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Volumn 11, Issue , 2011, Pages

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYINOSINE; DNA; PRIMER DNA;

EID: 79959389584     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-11-265     Document Type: Article
Times cited : (29)

References (40)
  • 6
    • 46449112497 scopus 로고    scopus 로고
    • Hereditary breast cancer: pathobiology, clinical translation, and potential for targeted cancer therapeutics
    • 10.1007/s10689-007-9147-7, 17624601
    • Rubinstein WS. Hereditary breast cancer: pathobiology, clinical translation, and potential for targeted cancer therapeutics. Fam Cancer 2008, 7:83-89. 10.1007/s10689-007-9147-7, 17624601.
    • (2008) Fam Cancer , vol.7 , pp. 83-89
    • Rubinstein, W.S.1
  • 7
    • 24144499879 scopus 로고    scopus 로고
    • A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model
    • 10.1309/BF3MLJN8J527MWQY, 16191501
    • Chou LS, Lyon E, Wittwer CT. A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. Am J Clin Pathol 2005, 124:330-338. 10.1309/BF3MLJN8J527MWQY, 16191501.
    • (2005) Am J Clin Pathol , vol.124 , pp. 330-338
    • Chou, L.S.1    Lyon, E.2    Wittwer, C.T.3
  • 9
    • 4644245816 scopus 로고    scopus 로고
    • Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis
    • 10.1373/clinchem.2003.029751, 15308590
    • Reed GH, Wittwer CT. Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis. Clin Chem 2004, 50:1748-1754. 10.1373/clinchem.2003.029751, 15308590.
    • (2004) Clin Chem , vol.50 , pp. 1748-1754
    • Reed, G.H.1    Wittwer, C.T.2
  • 10
    • 35648961269 scopus 로고    scopus 로고
    • Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis
    • 10.1373/clinchem.2007.092361, 17890437
    • Montgomery J, Wittwer CT, Kent JO, Zhou L. Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis. Clin Chem 2007, 53:1891-1898. 10.1373/clinchem.2007.092361, 17890437.
    • (2007) Clin Chem , vol.53 , pp. 1891-1898
    • Montgomery, J.1    Wittwer, C.T.2    Kent, J.O.3    Zhou, L.4
  • 11
    • 0036195225 scopus 로고    scopus 로고
    • DHPLC screening of cystic fibrosis gene mutations
    • 10.1002/humu.10065, 11933191
    • Ravnik-Glavac M, Atkinson A, Glavac D, Dean M. DHPLC screening of cystic fibrosis gene mutations. Hum Mutat 2002, 19:374-83. 10.1002/humu.10065, 11933191.
    • (2002) Hum Mutat , vol.19 , pp. 374-383
    • Ravnik-Glavac, M.1    Atkinson, A.2    Glavac, D.3    Dean, M.4
  • 12
    • 79960890649 scopus 로고    scopus 로고
    • The Poland thermal denaturation profile program
    • The Poland thermal denaturation profile program. , http://www.biophys.uni-duesseldorf.de/local/POLAND//poland.html
  • 13
    • 0038359432 scopus 로고    scopus 로고
    • High-resolution genotyping by amplicon melting analysis using LCGreen
    • 10.1373/49.6.853, 12765979
    • Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ. High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 2003, 49:853-60. 10.1373/49.6.853, 12765979.
    • (2003) Clin Chem , vol.49 , pp. 853-860
    • Wittwer, C.T.1    Reed, G.H.2    Gundry, C.N.3    Vandersteen, J.G.4    Pryor, R.J.5
  • 14
    • 34250658870 scopus 로고    scopus 로고
    • High-resolution DNA melting analysis for simple and efficient molecular diagnostics
    • 10.2217/14622416.8.6.597, 17559349
    • Reed GH, Kent JO, Wittwer CT. High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 2007, 8:597-608. 10.2217/14622416.8.6.597, 17559349.
