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Volumn 14, Issue 5, 2010, Pages 677-690

A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMPLICON; ARTICLE; BASE MISPAIRING; BREAST CANCER; CLINICAL ASSESSMENT; COMPARATIVE GENOMIC HYBRIDIZATION; EXON; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MELTING POINT; ONCOGENE; OVARY CANCER; POINT MUTATION; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDY; QUANTITATIVE ANALYSIS; RELIABILITY; RETROSPECTIVE STUDY; SENSITIVITY ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE;

EID: 78650135064     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0183     Document Type: Article
Times cited : (17)

References (24)
  • 1
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies
    • Antoniou A, Pharoah PD, Narod S, et al. (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117-1130.
    • (2003) Am J Hum Genet , vol.72 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.2    Narod, S.3
  • 2
    • 34548107829 scopus 로고    scopus 로고
    • The contribution of germline rearrangements to the spectrum of BRCA2 mutations
    • Casilli F, Tournier I, Sinilnikova OM, et al. (2006) The contribution of germline rearrangements to the spectrum of BRCA2 mutations. J Med Genet 43:e49.
    • (2006) J Med Genet , vol.43
    • Casilli, F.1    Tournier, I.2    Sinilnikova, O.M.3
  • 3
    • 0031038324 scopus 로고    scopus 로고
    • Slowly but surely towards better scanning for mutations
    • Cotton RG (1997) Slowly but surely towards better scanning for mutations. Trends Genet 13:43-46.
    • (1997) Trends Genet , vol.13 , pp. 43-46
    • Cotton, R.G.1
  • 4
    • 53849136233 scopus 로고    scopus 로고
    • New sequence variants in BRCA1 and BRCA2 genes detected by high-resolution melting analysis in an elderly healthy female population in Croatia
    • Cvok ML, Cretnik M, Musani V, et al. (2008) New sequence variants in BRCA1 and BRCA2 genes detected by high-resolution melting analysis in an elderly healthy female population in Croatia. Clin Chem Lab Med 46:1376-1383.
    • (2008) Clin Chem Lab Med , vol.46 , pp. 1376-1383
    • Cvok, M.L.1    Cretnik, M.2    Musani, V.3
  • 5
    • 67349100169 scopus 로고    scopus 로고
    • High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations
    • De Juan I, Esteban E, Palanca S, et al. (2009) High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations. Breast Cancer Res Treat 115:405-414.
    • (2009) Breast Cancer Res Treat , vol.115 , pp. 405-414
    • De Juan, I.1    Esteban, E.2    Palanca, S.3
  • 6
    • 44849123232 scopus 로고    scopus 로고
    • Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: Comparison of two high-resolution melting platforms
    • De Leeneer K, Coene I, Poppe B, et al. (2008) Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms. Clin Chem 54:982-989.
    • (2008) Clin Chem , vol.54 , pp. 982-989
    • De Leeneer, K.1    Coene, I.2    Poppe, B.3
  • 7
    • 70249138056 scopus 로고    scopus 로고
    • Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: A supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden
    • De Leeneer K, Coene I, Poppe B, et al. (2009) Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden. J Mol Diagn 11:415-419.
    • (2009) J Mol Diagn , vol.11 , pp. 415-419
    • De Leeneer, K.1    Coene, I.2    Poppe, B.3
  • 8
    • 0027385041 scopus 로고
    • Detection of sequence variations in the human insulin-receptor gene by parallel denaturing gradient gel electrophoresis
    • Desbois C, Magre J, Blanquet V, et al. (1993) Detection of sequence variations in the human insulin-receptor gene by parallel denaturing gradient gel electrophoresis. Hum Mutat 2:395-403.
    • (1993) Hum Mutat , vol.2 , pp. 395-403
    • Desbois, C.1    Magre, J.2    Blanquet, V.3
  • 9
    • 34249717959 scopus 로고    scopus 로고
    • Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: A systematic review
    • Gerhardus A, Schleberger H, Schlegelberger B, et al. (2007) Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. Eur J Hum Genet 15:619-627.
    • (2007) Eur J Hum Genet , vol.15 , pp. 619-627
    • Gerhardus, A.1    Schleberger, H.2    Schlegelberger, B.3
  • 10
    • 45549101581 scopus 로고    scopus 로고
    • Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons
    • Gundry CM, Dobrowolski SF, Martin YR, et al. (2008) Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons. Nucleic Acids Res 36:3401-3408.
    • (2008) Nucleic Acids Res , vol.36 , pp. 3401-3408
