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

Bryony A Thompson, Amanda B Spurdle, John-Paul Plazzer, Marc S Greenblatt, Kiwamu Akagi, Fahd Al-Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellá, Johan T den Dunnen, Desiree du Sart, Aurelie Fabre, Michael P Farrell, Susan M Farrington, Ian M Frayling, Thierry Frebourg, David E Goldgar, Christopher D Heinen, Elke Holinski-Feder, Maija Kohonen-CorishKristina Lagerstedt Robinson, Suet Yi Leung, Alexandra Martins, Pal Moller, Monika Morak, Minna Nystrom, Paivi Peltomaki, Marta Pineda, Ming Qi, Rajkumar Ramesar, Lene Juel Rasmussen, Brigitte Royer-Pokora, Rodney J Scott, Rolf Sijmons, Sean V Tavtigian, Carli M Tops, Thomas Weber, Juul Wijnen, Michael O Woods, Finlay Macrae, Maurizio Genuardi, Adela Castillejo, Adrienne Sexton, Anthony K W Chan, Alessandra Viel, Amie Blanco, Amy French, Andreas Laner, Anja Wagner, Ans van den Ouweland, on behalf of InSiGHT

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

241 Citationer (Scopus)
OriginalsprogEngelsk
TidsskriftNature Genetics
Vol/bind46
Udgave nummer2
Sider (fra-til)107-115
ISSN1061-4036
DOI
StatusUdgivet - 2014

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DNA Mismatch Repair
Databases
Hereditary Nonpolyposis Colorectal Neoplasms
Genes
Neoplasms
Advisory Committees
Terminology
Proteins

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Thompson, B. A., Spurdle, A. B., Plazzer, J-P., Greenblatt, M. S., Akagi, K., Al-Mulla, F., ... on behalf of InSiGHT (2014). Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics, 46(2), 107-115. https://doi.org/10.1038/ng.2854
Thompson, Bryony A ; Spurdle, Amanda B ; Plazzer, John-Paul ; Greenblatt, Marc S ; Akagi, Kiwamu ; Al-Mulla, Fahd ; Bapat, Bharati ; Bernstein, Inge ; Capellá, Gabriel ; den Dunnen, Johan T ; du Sart, Desiree ; Fabre, Aurelie ; Farrell, Michael P ; Farrington, Susan M ; Frayling, Ian M ; Frebourg, Thierry ; Goldgar, David E ; Heinen, Christopher D ; Holinski-Feder, Elke ; Kohonen-Corish, Maija ; Robinson, Kristina Lagerstedt ; Leung, Suet Yi ; Martins, Alexandra ; Moller, Pal ; Morak, Monika ; Nystrom, Minna ; Peltomaki, Paivi ; Pineda, Marta ; Qi, Ming ; Ramesar, Rajkumar ; Rasmussen, Lene Juel ; Royer-Pokora, Brigitte ; Scott, Rodney J ; Sijmons, Rolf ; Tavtigian, Sean V ; Tops, Carli M ; Weber, Thomas ; Wijnen, Juul ; Woods, Michael O ; Macrae, Finlay ; Genuardi, Maurizio ; Castillejo, Adela ; Sexton, Adrienne ; Chan, Anthony K W ; Viel, Alessandra ; Blanco, Amie ; French, Amy ; Laner, Andreas ; Wagner, Anja ; van den Ouweland, Ans ; on behalf of InSiGHT. / Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. I: Nature Genetics. 2014 ; Bind 46, Nr. 2. s. 107-115.
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title = "Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database",
author = "Thompson, {Bryony A} and Spurdle, {Amanda B} and John-Paul Plazzer and Greenblatt, {Marc S} and Kiwamu Akagi and Fahd Al-Mulla and Bharati Bapat and Inge Bernstein and Gabriel Capell{\'a} and {den Dunnen}, {Johan T} and {du Sart}, Desiree and Aurelie Fabre and Farrell, {Michael P} and Farrington, {Susan M} and Frayling, {Ian M} and Thierry Frebourg and Goldgar, {David E} and Heinen, {Christopher D} and Elke Holinski-Feder and Maija Kohonen-Corish and Robinson, {Kristina Lagerstedt} and Leung, {Suet Yi} and Alexandra Martins and Pal Moller and Monika Morak and Minna Nystrom and Paivi Peltomaki and Marta Pineda and Ming Qi and Rajkumar Ramesar and Rasmussen, {Lene Juel} and Brigitte Royer-Pokora and Scott, {Rodney J} and Rolf Sijmons and Tavtigian, {Sean V} and Tops, {Carli M} and Thomas Weber and Juul Wijnen and Woods, {Michael O} and Finlay Macrae and Maurizio Genuardi and Adela Castillejo and Adrienne Sexton and Chan, {Anthony K W} and Alessandra Viel and Amie Blanco and Amy French and Andreas Laner and Anja Wagner and {van den Ouweland}, Ans and {on behalf of InSiGHT}",
year = "2014",
doi = "10.1038/ng.2854",
language = "English",
volume = "46",
pages = "107--115",
journal = "Nature Genetics",
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Thompson, BA, Spurdle, AB, Plazzer, J-P, Greenblatt, MS, Akagi, K, Al-Mulla, F, Bapat, B, Bernstein, I, Capellá, G, den Dunnen, JT, du Sart, D, Fabre, A, Farrell, MP, Farrington, SM, Frayling, IM, Frebourg, T, Goldgar, DE, Heinen, CD, Holinski-Feder, E, Kohonen-Corish, M, Robinson, KL, Leung, SY, Martins, A, Moller, P, Morak, M, Nystrom, M, Peltomaki, P, Pineda, M, Qi, M, Ramesar, R, Rasmussen, LJ, Royer-Pokora, B, Scott, RJ, Sijmons, R, Tavtigian, SV, Tops, CM, Weber, T, Wijnen, J, Woods, MO, Macrae, F, Genuardi, M, Castillejo, A, Sexton, A, Chan, AKW, Viel, A, Blanco, A, French, A, Laner, A, Wagner, A, van den Ouweland, A & on behalf of InSiGHT 2014, 'Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database', Nature Genetics, bind 46, nr. 2, s. 107-115. https://doi.org/10.1038/ng.2854

