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Volumn 152, Issue 1, 2015, Pages 129-136

HBOC multi-gene panel testing: comparison of two sequencing centers

Author keywords

Amplicon; Benchmark test; Cancer susceptibility; Capture; Next generation sequencing

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 84931008192     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-015-3429-9     Document Type: Article
Times cited : (40)

References (40)
  • 1
    • 76049128595 scopus 로고    scopus 로고
    • Estimates of cancer incidence and mortality in Europe in 2008
    • COI: 1:STN:280:DC%2BC3c7js1CktA%3D%3D, PID: 20116997
    • Ferlay J, Parkin DM, Steliarova-Foucher E (2010) Estimates of cancer incidence and mortality in Europe in 2008. Eur J Cancer 46(4):765–781. doi:10.1016/j.ejca.2009.12.014
    • (2010) Eur J Cancer , vol.46 , Issue.4 , pp. 765-781
    • Ferlay, J.1    Parkin, D.M.2    Steliarova-Foucher, E.3
  • 2
    • 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 C (2001) 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(9291):1389–1399. doi:10.1016/S0140-6736(01)06524-2
    • (2001) Lancet , vol.358 , Issue.9291 , pp. 1389-1399
    • Collaborative Group on Hormonal Factors in Breast, C.1
  • 7
    • 34248170114 scopus 로고    scopus 로고
    • Meta-analysis of BRCA1 and BRCA2 penetrance
    • PID: 17416853
    • Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333. doi:10.1200/JCO.2006.09.1066
    • (2007) J Clin Oncol , vol.25 , Issue.11 , pp. 1329-1333
    • Chen, S.1    Parmigiani, G.2
  • 8
    • 33845654907 scopus 로고    scopus 로고
    • Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada
    • COI: 1:CAS:528:DC%2BD28XhtlCru7nJ, PID: 17148771
    • Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA (2006) Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 98(23):1694–1706. doi:10.1093/jnci/djj465
    • (2006) J Natl Cancer Inst , vol.98 , Issue.23 , pp. 1694-1706
    • Risch, H.A.1    McLaughlin, J.R.2    Cole, D.E.3    Rosen, B.4    Bradley, L.5    Fan, I.6    Tang, J.7    Li, S.8    Zhang, S.9    Shaw, P.A.10    Narod, S.A.11
  • 9
    • 0037685164 scopus 로고    scopus 로고
    • Breast and ovarian cancer
    • COI: 1:CAS:528:DC%2BD3sXkt1Kktrc%3D
    • Wooster R, Weber BL (2003) Breast and ovarian cancer. The New Engl J Med 348(23):2339–2347. doi:10.1056/NEJMra012284
    • (2003) The New Engl J Med , vol.348 , Issue.23 , pp. 2339-2347
    • Wooster, R.1    Weber, B.L.2
  • 10
    • 0035030368 scopus 로고    scopus 로고
    • Breast cancer genetics: what we know and what we need
    • COI: 1:CAS:528:DC%2BD3MXjsVakurs%3D, PID: 11329055
    • Nathanson KL, Wooster R, Weber BL (2001) Breast cancer genetics: what we know and what we need. Nat Med 7(5):552–556. doi:10.1038/87876
    • (2001) Nat Med , vol.7 , Issue.5 , pp. 552-556
    • Nathanson, K.L.1    Wooster, R.2    Weber, B.L.3
  • 11
    • 0036466858 scopus 로고    scopus 로고
    • Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population
    • COI: 1:CAS:528:DC%2BD38XkvFegtg%3D%3D, PID: 11802209
    • Meindl A, German Consortium for Hereditary B, Ovarian C (2002) Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer 97(4):472–480
    • (2002) Int J Cancer , vol.97 , Issue.4 , pp. 472-480
    • Meindl, A.1    German Consortium for Hereditary B, Ovarian, C.2
  • 12
    • 52949096470 scopus 로고    scopus 로고
    • Genetic predisposition to breast cancer: past, present, and future