    • Gundry, C.M.1    Dobrowolski, S.F.2    Martin, Y.R.3
  • 11
    • 18744401644 scopus 로고    scopus 로고
    • Genomic rearrangements in the BRCA1 and BRCA2 genes
    • Mazoyer S (2005) Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat 25:415-422.
    • (2005) Hum Mutat , vol.25 , pp. 415-422
    • Mazoyer, S.1
  • 13
    • 58849092856 scopus 로고    scopus 로고
    • The c.156-157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal
    • Peixoto A, Santos C, Rocha P, et al. (2009) The c.156-157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal. Breast Cancer Res Treat 114:31-38.
    • (2009) Breast Cancer Res Treat , vol.114 , pp. 31-38
    • Peixoto, A.1    Santos, C.2    Rocha, P.3
  • 14
    • 17344392308 scopus 로고    scopus 로고
    • A new mathematical model for relative quantification in real-time RT-PCR
    • Pfaffl MW (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29:e45.
    • (2001) Nucleic Acids Res , vol.29
    • Pfaffl, M.W.1
  • 15
    • 34250658870 scopus 로고    scopus 로고
    • High-resolution DNA melting analysis for simple and efficient molecular diagnostics
    • Reed GH, Kent JO, Wittwer CT (2007) High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 8:597-608.
    • (2007) Pharmacogenomics , vol.8 , pp. 597-608
    • Reed, G.H.1    Kent, J.O.2    Wittwer, C.T.3
  • 16
    • 34447340945 scopus 로고    scopus 로고
    • Clinical practice. Management of an inherited predisposition to breast cancer
    • Robson M, Offit K (2007) Clinical practice. Management of an inherited predisposition to breast cancer. N Engl J Med 357:154-162.
    • (2007) N Engl J Med , vol.357 , pp. 154-162
    • Robson, M.1    Offit, K.2
  • 17
    • 66349098335 scopus 로고    scopus 로고
    • Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: Application to MLH1 germline mutations in Lynch syndrome
    • Rouleau E, Lefol C, Bourdon V, et al. (2009) Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome. Hum Mutat 30:867-875.
    • (2009) Hum Mutat , vol.30 , pp. 867-875
    • Rouleau, E.1    Lefol, C.2    Bourdon, V.3
  • 18
    • 34548125297 scopus 로고    scopus 로고
    • High-resolution oligo-nucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1
    • Rouleau E, Lefol C, Tozlu S, et al. (2007) High-resolution oligo-nucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1. Clin Genet 72:199-207.
    • (2007) Clin Genet , vol.72 , pp. 199-207
    • Rouleau, E.1    Lefol, C.2    Tozlu, S.3
  • 19
    • 40749117206 scopus 로고    scopus 로고
    • Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis
    • Takano EA, Mitchell G, Fox SB, et al. (2008) Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis. BMC Cancer 8:59.
    • (2008) BMC Cancer , vol.8 , pp. 59
    • Takano, E.A.1    Mitchell, G.2    Fox, S.B.3
  • 20
    • 33646035105 scopus 로고    scopus 로고
    • De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes
    • Teugels E, De Brakeleer S, Goelen G, et al. (2005) De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes. Hum Mutat 26:284.
    • (2005) Hum Mutat , vol.26 , pp. 284
    • Teugels, E.1    De Brakeleer, S.2    Goelen, G.3
  • 21
    • 0033572622 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations
    • Wagner T, Stoppa-Lyonnet D, Fleischmann E, et al. (1999) Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 62:369-376.
    • (1999) Genomics , vol.62 , pp. 369-376
    • Wagner, T.1    Stoppa-Lyonnet, D.2    Fleischmann, E.3
  • 22
    • 37149053418 scopus 로고    scopus 로고
    • High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE
    • Weber J, Miserere S, Champ J, et al. (2007) High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE. Electrophoresis 28:4282-4288.
    • (2007) Electrophoresis , vol.28 , pp. 4282-4288
    • Weber, J.1    Miserere, S.2    Champ, J.3
  • 23
    • 0038359432 scopus 로고    scopus 로고
    • High-resolution genotyping by amplicon melting analysis using LCGreen
    • Wittwer CT, Reed GH, Gundry CN, et al. (2003) High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 49(6 Pt 1):853-860.
    • (2003) Clin Chem , vol.49 , Issue.6 PART 1 , pp. 853-860
    • Wittwer, C.T.1    Reed, G.H.2    Gundry, C.N.3
  • 24
    • 0006713602 scopus 로고
    • Identification of the breast cancer susceptibility gene BRCA2
    • Wooster R, Bignell G, Lancaster J, et al. (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792.
    • (1995) Nature , vol.378 , pp. 789-792
    • Wooster, R.1    Bignell, G.2    Lancaster, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.