메뉴 건너뛰기




Volumn 2, Issue 2, 2014, Pages 186-200

A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes

Author keywords

Amplicon sequencing; Diagnostics; Hereditary colorectal cancer; Massive parallel sequencing; Mismatch repair; MLH1; MSH2; MSH6; PMS2

Indexed keywords


EID: 84939552146     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.62     Document Type: Article
Times cited : (12)

References (34)
  • 2
    • 55949095205 scopus 로고    scopus 로고
    • Keeping up with the next generation: Massively parallel sequencing in clinical diagnostics
    • ten Bosch, J. R., and W. W. Grody. 2008. Keeping up with the next generation: massively parallel sequencing in clinical diagnostics. J. Mol. Diagn. 10:484–492.
    • (2008) J. Mol. Diagn. , vol.10 , pp. 484-492
    • Ten Bosch, J.R.1    Grody, W.W.2
  • 3
    • 80055113946 scopus 로고    scopus 로고
    • Anticipation in Lynch syndrome: Where we are where we go
    • Bozzao, C., P. Lastella, and A. Stella. 2011. Anticipation in Lynch syndrome: where we are where we go. Curr. Genomics 12:451–465.
    • (2011) Curr. Genomics , vol.12 , pp. 451-465
    • Bozzao, C.1    Lastella, P.2    Stella, A.3
  • 4
    • 73449142861 scopus 로고    scopus 로고
    • DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: Neurofibromatosis type 1 gene as a model
    • Chou, L. S., C. S. Liu, B. Boese, X. Zhang, and R. Mao. 2010. DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model. Clin. Chem. 56:62–72.
    • (2010) Clin. Chem. , vol.56 , pp. 62-72
    • Chou, L.S.1    Liu, C.S.2    Boese, B.3    Zhang, X.4    Mao, R.5
  • 5
    • 80053590678 scopus 로고    scopus 로고
    • Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics
    • De Leeneer, K., J. De Schrijver, L. Clement, M. Baetens, S. Lefever, S. De Keulenaer, et al. 2011a. Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics. PLoS One 6:e25531.
    • (2011) Plos One , vol.6
    • de Leeneer, K.1    de Schrijver, J.2    Clement, L.3    Baetens, M.4    Lefever, S.5    de Keulenaer, S.6
  • 6
    • 79951805438 scopus 로고    scopus 로고
    • Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: Opportunities, challenges, and limitations
    • De Leeneer, K., J. Hellemans, J. De Schrijver, M. Baetens, B. Poppe, W. Van Criekinge, et al. 2011b. Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. Hum. Mutat. 32:335–344.
    • (2011) Hum. Mutat. , vol.32 , pp. 335-344
    • de Leeneer, K.1    Hellemans, J.2    de Schrijver, J.3    Baetens, M.4    Poppe, B.5    van Criekinge, W.6
  • 7
    • 2342506542 scopus 로고    scopus 로고
    • Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome
    • De Vos, M., B. E. Hayward, S. Picton, E. Sheridan, and D. T. Bonthron. 2004. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am. J. Hum. Genet. 74:954–964.
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 954-964
    • de Vos, M.1    Hayward, B.E.2    Picton, S.3    Sheridan, E.4    Bonthron, D.T.5
  • 8
    • 38949127061 scopus 로고    scopus 로고
    • RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference
    • Etzler, J., A. Peyrl, A. Zatkova, H. U. Schildhaus, A. Ficek, S. Merkelbach-Bruse, et al. 2008. RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. Hum. Mutat. 29:299–305.
    • (2008) Hum. Mutat. , vol.29 , pp. 299-305
    • Etzler, J.1    Peyrl, A.2    Zatkova, A.3    Schildhaus, H.U.4    Ficek, A.5    Merkelbach-Bruse, S.6
  • 9
    • 84880922809 scopus 로고    scopus 로고
    • Next-generation sequencing meets genetic diagnostics: Development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes
    • Feliubadalo, L., A. Lopez-Doriga, E. Castellsague, J. Del Valle, M. Menendez, E. Tornero, et al. 2012. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. Eur. J. Hum. Genet. 21:864–870.
    • (2012) Eur. J. Hum. Genet. , vol.21 , pp. 864-870
    • Feliubadalo, L.1    Lopez-Doriga, A.2    Castellsague, E.3    Del Valle, J.4    Menendez, M.5    Tornero, E.6
  • 10
    • 59849113821 scopus 로고    scopus 로고
    • Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
    • Gnirke,A.,A.Melnikov,J.Maguire,P.Rogov,E.M. LeProust, W. Brockman, et al. 2009. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat. Biotechnol. 27:182–189.
