-37.
    • (2007) Nat Genet , vol.39 , pp. 1329-1337
    • Burton, P.R.1    Clayton, D.G.2    Cardon, L.R.3
  • 18
    • 70350490327 scopus 로고    scopus 로고
    • Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer
    • Tavtigian SV, Oefner PJ, Babikyan D, et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet 2009;85:427-46.
    • (2009) Am J Hum Genet , vol.85 , pp. 427-446
    • Tavtigian, S.V.1    Oefner, P.J.2    Babikyan, D.3
  • 20
    • 53049104973 scopus 로고    scopus 로고
    • Variants in the ATM gene associated with a reduced risk of contralateral breast cancer
    • Concannon P, Haile RW, Borresen-Dale AL, et al. Variants in the ATM gene associated with a reduced risk of contralateral breast cancer. Cancer Res 2008;68:6486-91.
    • (2008) Cancer Res , vol.68 , pp. 6486-6491
    • Concannon, P.1    Haile, R.W.2    Borresen-Dale, A.L.3
  • 21
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • DOI 10.1093/nar/gkg509
    • Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-4. (Pubitemid 37442253)
    • (2003) Nucleic Acids Research , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 22
    • 34250006413 scopus 로고    scopus 로고
    • Genome-wide association study identifies novel breast cancer susceptibility loci
    • Easton DF, Pooley KA, Dunning AM, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007;447:1087-93.
    • (2007) Nature , vol.447 , pp. 1087-1093
    • Easton, D.F.1    Pooley, K.A.2    Dunning, A.M.3
  • 23
    • 34250001297 scopus 로고    scopus 로고
    • A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
    • Hunter DJ, Kraft P, Jacobs KB, et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 2007;39:870-4.
    • (2007) Nat Genet , vol.39 , pp. 870-874
    • Hunter, D.J.1    Kraft, P.2    Jacobs, K.B.3
  • 24
    • 34250002140 scopus 로고    scopus 로고
    • Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
    • Stacey SN, Manolescu A, Sulem P, et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007;39:865-9.
    • (2007) Nat Genet , vol.39 , pp. 865-869
    • Stacey, S.N.1    Manolescu, A.2    Sulem, P.3
  • 25
    • 44349087530 scopus 로고    scopus 로고
    • Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer
    • Stacey SN, Manolescu A, Sulem P, et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2008;40:703-6.
    • (2008) Nat Genet , vol.40 , pp. 703-706
    • Stacey, S.N.1    Manolescu, A.2    Sulem, P.3
  • 26
    • 61349163553 scopus 로고    scopus 로고
    • Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1
    • Zheng W, Long J, Gao YT, et al. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 2009;41:324-8.
    • (2009) Nat Genet , vol.41 , pp. 324-328
    • Zheng, W.1    Long, J.2    Gao, Y.T.3
  • 27
    • 67349158067 scopus 로고    scopus 로고
    • A multistage genome-wide association study in breast cancer identifies 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 identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet 2009;41:579-84.
    • (2009) Nat Genet , vol.41 , pp. 579-584
    • Thomas, G.1    Jacobs, K.B.2    Kraft, P.3
  • 28
    • 62549085618 scopus 로고    scopus 로고
    • Human genetic variation and its contribution to complex traits
    • Frazer KA, Murray SS, Schork NJ, Topol EJ. Human genetic variation and its contribution to complex traits. Nat Rev Genet 2009;10:241-51.
    • (2009) Nat Rev Genet , vol.10 , pp. 241-251
    • Frazer, K.A.1    Murray, S.S.2    Schork, N.J.3    Topol, E.J.4
  • 29
    • 0030852505 scopus 로고    scopus 로고
    • BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing
    • Shattuck-Eidens D, Oliphant A, McClure M, et al. BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 1997;278:1242-50.
    • (1997) JAMA , vol.278 , pp. 1242-1250
    • Shattuck-Eidens, D.1    Oliphant, A.2    McClure, M.3
  • 30
    • 33750465216 scopus 로고    scopus 로고
    • Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
    • Seal S, Thompson D, Renwick A, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006;38:1239-41.
    • (2006) Nat Genet , vol.38 , pp. 1239-1241
    • Seal, S.1    Thompson, D.2    Renwick, A.3
  • 31
    • 33846625493 scopus 로고    scopus 로고
    • PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
    • Rahman N, Seal S, Thompson D, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007;39:165-7.
    • (2007) Nat Genet , vol.39 , pp. 165-167
    • Rahman, N.1    Seal, S.2    Thompson, D.3
  • 34
    • 55549111626 scopus 로고    scopus 로고
    • Assessing pathogenicity: Overview of results from the IARC Unclassified Genetic Variants Working Group
    • Tavtigian SV, Greenblatt MS, Goldgar DE, Boffetta P. Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group. Hum Mutat 2008;29:1261-4.
    • (2008) Hum Mutat , vol.29 , pp. 1261-1264
    • Tavtigian, S.V.1    Greenblatt, M.S.2    Goldgar, D.E.3    Boffetta, P.4
  • 35
    • 55549145156 scopus 로고    scopus 로고
    • In silico analysis of missense substitutions using sequence-alignment based methods
    • Tavtigian SV, Greenblatt MS, Lesueur F, Byrnes GB. In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat 2008;29:1327-36.
    • (2008) Hum Mutat , vol.29 , pp. 1327-1336
    • Tavtigian, S.V.1    Greenblatt, M.S.2    Lesueur, F.3    Byrnes, G.B.4
  • 36
    • 55549137442 scopus 로고    scopus 로고
    • Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
    • Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, Greenblatt MS. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat 2008;29:1265-72.
    • (2008) Hum Mutat , vol.29 , pp. 1265-1272
    • Goldgar, D.E.1    Easton, D.F.2    Byrnes, G.B.3    Spurdle, A.B.4    Iversen, E.S.5    Greenblatt, M.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.