    • (2007) Pharmacogenomics , vol.8 , pp. 597-608
    • Reed, G.H.1    Kent, J.O.2    Wittwer, C.T.3
  • 15
    • 34250633774 scopus 로고    scopus 로고
    • Expanded Instrument Comparison of Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping
    • 10.1373/clinchem.2007.088120, 17556647
    • Herrmann MG, Durtschi JD, Wittwer CT, Voelkerding KV. Expanded Instrument Comparison of Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping. Clin Chem 2007, 53:1544-1548. 10.1373/clinchem.2007.088120, 17556647.
    • (2007) Clin Chem , vol.53 , pp. 1544-1548
    • Herrmann, M.G.1    Durtschi, J.D.2    Wittwer, C.T.3    Voelkerding, K.V.4
  • 16
    • 84888277272 scopus 로고    scopus 로고
    • Oligo Calc: Oligonucleotide Properties Calculator
    • Oligo Calc: Oligonucleotide Properties Calculator. , http://www.basic.northwestern.edu/biotools/oligocalc.html
  • 17
    • 79960892138 scopus 로고    scopus 로고
    • Amplify 3 program for MacOS X
    • Amplify 3 program for MacOS X. , http://engels.genetics.wisc.edu/amplify/
  • 18
    • 79960894320 scopus 로고    scopus 로고
    • NHGRI Breast Cancer Information Core Database
    • NHGRI Breast Cancer Information Core Database. , http://research.nhgri.nih.gov/bic/
  • 19
    • 0035065040 scopus 로고    scopus 로고
    • Apparent human BRCA1 knockout caused by mispriming during polymerase chain reaction: implications for genetic testing
    • 10.1002/gcc.1122, 11284041
    • Kuschel B, Gayther SA, Easton DF, Ponder BA, Pharoah PD. Apparent human BRCA1 knockout caused by mispriming during polymerase chain reaction: implications for genetic testing. Genes Chromosomes Cancer 2001, 31:96-98. 10.1002/gcc.1122, 11284041.
    • (2001) Genes Chromosomes Cancer , vol.31 , pp. 96-98
    • Kuschel, B.1    Gayther, S.A.2    Easton, D.F.3    Ponder, B.A.4    Pharoah, P.D.5
  • 20
    • 0036021041 scopus 로고    scopus 로고
    • A cautionary note: false homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
    • 10.1038/sj.ejhg.5200821, 12080393
    • Solano AR, Dourisboure RJ, Weitzel J, Podesta EJ. A cautionary note: false homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele. Eur J Hum Genet 2002, 10:395-397. 10.1038/sj.ejhg.5200821, 12080393.
    • (2002) Eur J Hum Genet , vol.10 , pp. 395-397
    • Solano, A.R.1    Dourisboure, R.J.2    Weitzel, J.3    Podesta, E.J.4
  • 21
    • 79960893790 scopus 로고    scopus 로고
    • Single Nucleotide Polymorphism BLAST
    • Single Nucleotide Polymorphism BLAST. , http://www.ncbi.nlm.nih.gov/SNP/snpblastByChr.html
  • 23
    • 0030329721 scopus 로고    scopus 로고
    • Direct sequencing with highly degenerate and inosine-containing primers
    • Shen Z, Liu J, Wells RL, Elkind MM. Direct sequencing with highly degenerate and inosine-containing primers. Methods Mol Biol 1996, 65:111-118.
    • (1996) Methods Mol Biol , vol.65 , pp. 111-118
    • Shen, Z.1    Liu, J.2    Wells, R.L.3    Elkind, M.M.4
  • 24
    • 76449109526 scopus 로고    scopus 로고
    • Validation of a primer optimisation matrix to improve the performance of reverse transcription-quantitative real-time PCR assays
    • 10.1186/1756-0500-2-112, 2706253, 19549292
    • Mikeska T, Dobrovic A. Validation of a primer optimisation matrix to improve the performance of reverse transcription-quantitative real-time PCR assays. BMC Res Notes 2009, 2:112. 10.1186/1756-0500-2-112, 2706253, 19549292.
