Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

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Thompson, B.A. (author)

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Article/chapterEnglish2014

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2013-12-22
Springer Science and Business Media LLC,2014

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LIBRIS-ID:oai:gup.ub.gu.se/213001
https://gup.ub.gu.se/publication/213001URI
https://doi.org/10.1038/ng.2854DOI
https://lup.lub.lu.se/record/4223160URI
http://kipublications.ki.se/Default.aspx?queryparsed=id:128358261URI

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Language:English

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Subject category:art swepub-publicationtype

Notes

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.

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Spurdle, A.B. (author)
Plazzer, J.P. (author)
Greenblatt, M.S. (author)
Akagi, K. (author)
Al-Mulla, F. (author)
Bapat, B.V. (author)
Bernstein, I.T. (author)
Capellá, G.M. (author)
Den Dunnen, J.T. (author)
Du Sart, D. (author)
Fabre, A.J. (author)
Farrell, M.P. (author)
Farrington, S.M. (author)
Frayling, I.M. (author)
Frébourg, T.H. (author)
Goldgar, D.E.J. (author)
Cummings, C. (author)
Holinski-Feder, E. (author)
Kohonen-Corish, M.R.J. (author)
Robinson, K.L.Karolinska Institutet (author)
Leung, S.Y. (author)
Martins, A. (author)
Möller, P. (author)
Morak, M. (author)
Nyström, M. (author)
Peltomäki, P.T. (author)
Pineda, M. (author)
Qi, M. (author)
Ramesar, R. (author)
Rasmussen, L.J. (author)
Royer-Pokora, B. (author)
Scott, R.J. (author)
Sijmons, R.H. (author)
Tavtigian, S.V.S.V. (author)
Tops, C.M.J. (author)
Weber, T.K. (author)
Wijnen, J.T.H. (author)
Woods, M.O. (author)
Macrae, F.A. (author)
Genuardi, M. (author)
Castillejo, A. (author)
Sexton, A.C. (author)
Chan, A.K.W. (author)
Viel, A.G.M. (author)
Blanco, A.M. (author)
French, A.J. (author)
Laner, A. (author)
Wagner, A. (author)
Van Den Ouweland, A.M.W. (author)
Mensenkamp, A.R. (author)
Payá, A. (author)
Betz, B. (author)
Redeker, B.J.W. (author)
Smith, B.G. (author)
Espenschied, C.R. (author)
Cummings, C. (author)
Engel, C. (author)
Fornes, C. (author)
Valenzuela, C. (author)
Alenda, C. (author)
Buchanan, D.D. (author)
Barana, D. (author)
Konstantinova, D.V. (author)
Cairns, D. (author)
Glaser, E. (author)
Silva, F. (author)
Lalloo, F.I. (author)
Crucianelli, F. (author)
Hogervorst, F.B.L. (author)
Casey, G.R. (author)
Tomlinson, I.P.M. (author)
Blanco, I.B.S.I. (author)
Villar, I.L. (author)
García-Planells, J. (author)
Bigler, J. (author)
Shia, J. (author)
Martínez-López, J.J. (author)
Gille, J.J.P. (author)
Hopper, J.L. (author)
Potter, J.D. (author)
Soto, J.L. (author)
Kantelinen, J. (author)
Ellis, K. (author)
Mann, K. (author)
Varesco, L. (author)
Zhang, L. (author)
Marchand, L.L. (author)
Marafie, M.J. (author)
Nordling, Margareta,1962Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics(Swepub:gu)xnmarx (author)
Tibiletti, M.G. (author)
Kahan, M.A. (author)
Ligtenberg, M.J.L. (author)
Clendenning, M. (author)
Jenkins, M.A. (author)
Dominguez, MevLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-med (author)
Digweed, M. (author)
Kloor, M. (author)
Hitchins, M.P. (author)
Myers, M. (author)
Aronson, M.D. (author)
Valentin, M.D. (author)
Kutsche, M. (author)
Parsons, M.T. (author)
Walsh, M.D. (author)
Kansikas, M. (author)
Zahary, M.N. (author)
Pedroni, M. (author)
Heider, N. (author)
Poplawski, N.K. (author)
Rahner, N. (author)
Lindor, N.M. (author)
Sala, P. (author)
Nan, P. (author)
Propping, P. (author)
Newcomb, P. (author)
Sarin, R. (author)
Haile, R.W.C. (author)
Hofstra, R.M.W. (author)
Ward, R.L. (author)
Tricarico, R. (author)
Bacares, R. (author)
Young, S. (author)
Chialina, S.G. (author)
Kovalenko, S.P. (author)
Gunawardena, S.R. (author)
Moreno, S. (author)
Ho, S. (author)
Yuen, S.T. (author)
Thibodeau, S.N. (author)
Gallinger, S.S. (author)
Burnett, T.S. (author)
Teitsch, T. (author)
Chan, T.L. (author)
Smyrk, T.C. (author)
Cranston, T. (author)
Psofaki, V. (author)
Steinke-Lange, V. (author)
Barberá, V.M. (author)
Karolinska InstitutetInstitutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik (creator_code:org_t)