    • (2009) Nat. Biotechnol. , vol.27 , pp. 182-189
    • Gnirke, A.1    Melnikov, A.2    Maguire, J.3    Rogov, P.4    Leproust, E.M.5    Brockman, W.6
  • 11
    • 57449097359 scopus 로고    scopus 로고
    • Feasibility of screening for Lynch syndrome among patients with colorectal cancer
    • Hampel, H., W. L. Frankel, E. Martin, M. Arnold, K. Khanduja, P. Kuebler, et al. 2008. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J. Clin. Oncol. 26:5783–5788.
    • (2008) J. Clin. Oncol. , vol.26 , pp. 5783-5788
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3    Arnold, M.4    Khanduja, K.5    Kuebler, P.6
  • 13
    • 84859574256 scopus 로고    scopus 로고
    • Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing
    • Hernan, I., E. Borras, D. M. de Sousa, M. J. Gamundi, B. Mane, G. Llort, et al. 2012. Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing. J. Mol. Diagn. 14:286–293.
    • (2012) J. Mol. Diagn. , vol.14 , pp. 286-293
    • Hernan, I.1    Borras, E.2    de Sousa, D.M.3    Gamundi, M.J.4    Mane, B.5    Llort, G.6
  • 15
    • 84857691276 scopus 로고    scopus 로고
    • Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer
    • Jiang, Q., T. Turner, M. X. Sosa, A. Rakha, S. Arnold, and A. Chakravarti. 2012. Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer. Hum. Mutat. 33:281–289.
    • (2012) Hum. Mutat. , vol.33 , pp. 281-289
    • Jiang, Q.1    Turner, T.2    Sosa, M.X.3    Rakha, A.4    Arnold, S.5    Chakravarti, A.6
  • 17
    • 24044455869 scopus 로고    scopus 로고
    • Genome sequencing in microfabricated high-density picolitre reactors
    • Margulies, M., M. Egholm, W. E. Altman, S. Attiya, J. S. Bader, L. A. Bemben, et al. 2005. Genome sequencing in microfabricated high-density picolitre reactors. Nature 437:376–380.
    • (2005) Nature , vol.437 , pp. 376-380
    • Margulies, M.1    Egholm, M.2    Altman, W.E.3    Attiya, S.4    Bader, J.S.5    Bemben, L.A.6
  • 18
    • 78549273639 scopus 로고    scopus 로고
    • A standardized framework for the validation and verification of clinical molecular genetic tests
    • Mattocks, C. J., M. A. Morris, G. Matthijs, E. Swinnen, A. Corveleyn, E. Dequeker, et al. 2010. A standardized framework for the validation and verification of clinical molecular genetic tests. Eur. J. Hum. Genet. 18:1276–1288.
    • (2010) Eur. J. Hum. Genet. , vol.18 , pp. 1276-1288
    • Mattocks, C.J.1    Morris, M.A.2    Matthijs, G.3    Swinnen, E.4    Corveleyn, A.5    Dequeker, E.6
  • 19
    • 84867404095 scopus 로고    scopus 로고
    • Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing
    • Michils, G., S. Hollants, L. Dehaspe, J. Van Houdt, Y. Bidet, N. Uhrhammer, et al. 2012. Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing. J. Mol. Diagn. 14:623–630.
    • (2012) J. Mol. Diagn. , vol.14 , pp. 623-630
    • Michils, G.1    Hollants, S.2    Dehaspe, L.3    van Houdt, J.4    Bidet, Y.5    Uhrhammer, N.6
  • 20
    • 77955059918 scopus 로고    scopus 로고
    • Genetic diagnosis of familial breast cancer using clonal sequencing
    • Morgan, J. E., I. M. Carr, E. Sheridan, C. E. Chu, B. Hayward, N. Camm, et al. 2010. Genetic diagnosis of familial breast cancer using clonal sequencing. Hum. Mutat. 31:484–491.
    • (2010) Hum. Mutat. , vol.31 , pp. 484-491
    • Morgan, J.E.1    Carr, I.M.2    Sheridan, E.3    Chu, C.E.4    Hayward, B.5    Camm, N.6
  • 21
    • 3142748325 scopus 로고    scopus 로고
    • Mismatch repair gene PMS2: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation
    • Nakagawa, H., J. C. Lockman, W. L. Frankel, H. Hampel, K. Steenblock, L. J. Burgart, et al. 2004. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res. 64:4721–4727.
    • (2004) Cancer Res , vol.64 , pp. 4721-4727
    • Nakagawa, H.1    Lockman, J.C.2    Frankel, W.L.3    Hampel, H.4    Steenblock, K.5    Burgart, L.J.6
  • 23
    • 24144463165 scopus 로고    scopus 로고
    • Lynch syndrome genes
    • Peltomaki, P. 2005. Lynch syndrome genes. Fam. Cancer 4:227–232.
    • (2005) Fam. Cancer , vol.4 , pp. 227-232
    • Peltomaki, P.1
  • 24