    • (2009) BMC Res Notes , vol.2 , pp. 112
    • Mikeska, T.1    Dobrovic, A.2
  • 25
    • 66349115872 scopus 로고    scopus 로고
    • Diagnostic Guidelines for High-Resolution Melting Curve (HRM) Analysis: An Interlaboratory Validation of BRCA1 Mutation Scanning Using the 96-Well LightScannerTM
    • 10.1002/humu.21004, 19370767
    • Van der Stoep N, van Paridon CDM, Janssens T, Krenkova P, Stambergova A, Macek M, Matthijs G, Bakker E. Diagnostic Guidelines for High-Resolution Melting Curve (HRM) Analysis: An Interlaboratory Validation of BRCA1 Mutation Scanning Using the 96-Well LightScannerTM. Hum Mutat 2009, 30:899-909. 10.1002/humu.21004, 19370767.
    • (2009) Hum Mutat , vol.30 , pp. 899-909
    • Van der Stoep, N.1    van Paridon, C.D.M.2    Janssens, T.3    Krenkova, P.4    Stambergova, A.5    Macek, M.6    Matthijs, G.7    Bakker, E.8
  • 26
    • 44849123232 scopus 로고    scopus 로고
    • Rapid and Sensitive Detection of BRCA1/2 Mutations in a Diagnostic Setting: Comparison of Two High-Resolution Melting Platforms
    • 10.1373/clinchem.2007.098764, 18403564
    • De Leeneer K, Coene I, Poppe B, De Paepe A, Claes K. Rapid and Sensitive Detection of BRCA1/2 Mutations in a Diagnostic Setting: Comparison of Two High-Resolution Melting Platforms. Clin Chem 2008, 54:982-989. 10.1373/clinchem.2007.098764, 18403564.
    • (2008) Clin Chem , vol.54 , pp. 982-989
    • De Leeneer, K.1    Coene, I.2    Poppe, B.3    De Paepe, A.4    Claes, K.5
  • 27
    • 67349100169 scopus 로고    scopus 로고
    • High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations
    • 10.1007/s10549-008-0073-7, 18528753
    • de Juan I, Esteban E, Palanca S, Barragán E, Bolufer P. High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations. Breast Cancer Res Treat 2009, 115:405-414. 10.1007/s10549-008-0073-7, 18528753.
    • (2009) Breast Cancer Res Treat , vol.115 , pp. 405-414
    • de Juan, I.1    Esteban, E.2    Palanca, S.3    Barragán, E.4    Bolufer, P.5
  • 28
    • 33847407062 scopus 로고    scopus 로고
    • Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease
    • Kennerson ML, Warburton T, Nelis E, Brewer M, Polly P, De Jonghe P, Timmerman V, Nicholson GA. Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clin Chem 2007, 53:349-352.
    • (2007) Clin Chem , vol.53 , pp. 349-352
    • Kennerson, M.L.1    Warburton, T.2    Nelis, E.3    Brewer, M.4    Polly, P.5    De Jonghe, P.6    Timmerman, V.7    Nicholson, G.A.8
  • 29
    • 77955803979 scopus 로고    scopus 로고
    • Application of high-resolution melting to large-scale, high-throughput SNP genotyping: a comparison with the TaqMan method
    • 10.1177/1087057110365900, 20371868
    • Martino A, Mancuso T, Rossi AM. Application of high-resolution melting to large-scale, high-throughput SNP genotyping: a comparison with the TaqMan method. J Biomol Screen 2010, 15:623-629. 10.1177/1087057110365900, 20371868.
    • (2010) J Biomol Screen , vol.15 , pp. 623-629
    • Martino, A.1    Mancuso, T.2    Rossi, A.M.3
  • 30
    • 77949430843 scopus 로고    scopus 로고
    • High-resolution DNA melting analysis in clinical research and diagnostics
    • 10.1586/erm.09.84, 20214540
    • Montgomery JL, Sanford LN, Wittwer CT. High-resolution DNA melting analysis in clinical research and diagnostics. Expert Rev Mol Diagn 2010, 10:219-240. 10.1586/erm.09.84, 20214540.
