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Volumn 34, Issue 34, 2016, Pages 4071-4078

Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the prospective registry of multiplex testing

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; CHECKPOINT KINASE 2;

EID: 84992447372     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2016.68.4316     Document Type: Article
Times cited : (145)

References (24)
  • 1
    • 84930531402 scopus 로고    scopus 로고
    • Gene-panel sequencing and the prediction of breast-cancer risk
    • Easton DF, Pharoah PD, Antoniou AC, et al: Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 372:2243-2257, 2015
    • (2015) N Engl J Med , vol.372 , pp. 2243-2257
    • Easton, D.F.1    Pharoah, P.D.2    Antoniou, A.C.3
  • 2
    • 84930526399 scopus 로고    scopus 로고
    • ClinGen: The Clinical Genome Resource
    • Rehm HL, Berg JS, Brooks LD, et al: ClinGen: the Clinical Genome Resource. N Engl J Med 372:2235-2242, 2015
    • (2015) N Engl J Med , vol.372 , pp. 2235-2242
    • Rehm, H.L.1    Berg, J.S.2    Brooks, L.D.3
  • 3
    • 84954313392 scopus 로고    scopus 로고
    • The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
    • Pepin MG, Murray ML, Bailey S, et al: The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories. Genet Med 18:20-24, 2016
    • (2016) Genet Med , vol.18 , pp. 20-24
    • Pepin, M.G.1    Murray, M.L.2    Bailey, S.3
  • 4
    • 84939157303 scopus 로고    scopus 로고
    • Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
    • Jurgens J, Ling H, Hetrick K, et al: Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet Med 17:782-788, 2015
    • (2015) Genet Med , vol.17 , pp. 782-788
    • Jurgens, J.1    Ling, H.2    Hetrick, K.3
  • 5
    • 55549101314 scopus 로고    scopus 로고
    • Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results
    • Plon SE, Eccles DM, Easton D, et al: Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 29:1282-1291, 2008
    • (2008) Hum Mutat , vol.29 , pp. 1282-1291
    • Plon, S.E.1    Eccles, D.M.2    Easton, D.3
  • 6
    • 84928209346 scopus 로고    scopus 로고
    • Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405-424, 2015
    • (2015) Genet Med , vol.17 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3
  • 7
    • 84891809093 scopus 로고    scopus 로고
    • ClinVar: Public archive of relationships among sequence variation and human phenotype
    • Landrum MJ, Lee JM, Riley GR, et al: ClinVar: Public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 42:D980-D985, 2014
    • (2014) Nucleic Acids Res , vol.42 , pp. D980-D985
    • Landrum, M.J.1    Lee, J.M.2    Riley, G.R.3
  • 8
    • 84976904305 scopus 로고    scopus 로고
    • ClinVar: Public archive of interpretations of clinically relevant variants
    • Landrum MJ, Lee JM, Benson M, et al: ClinVar: Public archive of interpretations of clinically relevant variants. Nucleic Acids Res, 44:D862-D868, 2016
    • (2016) Nucleic Acids Res , vol.44 , pp. D862-D868
    • Landrum, M.J.1    Lee, J.M.2    Benson, M.3
  • 9
    • 84855572921 scopus 로고    scopus 로고
    • CHEK2 contribution to hereditary breast cancer in non-BRCA families
    • Desrichard A, Bidet Y, Uhrhammer N, et al: CHEK2 contribution to hereditary breast cancer in non-BRCA families. Breast Cancer Res 13:R119, 2011
    • (2011) Breast Cancer Res , vol.13 , pp. R119
    • Desrichard, A.1    Bidet, Y.2    Uhrhammer, N.3
  • 10
    • 84867840926 scopus 로고    scopus 로고
    • The CHEK2 I157T variant and breast cancer susceptibility: A systematic review and meta-analysis
    • Liu C, Wang Y, Wang QS, et al: The CHEK2 I157T variant and breast cancer susceptibility: A systematic review and meta-analysis. Asian Pac J Cancer Prev 13:1355-1360, 2012
    • (2012) Asian Pac J Cancer Prev , vol.13 , pp. 1355-1360
    • Liu, C.1    Wang, Y.2    Wang, Q.S.3
  • 11
    • 84878427286 scopus 로고    scopus 로고
    • The effect of CHEK2 variant I157T on cancer susceptibility: Evidence from a meta-analysis
    • Han FF, Guo CL, Liu LH: The effect of CHEK2 variant I157T on cancer susceptibility: Evidence from a meta-analysis. DNA Cell Biol 32:329-335, 2013