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. / Thompson, Bryony A; Spurdle, Amanda B; Plazzer, John-Paul; Greenblatt, Marc S; Akagi, Kiwamu; Al-Mulla, Fahd; Bapat, Bharati; Bernstein, Inge; Capellá, Gabriel; den Dunnen, Johan T; du Sart, Desiree; Fabre, Aurelie; Farrell, Michael P; Farrington, Susan M; Frayling, Ian M; Frebourg, Thierry; Goldgar, David E; Heinen, Christopher D; Holinski-Feder, Elke; Kohonen-Corish, Maija; Robinson, Kristina Lagerstedt; Leung, Suet Yi; Martins, Alexandra; Moller, Pal; Morak, Monika; Nystrom, Minna; Peltomaki, Paivi; Pineda, Marta; Qi, Ming; Ramesar, Rajkumar; Rasmussen, Lene Juel; Royer-Pokora, Brigitte; Scott, Rodney J; Sijmons, Rolf; Tavtigian, Sean V; Tops, Carli M; Weber, Thomas; Wijnen, Juul; Woods, Michael O; Macrae, Finlay; Genuardi, Maurizio; Castillejo, Adela; Sexton, Adrienne; Chan, Anthony K W; Viel, Alessandra; Blanco, Amie; French, Amy; Laner, Andreas; Wagner, Anja; van den Ouweland, Ans; on behalf of InSiGHT.

I: Nature Genetics, Bind 46, Nr. 2, 2014, s. 107-115.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

AU - Thompson, Bryony A

AU - Spurdle, Amanda B

AU - Plazzer, John-Paul

AU - Greenblatt, Marc S

AU - Akagi, Kiwamu

AU - Al-Mulla, Fahd

AU - Bapat, Bharati

AU - Bernstein, Inge

AU - Capellá, Gabriel

AU - den Dunnen, Johan T

AU - du Sart, Desiree

AU - Fabre, Aurelie

AU - Farrell, Michael P

AU - Farrington, Susan M

AU - Frayling, Ian M

AU - Frebourg, Thierry

AU - Goldgar, David E

AU - Heinen, Christopher D

AU - Holinski-Feder, Elke

AU - Kohonen-Corish, Maija

AU - Robinson, Kristina Lagerstedt

AU - Leung, Suet Yi

AU - Martins, Alexandra

AU - Moller, Pal

AU - Morak, Monika

AU - Nystrom, Minna

AU - Peltomaki, Paivi

AU - Pineda, Marta

AU - Qi, Ming

AU - Ramesar, Rajkumar

AU - Rasmussen, Lene Juel

AU - Royer-Pokora, Brigitte

AU - Scott, Rodney J

AU - Sijmons, Rolf

AU - Tavtigian, Sean V

AU - Tops, Carli M

AU - Weber, Thomas

AU - Wijnen, Juul

AU - Woods, Michael O

AU - Macrae, Finlay

AU - Genuardi, Maurizio

AU - Castillejo, Adela

AU - Sexton, Adrienne

AU - Chan, Anthony K W

AU - Viel, Alessandra

AU - Blanco, Amie

AU - French, Amy

AU - Laner, Andreas

AU - Wagner, Anja

AU - van den Ouweland, Ans

AU - on behalf of InSiGHT

PY - 2014

Y1 - 2014

U2 - 10.1038/ng.2854

DO - 10.1038/ng.2854

M3 - Journal article

C2 - 24362816

VL - 46

SP - 107

EP - 115

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 2

ER -