    • 55549101314 scopus 로고    scopus 로고
    • Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results
    • Plon, S. E., D. M. Eccles, D. Easton, W. D. Foulkes, M. Genuardi, M. S. Greenblatt, et al. 2008. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum. Mutat. 29:1282–1291.
    • (2008) Hum. Mutat. , vol.29 , 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
  • 25
    • 53649100100 scopus 로고    scopus 로고
    • The development and impact of 454 sequencing
    • Rothberg, J. M., and J. H. Leamon. 2008. The development and impact of 454 sequencing. Nat. Biotechnol. 26:1117–1124.
    • (2008) Nat. Biotechnol. , vol.26 , pp. 1117-1124
    • Rothberg, J.M.1    Leamon, J.H.2
  • 27
    • 77956127299 scopus 로고    scopus 로고
    • Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers
    • Sjursen, W., B. I. Haukanes, E. M. Grindedal, H. Aarset, A. Stormorken, L. F. Engebretsen, et al. 2010. Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. J. Med. Genet. 47:579–585.
    • (2010) J. Med. Genet. , vol.47 , pp. 579-585
    • Sjursen, W.1    Haukanes, B.I.2    Grindedal, E.M.3    Aarset, H.4    Stormorken, A.5    Engebretsen, L.F.6
  • 28
    • 77953614990 scopus 로고    scopus 로고
    • Clinical relevance of rare germline sequence variants in cancer genes: Evolution and application of classification models
    • Spurdle, A. B. 2010. Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models. Curr. Opin. Genet. Dev. 20:315–323.
    • (2010) Curr. Opin. Genet. Dev. , vol.20 , pp. 315-323
    • Spurdle, A.B.1
  • 29
    • 21144439147 scopus 로고    scopus 로고
    • Assessing computational tools for the discovery of transcription factor binding sites
    • Tompa, M., N. Li, T. L. Bailey, G. M. Church, B. De Moor, E. Eskin, et al. 2005. Assessing computational tools for the discovery of transcription factor binding sites. Nat. Biotechnol. 23:137–144.
    • (2005) Nat. Biotechnol. , vol.23 , pp. 137-144
    • Tompa, M.1    Li, N.2    Bailey, T.L.3    Church, G.M.4    de Moor, B.5    Eskin, E.6
  • 30
    • 76349100948 scopus 로고    scopus 로고
    • Performance of clinical guidelines compared with molecular tumour screening methods in identifying possible Lynch syndrome among colorectal cancer patients: A Norwegian population-based study
    • Trano, G., W. Sjursen, H. H. Wasmuth, E. Hofsli, and L. J. Vatten. 2010. Performance of clinical guidelines compared with molecular tumour screening methods in identifying possible Lynch syndrome among colorectal cancer patients: a Norwegian population-based study. Br. J. Cancer 102:482–488.
    • (2010) Br. J. Cancer , vol.102 , pp. 482-488
    • Trano, G.1    Sjursen, W.2    Wasmuth, H.H.3    Hofsli, E.4    Vatten, L.J.5
  • 31
    • 77951826608 scopus 로고    scopus 로고
    • Clinical analysis of PMS2: Mutation detection and avoidance of pseudogenes
    • Vaughn, C. P., J. Robles, J. J. Swensen, C. E. Miller, E. Lyon, R. Mao, et al. 2010. Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. Hum. Mutat. 31:588–593.
    • (2010) Hum. Mutat. , vol.31 , pp. 588-593
    • Vaughn, C.P.1    Robles, J.2    Swensen, J.J.3    Miller, C.E.4    Lyon, E.5    Mao, R.6
  • 32
    • 77955439715 scopus 로고    scopus 로고
    • Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    • Walsh, T., M. K. Lee, S. Casadei, A. M. Thornton, S. M. Stray, C. Pennil, et al. 2010. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc. Natl. Acad. Sci. USA 107:12629–12633.
    • (2010) Proc. Natl. Acad. Sci. USA , vol.107 , pp. 12629-12633
    • Walsh, T.1    Lee, M.K.2    Casadei, S.3    Thornton, A.M.4    Stray, S.M.5    Pennil, C.6
  • 33
    • 77955264391 scopus 로고    scopus 로고
    • Titration-free massively parallel pyrosequencing using trace amounts of starting material
    • Zheng, Z., A. Advani, O. Melefors, S. Glavas, H. Nordstrom, W. Ye, et al. 2010. Titration-free massively parallel pyrosequencing using trace amounts of starting material. Nucleic Acids Res. 38:e137.
    • (2010) Nucleic Acids Res , vol.38 , pp. e137
    • Zheng, Z.1    Advani, A.2    Melefors, O.3    Glavas, S.4    Nordstrom, H.5    Ye, W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.