    • COI: 1:CAS:528:DC%2BD1cXht1SnsbbO, PID: 18544032
    • Turnbull C, Rahman N (2008) Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genomics Hum Genet 9:321–345. doi:10.1146/annurev.genom.9.081307.164339
    • (2008) Annu Rev Genomics Hum Genet , vol.9 , pp. 321-345
    • Turnbull, C.1    Rahman, N.2
  • 13
    • 84876591647 scopus 로고    scopus 로고
    • Hereditary breast cancer: the era of new susceptibility genes
    • PID: 23586058
    • Apostolou P, Fostira F (2013) Hereditary breast cancer: the era of new susceptibility genes. BioMed Res Int 2013:747318. doi:10.1155/2013/747318
    • (2013) BioMed Res Int , vol.2013 , pp. 747318
    • Apostolou, P.1    Fostira, F.2
  • 14
    • 34948864372 scopus 로고    scopus 로고
    • Genetic susceptibility to breast cancer
    • Bradbury AR, Olopade OI (2007) Genetic susceptibility to breast cancer. Rev Endocr Metabol Disord 8(3):255–267. doi:10.1007/s11154-007-9038-0
    • (2007) Rev Endocr Metabol Disord , vol.8 , Issue.3 , pp. 255-267
    • Bradbury, A.R.1    Olopade, O.I.2
  • 15
    • 67349222061 scopus 로고    scopus 로고
    • Breast cancer susceptibility: current knowledge and implications for genetic counselling
    • COI: 1:CAS:528:DC%2BD1MXmtFKnsLg%3D, PID: 19092773
    • Ripperger T, Gadzicki D, Meindl A, Schlegelberger B (2009) Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet 17(6):722–731. doi:10.1038/ejhg.2008.212
    • (2009) Eur J Hum Genet , vol.17 , Issue.6 , pp. 722-731
    • Ripperger, T.1    Gadzicki, D.2    Meindl, A.3    Schlegelberger, B.4
  • 16
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies—the next generation
    • COI: 1:CAS:528:DC%2BD1MXhsFOht7fO, PID: 19997069
    • Metzker ML (2010) Sequencing technologies—the next generation. Nat Rev Genet 11(1):31–46. doi:10.1038/nrg2626
    • (2010) Nat Rev Genet , vol.11 , Issue.1 , pp. 31-46
    • Metzker, M.L.1
  • 18
    • 84920857451 scopus 로고    scopus 로고
    • Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment
    • PID: 25502425
    • Kurian AW, Kingham KE, Ford JM (2015) Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment. Curr Opin Obstet Gynecol 27(1):23–33. doi:10.1097/GCO.0000000000000141
    • (2015) Curr Opin Obstet Gynecol , vol.27 , Issue.1 , pp. 23-33
    • Kurian, A.W.1    Kingham, K.E.2    Ford, J.M.3
  • 19
    • 44949128065 scopus 로고    scopus 로고
    • First revision of the German S3 guideline ‘diagnosis, Therapy, and follow-up of breast cancer’
    • PID: 21373209
    • Wockel A, Kreienberg R (2008) First revision of the German S3 guideline ‘diagnosis, Therapy, and follow-up of breast cancer’. Breast care 3(2):82–86. doi:10.1159/000127509
    • (2008) Breast care , vol.3 , Issue.2 , pp. 82-86
    • Wockel, A.1    Kreienberg, R.2
  • 20
    • 79956307251 scopus 로고    scopus 로고
    • Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads
    • COI: 1:CAS:528:DC%2BC3MXnsFylsrs%3D, PID: 20980556
    • Lunter G, Goodson M (2011) Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads. Genome Res 21(6):936–939. doi:10.1101/gr.111120.110
    • (2011) Genome Res , vol.21 , Issue.6 , pp. 936-939
    • Lunter, G.1    Goodson, M.2
  • 21
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows-Wheeler transform
    • PID: 20080505
    • Li H, Durbin R (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26(5):589–595. doi:10.1093/bioinformatics/btp698
    • (2010) Bioinformatics , vol.26 , Issue.5 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 24
