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Volumn 53, Issue 1, 2016, Pages 34-42

Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA1 PROTEIN; BRCA2 PROTEIN; BRIP1 PROTEIN; CHECKPOINT KINASE 2; CYCLIN DEPENDENT KINASE 4; MRE11 PROTEIN; PALB2 PROTEIN; PROTEIN; PROTEIN KINASE LKB1; PROTEIN P53; RAD50 PROTEIN; RAD51C PROTEIN; RAD51D PROTEIN; TENOFOVIR 3 HEXADECYLOXYPROPYL ESTER; UNCLASSIFIED DRUG; UVOMORULIN; TUMOR MARKER;

EID: 84958949508     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103452     Document Type: Article
Times cited : (63)

References (36)
  • 3
    • 84885426057 scopus 로고    scopus 로고
    • Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk
    • Zhang G, Zeng Y, Liu Z, Wei W. Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. Tumour Biol 2013;34:2753-7.
    • (2013) Tumour Biol , vol.34 , pp. 2753-2757
    • Zhang, G.1    Zeng, Y.2    Liu, Z.3    Wei, W.4
  • 4
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754-60.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 6
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
    • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:e164.
    • (2010) Nucleic Acids Res , vol.38
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 7
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-81.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 9
    • 84856579570 scopus 로고    scopus 로고
    • Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools
    • San Lucas FA, Wang G, Scheet P, Peng B. Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools. Bioinformatics 2012;28:421-2.
    • (2012) Bioinformatics , vol.28 , pp. 421-422
    • San Lucas, F.A.1    Wang, G.2    Scheet, P.3    Peng, B.4
  • 10
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010;7:575-6.
    • (2010) Nat Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 11
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 2014;46:310-15.
    • (2014) Nat Genet , vol.46 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 14
    • 0347988093 scopus 로고    scopus 로고
    • Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths
    • Eng L, Coutinho G, Nahas S, Yeo G, Tanouye R, Babaei M, Dork T, Burge C, Gatti RA. Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths. Hum Mutat 2004;23:67-76.
    • (2004) Hum Mutat , vol.23 , pp. 67-76
    • Eng, L.1    Coutinho, G.2    Nahas, S.3    Yeo, G.4    Tanouye, R.5    Babaei, M.6    Dork, T.7    Burge, C.8    Gatti, R.A.9
  • 26
    • 84905842087 scopus 로고    scopus 로고
    • Breast-cancer risk in families with mutations in PALB2
    • Antoniou AC, Foulkes WD, Tischkowitz M. Breast-cancer risk in families with mutations in PALB2. N Engl J Med 2014;371:1651-2.
    • (2014) N Engl J Med , vol.371 , pp. 1651-1652
    • Antoniou, A.C.1    Foulkes, W.D.2    Tischkowitz, M.3
  • 28
    • 0035211026 scopus 로고    scopus 로고
    • Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families
    • Pharoah PD, Guilford P, Caldas C, International Gastric Cancer Linkage C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 2001;121:1348-53.
    • (2001) Gastroenterology , vol.121 , pp. 1348-1353
    • Pharoah, P.D.1    Guilford, P.2    Caldas, C.3    International Gastric Cancer Linkage, C.4
  • 31
    • 34248379012 scopus 로고    scopus 로고
    • Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database
    • Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M. Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat 2007;28:622-9.
    • (2007) Hum Mutat , vol.28 , pp. 622-629
    • Petitjean, A.1    Mathe, E.2    Kato, S.3    Ishioka, C.4    Tavtigian, S.V.5    Hainaut, P.6    Olivier, M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.