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Volumn 34, Issue 10, 2013, Pages 1424-1431

Evaluation of a 5-Tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: Inter-reviewer variability and promotion of minimum reporting guidelines

Author keywords

BRCA1; BRCA2; Classification; Splicing assays

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 84884530215     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22388     Document Type: Article
Times cited : (30)

References (31)
  • 8
    • 0037443035 scopus 로고    scopus 로고
    • Pre-mRNA splicing and human disease
    • Faustino NA, Cooper TA. 2003. Pre-mRNA splicing and human disease. Genes Dev 17(4):419-437.
    • (2003) Genes Dev , vol.17 , Issue.4 , pp. 419-437
    • Faustino, N.A.1    Cooper, T.A.2
  • 10
    • 4544336084 scopus 로고    scopus 로고
    • Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2
    • Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ. 2004. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 75(4):535-544.
    • (2004) Am J Hum Genet , vol.75 , Issue.4 , pp. 535-544
    • Goldgar, D.E.1    Easton, D.F.2    Deffenbaugh, A.M.3    Monteiro, A.N.4    Tavtigian, S.V.5    Couch, F.J.6
  • 13
    • 0035123236 scopus 로고    scopus 로고
    • Germ line mutations associated with breast cancer susceptibility
    • Iau PT, Macmillan RD, Blamey RW. 2001. Germ line mutations associated with breast cancer susceptibility. Eur J Cancer 37(3):300-321.
    • (2001) Eur J Cancer , vol.37 , Issue.3 , pp. 300-321
    • Iau, P.T.1    Macmillan, R.D.2    Blamey, R.W.3
  • 14
    • 79959693666 scopus 로고    scopus 로고
    • Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants
    • Mucaki EJ, Ainsworth P, Rogan PK. 2011. Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. Hum Mutat 32(7):735-742.
    • (2011) Hum Mutat , vol.32 , Issue.7 , pp. 735-742
    • Mucaki, E.J.1    Ainsworth, P.2    Rogan, P.K.3
  • 15
    • 0034816781 scopus 로고    scopus 로고
    • Expression profiles of BRCA1 splice variants in asynchronous and in G1/S synchronized tumor cell lines
    • Orban TI, Olah E. 2001. Expression profiles of BRCA1 splice variants in asynchronous and in G1/S synchronized tumor cell lines. Biochem Biophys Res Commun 280(1):32-38.
    • (2001) Biochem Biophys Res Commun , vol.280 , Issue.1 , pp. 32-38
    • Orban, T.I.1    Olah, E.2
  • 17
    • 79551644558 scopus 로고    scopus 로고
    • Unclassified variants in BRCA genes: guidelines for interpretation
    • Radice P, De Summa S, Caleca L, Tommasi S. 2011. Unclassified variants in BRCA genes: guidelines for interpretation. Ann Oncol 22 Suppl 1:i18-i23.
    • (2011) Ann Oncol , vol.22 , Issue.SUPPL 1
    • Radice, P.1    De Summa, S.2    Caleca, L.3    Tommasi, S.4
  • 19
    • 55549124905 scopus 로고    scopus 로고
    • Prediction and assessment of splicing alterations: implications for clinical testing
    • Spurdle AB, Couch FJ, Hogervorst FB, Radice P, Sinilnikova OM. 2008. Prediction and assessment of splicing alterations: implications for clinical testing. Hum Mutat 29(11):1304-1313.
    • (2008) Hum Mutat , vol.29 , Issue.11 , pp. 1304-1313
    • Spurdle, A.B.1    Couch, F.J.2    Hogervorst, F.B.3    Radice, P.4    Sinilnikova, O.M.5
  • 21
    • 79960607075 scopus 로고    scopus 로고
    • Loss of exon identity is a common mechanism of human inherited disease
    • Sterne-Weiler T, Howard J, Mort M, Cooper DN, Sanford JR. 2011. Loss of exon identity is a common mechanism of human inherited disease. Genome Res 21(10):1563-1571.
    • (2011) Genome Res , vol.21 , Issue.10 , pp. 1563-1571
    • Sterne-Weiler, T.1    Howard, J.2    Mort, M.3    Cooper, D.N.4    Sanford, J.R.5
  • 22
    • 55549147204 scopus 로고    scopus 로고
    • Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications
    • Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A. 2008. Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat 29(11):1342-1354.
    • (2008) Hum Mutat , vol.29 , Issue.11 , pp. 1342-1354
    • Tavtigian, S.V.1    Byrnes, G.B.2    Goldgar, D.E.3    Thomas, A.4
  • 25
    • 84871613264 scopus 로고    scopus 로고
    • A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry
    • Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael DW, Gallinger S, Haile RW, Hopper JL, Jenkins MA, et al. 2013a. A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. Hum Mutat 34(1):200-209.
    • (2013) Hum Mutat , vol.34 , Issue.1 , pp. 200-209
    • Thompson, B.A.1    Goldgar, D.E.2    Paterson, C.3    Clendenning, M.4    Walters, R.5    Arnold, S.6    Parsons, M.T.7    Michael, D.W.8    Gallinger, S.9    Haile, R.W.10    Hopper, J.L.11    Jenkins, M.A.12
  • 28
    • 84859881009 scopus 로고    scopus 로고
    • Analysis and interpretation of RNA splicing alterations in genes involved in genetic disorders
    • Vreeswijk MP, van der Klift HM. 2012. Analysis and interpretation of RNA splicing alterations in genes involved in genetic disorders. Methods Mol Biol 867:49-63.
    • (2012) Methods Mol Biol , vol.867 , pp. 49-63
    • Vreeswijk, M.P.1    van der Klift, H.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.