Search: onr:"swepub:oai:gup.ub.gu.se/213001" >
Application of a 5-...
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
Publisher, publication year, extent ...
-
2013-12-22
-
Springer Science and Business Media LLC,2014
Numbers
-
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
Supplementary language notes
Part of subdatabase
Classification
-
Subject category:ref swepub-contenttype
-
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 Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution.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.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
-
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)
Related titles
-
In:Nature Genetics: Springer Science and Business Media LLC46:2, s. 107-1151061-40361546-1718
Internet link
Find in a library
To the university's database
- 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...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Cancer and Oncol ...
- Articles in the publication
-
Nature Genetics
- By the university
-
University of Gothenburg
-
Lund University
-
Karolinska Institutet