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In:Nature Genetics: Springer Science and Business Media LLC46:2, s. 107-1151061-40361546-1718

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By the author/editor: Thompson, B.A.; Spurdle, A.B.; Plazzer, J.P.; Greenblatt, M.S.; Akagi, K.; Al-Mulla, F.; show more...; Bapat, B.V.; Bernstein, I.T.; Capellá, G.M.; Den Dunnen, J.T.; Du Sart, D.; Fabre, A.J.; Farrell, M.P.; Farrington, S.M.; Frayling, I.M.; Frébourg, T.H.; Goldgar, D.E.J.; Cummings, C.; Holinski-Feder, ...; Kohonen-Corish, ...; Robinson, K.L.; Leung, S.Y.; Martins, A.; Möller, P.; Morak, M.; Nyström, M.; Peltomäki, P.T.; Pineda, M.; Qi, M.; Ramesar, R.; Rasmussen, L.J.; Royer-Pokora, B.; Scott, R.J.; Sijmons, R.H.; Tavtigian, S.V.S ...; Tops, C.M.J.; Weber, T.K.; Wijnen, J.T.H.; Woods, M.O.; Macrae, F.A.; Genuardi, M.; Castillejo, A.; Sexton, A.C.; Chan, A.K.W.; Viel, A.G.M.; Blanco, A.M.; French, A.J.; Laner, A.; Wagner, A.; Van Den Ouweland ...; Mensenkamp, A.R.; Payá, A.; Betz, B.; Redeker, B.J.W.; Smith, B.G.; Espenschied, C.R ...; Engel, C.; Fornes, C.; Valenzuela, C.; Alenda, C.; Buchanan, D.D.; Barana, D.; Konstantinova, D ...; Cairns, D.; Glaser, E.; Silva, F.; Lalloo, F.I.; Crucianelli, F.; Hogervorst, F.B. ...; Casey, G.R.; Tomlinson, I.P.M ...; Blanco, I.B.S.I.; Villar, I.L.; García-Planells, ...; Bigler, J.; Shia, J.; Martínez-López, ...; Gille, J.J.P.; Hopper, J.L.; Potter, J.D.; Soto, J.L.; Kantelinen, J.; Ellis, K.; Mann, K.; Varesco, L.; Zhang, L.; Marchand, L.L.; Marafie, M.J.; Nordling, Margar ...; Tibiletti, M.G.; Kahan, M.A.; Ligtenberg, M.J. ...; Clendenning, M.; Jenkins, M.A.; Dominguez, Mev; Digweed, M.; Kloor, M.; Hitchins, M.P.; Myers, M.; Aronson, M.D.; Valentin, M.D.; Kutsche, M.; Parsons, M.T.; Walsh, M.D.; Kansikas, M.; Zahary, M.N.; Pedroni, M.; Heider, N.; Poplawski, N.K.; Rahner, N.; Lindor, N.M.; Sala, P.; Nan, P.; Propping, P.; Newcomb, P.; Sarin, R.; Haile, R.W.C.; Hofstra, R.M.W.; Ward, R.L.; Tricarico, R.; Bacares, R.; Young, S.; Chialina, S.G.; Kovalenko, S.P.; Gunawardena, S.R ...; Moreno, S.; Ho, S.; Yuen, S.T.; Thibodeau, S.N.; Gallinger, S.S.; Burnett, T.S.; Teitsch, T.; Chan, T.L.; Smyrk, T.C.; Cranston, T.; Psofaki, V.; Steinke-Lange, V ...; Barberá, V.M.; show less...

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