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
    • PID: 20601685
    • Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164. doi:10.1093/nar/gkq603
    • (2010) Nucleic Acids Res , vol.38 , Issue.16 , pp. 164
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 27
    • 55549101314 scopus 로고    scopus 로고
    • Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
    • COI: 1:CAS:528:DC%2BD1cXhsFSjsLnP, PID: 18951446
    • Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV, Group IUGVW (2008) Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 29(11):1282–1291. doi:10.1002/humu.20880
    • (2008) Hum Mutat , vol.29 , Issue.11 , pp. 1282-1291
    • Plon, S.E.1    Eccles, D.M.2    Easton, D.3    Foulkes, W.D.4    Genuardi, M.5    Greenblatt, M.S.6    Hogervorst, F.B.7    Hoogerbrugge, N.8    Spurdle, A.B.9    Tavtigian, S.V.10
  • 30
    • 84922628243 scopus 로고    scopus 로고
    • Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer
    • COI: 1:CAS:528:DC%2BC2MXhtVGmt7c%3D, PID: 25556971
    • Trujillano D, Weiss ME, Schneider J, Koster J, Papachristos EB, Saviouk V, Zakharkina T, Nahavandi N, Kovacevic L, Rolfs A (2015) Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer. J Mol Diagn 17(2):162–170. doi:10.1016/j.jmoldx.2014.11.004
    • (2015) J Mol Diagn , vol.17 , Issue.2 , pp. 162-170
    • Trujillano, D.1    Weiss, M.E.2    Schneider, J.3    Koster, J.4    Papachristos, E.B.5    Saviouk, V.6    Zakharkina, T.7    Nahavandi, N.8    Kovacevic, L.9    Rolfs, A.10
  • 35
    • 77955439715 scopus 로고    scopus 로고
    • Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    • COI: 1:CAS:528:DC%2BC3cXpt1ehsr0%3D, PID: 20616022
    • Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC (2010) Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA 107(28):12629–12633. doi:10.1073/pnas.1007983107
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.28 , pp. 12629-12633
    • Walsh, T.1    Lee, M.K.2    Casadei, S.3    Thornton, A.M.4    Stray, S.M.5    Pennil, C.6    Nord, A.S.7    Mandell, J.B.8    Swisher, E.M.9    King, M.C.10
  • 37
    • 84901328103 scopus 로고    scopus 로고
    • The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay
    • PID: 24830819
    • Chong HK, Wang T, Lu HM, Seidler S, Lu H, Keiles S, Chao EC, Stuenkel AJ, Li X, Elliott AM (2014) The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay. PLoS ONE 9(5):e97408. doi:10.1371/journal.pone.0097408
    • (2014) PLoS ONE , vol.9 , Issue.5 , pp. 97408
    • Chong, H.K.1    Wang, T.2    Lu, H.M.3    Seidler, S.4    Lu, H.5    Keiles, S.6    Chao, E.C.7    Stuenkel, A.J.8    Li, X.9    Elliott, A.M.10
  • 38
    • 84937511219 scopus 로고    scopus 로고
    • Rapid and cost effective screening of breast and ovarian cancer genes using novel sequence capture method in clinical samples
    • COI: 1:CAS:528:DC%2BC2cXosFaqsbk%3D, PID: 24853695
    • Arvai K, Horvath P, Balla B, Tokes AM, Tobias B, Takacs I, Nagy Z, Lakatos P, Kosa JP (2014) Rapid and cost effective screening of breast and ovarian cancer genes using novel sequence capture method in clinical samples. Fam Cancer 13(4):583–589. doi:10.1007/s10689-014-9730-7
    • (2014) Fam Cancer , vol.13 , Issue.4 , pp. 583-589
    • Arvai, K.1    Horvath, P.2    Balla, B.3    Tokes, A.M.4    Tobias, B.5    Takacs, I.6    Nagy, Z.7    Lakatos, P.8    Kosa, J.P.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.