    • (2013) DNA Cell Biol , vol.32 , pp. 329-335
    • Han, F.F.1    Guo, C.L.2    Liu, L.H.3
  • 12
    • 0347382813 scopus 로고    scopus 로고
    • CHEK2 variants associate with hereditary prostate cancer
    • Seppälä EH, Ikonen T, Mononen N, et al: CHEK2 variants associate with hereditary prostate cancer. Br J Cancer 89:1966-1970, 2003
    • (2003) Br J Cancer , vol.89 , pp. 1966-1970
    • Seppälä, E.H.1    Ikonen, T.2    Mononen, N.3
  • 13
    • 8844220451 scopus 로고    scopus 로고
    • CHEK2 is a multiorgan cancer susceptibility gene
    • Cybulski C, Górski B, Huzarski T, et al: CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet 75:1131-1135, 2004
    • (2004) Am J Hum Genet , vol.75 , pp. 1131-1135
    • Cybulski, C.1    Górski, B.2    Huzarski, T.3
  • 14
    • 0035848819 scopus 로고    scopus 로고
    • The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis
    • Falck J, Mailand N, Syljuåsen RG, et al: The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. Nature 410:842-847, 2001
    • (2001) Nature , vol.410 , pp. 842-847
    • Falck, J.1    Mailand, N.2    Syljuåsen, R.G.3
  • 15
    • 0037795780 scopus 로고    scopus 로고
    • Regulation of the Chk2 protein kinase by oligomerization-mediated cis- and trans-phosphorylation
    • Schwarz JK, Lovly CM, Piwnica-Worms H: Regulation of the Chk2 protein kinase by oligomerization-mediated cis- and trans-phosphorylation. Mol Cancer Res 1:598-609, 2003
    • (2003) Mol Cancer Res , vol.1 , pp. 598-609
    • Schwarz, J.K.1    Lovly, C.M.2    Piwnica-Worms, H.3
  • 16
    • 84861747135 scopus 로고    scopus 로고
    • Response to DNA damage of CHEK2 missense mutations in familial breast cancer
    • Roeb W, Higgins J, King MC: Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Hum Mol Genet 21:2738-2744, 2012
    • (2012) Hum Mol Genet , vol.21 , pp. 2738-2744
    • Roeb, W.1    Higgins, J.2    King, M.C.3
  • 17
    • 84984798001 scopus 로고    scopus 로고
    • Germline sequence variants and ovarian cancer: Known-knowns and known-unknowns
    • Stoffel EM, Fearon ER: Germline sequence variants and ovarian cancer: Known-knowns and known-unknowns. JAMA Oncol 2:491-492, 2016
    • (2016) JAMA Oncol , vol.2 , pp. 491-492
    • Stoffel, E.M.1    Fearon, E.R.2
  • 18
    • 20644461718 scopus 로고    scopus 로고
    • BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function
    • Cantor SB, Bell DW, Ganesan S, et al: BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105:149-160, 2001
    • (2001) Cell , vol.105 , pp. 149-160
    • Cantor, S.B.1    Bell, D.W.2    Ganesan, S.3
  • 19
    • 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 38:1239-1241, 2006
    • (2006) Nat Genet , vol.38 , pp. 1239-1241
    • Seal, S.1    Thompson, D.2    Renwick, A.3
  • 20
    • 84952641661 scopus 로고    scopus 로고
    • Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer
    • Ramus SJ, Song H, Dicks E, et al: Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer. J Natl Cancer Inst 107:djv214, 2015
    • (2015) J Natl Cancer Inst , vol.107
    • Ramus, S.J.1    Song, H.2    Dicks, E.3
  • 22
    • 84895789502 scopus 로고    scopus 로고
    • Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
    • Thompson BA, Spurdle AB, Plazzer JP, et al: Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet 46:107-115, 2014
    • (2014) Nat Genet , vol.46 , pp. 107-115
    • Thompson, B.A.1    Spurdle, A.B.2    Plazzer, J.P.3
  • 23
    • 84943787980 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance
    • Eccles DM, Mitchell G, Monteiro AN, et al: BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance. Ann Oncol 26:2057-2065, 2015
    • (2015) Ann Oncol , vol.26 , pp. 2057-2065
    • Eccles, D.M.1    Mitchell, G.2    Monteiro, A.N.3
  • 24
    • 79954997174 scopus 로고    scopus 로고
    • LOVD v.2.0: The next generation in gene variant databases
    • Fokkema IF, Taschner PE, Schaafsma GC, et al: LOVD v.2.0: The next generation in gene variant databases. Hum Mutat 32:557-563, 2011
    • (2011) Hum Mutat , vol.32 , pp. 557-563
    • Fokkema, I.F.1    Taschner, P.E.2    Schaafsma, G.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.