    • (2010) Expert Rev Mol Diagn , vol.10 , pp. 219-240
    • Montgomery, J.L.1    Sanford, L.N.2    Wittwer, C.T.3
  • 32
    • 32544459416 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutation screening using SmartCycler II high-resolution melt curve analysis
    • Dufresne SD, Belloni DR, Wells WA, Tsongalis GJ. BRCA1 and BRCA2 mutation screening using SmartCycler II high-resolution melt curve analysis. Arch Pathol Lab Med 2006, 130:185-187.
    • (2006) Arch Pathol Lab Med , vol.130 , pp. 185-187
    • Dufresne, S.D.1    Belloni, D.R.2    Wells, W.A.3    Tsongalis, G.J.4
  • 33
    • 40749117206 scopus 로고    scopus 로고
    • Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis
    • 10.1186/1471-2407-8-59, 2266761, 18298804
    • Takano EA, Mitchell G, Fox SB, Dobrovic A. Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis. BMC Cancer 2008, 8:59. 10.1186/1471-2407-8-59, 2266761, 18298804.
    • (2008) BMC Cancer , vol.8 , pp. 59
    • Takano, E.A.1    Mitchell, G.2    Fox, S.B.3    Dobrovic, A.4
  • 34
    • 72749089581 scopus 로고    scopus 로고
    • Mutation Scanning of exon 20 of the BRCA1 gene by high-resolution melting curve analysis
    • Vorkas PA, Christopoulos K, Kroupis C, Lianidou ES. Mutation Scanning of exon 20 of the BRCA1 gene by high-resolution melting curve analysis. Clin Biochem 2009, 43:178-185.
    • (2009) Clin Biochem , vol.43 , pp. 178-185
    • Vorkas, P.A.1    Christopoulos, K.2    Kroupis, C.3    Lianidou, E.S.4
  • 37
    • 25444491205 scopus 로고    scopus 로고
    • High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution
    • 10.1373/clinchem.2005.054924, 16189378
    • Zhou L, Wang L, Palais R, Pryor R, Wittwer CT. High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution. Clin Chem 2005, 51:1770-1777. 10.1373/clinchem.2005.054924, 16189378.
    • (2005) Clin Chem , vol.51 , pp. 1770-1777
    • Zhou, L.1    Wang, L.2    Palais, R.3    Pryor, R.4    Wittwer, C.T.5
  • 38
    • 70249138056 scopus 로고    scopus 로고
    • Technical Advance Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes
    • 10.2353/jmoldx.2009.090032, 2729838, 19644020
    • De Leeneer K, Coene I, Poppe B, De Paepe A, Claes K. Technical Advance Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes. J Mol Diagn 2009, 11:415-419. 10.2353/jmoldx.2009.090032, 2729838, 19644020.
    • (2009) J Mol Diagn , vol.11 , pp. 415-419
    • De Leeneer, K.1    Coene, I.2    Poppe, B.3    De Paepe, A.4    Claes, K.5
  • 39
    • 33846641709 scopus 로고    scopus 로고
    • High resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples: KRAS codon 12 and 13 mutations in non-small cell lung cancer
    • 10.1186/1471-2407-6-295, 1769510, 17184525
    • Krypuy M, Newnham GM, Thomas DM, Conron M, Dobrovic A. High resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples: KRAS codon 12 and 13 mutations in non-small cell lung cancer. BMC Cancer 2006, 6:295. 10.1186/1471-2407-6-295, 1769510, 17184525.
    • (2006) BMC Cancer , vol.6 , pp. 295
    • Krypuy, M.1    Newnham, G.M.2    Thomas, D.M.3    Conron, M.4    Dobrovic, A.5


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