C
Carli M. J. Tops
Researcher at Leiden University Medical Center
Publications - 101
Citations - 6849
Carli M. J. Tops is an academic researcher from Leiden University Medical Center. The author has contributed to research in topics: Lynch syndrome & Germline mutation. The author has an hindex of 40, co-authored 96 publications receiving 6309 citations. Previous affiliations of Carli M. J. Tops include Leiden University.
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Journal ArticleDOI
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.
Yvonne M.C. Hendriks,Anja Wagner,Hans Morreau,Fred H. Menko,Astrid Stormorken,Franz Quehenberger,Lodewijk A. Sandkuijl,Pål Møller,Maurizio Genuardi,Hans C. van Houwelingen,Carli M. J. Tops,Marjo van Puijenbroek,Paul Verkuijlen,Gemma G. Kenter,Anneke M. van Mil,Hanne Meijers-Heijboer,Gita B Tan,Martijn H. Breuning,Riccardo Fodde,Juul T. Wijnen,A H J T Bröcker-Vriends,Hans F. A. Vasen +21 more
TL;DR: The aim of this study was to determine the cumulative risk of developing cancer in a large series of MSH6 mutation carriers, and recommended starting colonoscopic surveillance in female MSH 6 mutation carriers from age 30 years.
Journal ArticleDOI
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,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,Desirée du Sart,Aurelie Fabre,Michael Farrell,Susan M. Farrington,Ian M. Frayling,Thierry Frebourg,David E. Goldgar,David E. Goldgar,Christopher D. Heinen,Elke Holinski-Feder,Maija R.J. Kohonen-Corish,Maija R.J. Kohonen-Corish,Maija R.J. Kohonen-Corish,Kristina Lagerstedt Robinson,Suet Yi Leung,Alexandra Martins,Pål Møller,Monika Morak,Minna Nyström,Päivi Peltomäki,Marta Pineda,Ming Qi,Ming Qi,Rajkumar Ramesar,Lene Juel Rasmussen,Brigitte Royer-Pokora,Rodney J. Scott,Rodney J. Scott,Rolf H. Sijmons,Sean V. Tavtigian,Carli M. J. Tops,Thomas P. Weber,Juul T. Wijnen,Michael O. Woods,Finlay A. Macrae,Maurizio Genuardi +46 more
TL;DR: 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.
Journal ArticleDOI
MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
Nelly Burnichon,Alberto Cascón,Francesca Schiavi,Nicole Paes Morales,Iñaki Comino-Méndez,N. Abermil,Lucía Inglada-Pérez,Aguirre A. de Cubas,Laurence Amar,Marta Barontini,Sandra Bernaldo de Quirós,Jérôme Bertherat,Yves-Jean Bignon,Marinus J. Blok,Sara Bobisse,Salud Borrego,Maurizio Castellano,Philippe Chanson,María-Dolores Chiara,Eleonora P M Corssmit,M. Giacchè,Ronald R. de Krijger,Tonino Ercolino,Xavier Girerd,Encarna B. Gomez-Garcia,Álvaro Gómez-Graña,Isabelle Guilhem,Frederik J. Hes,Emiliano Honrado,Esther Korpershoek,Jacques W.M. Lenders,Rocío Letón,Arjen R. Mensenkamp,Anna Merlo,Luigi Mori,Arnaud Murat,Peggy Pierre,Pierre-François Plouin,Tamara Prodanov,Miguel Quesada-Charneco,Nan Qin,Elena Rapizzi,Victoria M. Raymond,Nicole Reisch,Giovanna Roncador,Macarena Ruiz-Ferrer,F Schillo,Alexander P.A. Stegmann,Carlos Suárez,Elisa Taschin,Henri J L M Timmers,Carli M. J. Tops,Miguel Urioste,Felix Beuschlein,Karel Pacak,Massimo Mannelli,Patricia L. M. Dahia,Giuseppe Opocher,Graeme Eisenhofer,Anne-Paule Gimenez-Roqueplo,Mercedes Robledo +60 more
TL;DR: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients.
Journal ArticleDOI
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
Jean-Pierre Bayley,Henricus P. M. Kunst,Alberto Cascón,M. L. Sampietro,José Gaal,Esther Korpershoek,Adolfo Hinojar-Gutierrez,Henri J L M Timmers,Lies H. Hoefsloot,Mario Hermsen,Carlos Suárez,A. Karim Hussain,Annette H. J. T. Vriends,Frederik J. Hes,Jeroen C. Jansen,Carli M. J. Tops,Eleonora P M Corssmit,Peter de Knijff,Jacques W.M. Lenders,Cor W. R. J. Cremers,Peter Devilee,Winand N.M. Dinjens,Ronald R. de Krijger,Mercedes Robledo +23 more
TL;DR: It is concluded that SDHAF2 mutation analysis is justified in very young patients with isolated head and neck paraganglioma without mutations in SDHD, SDHC, or SDHB, and in individuals with familial antecedents who are negative for mutations in all other risk genes.
Journal ArticleDOI
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
Marlies Kempers,Roland P. Kuiper,Charlotte W. Ockeloen,Pierre O. Chappuis,Pierre Hutter,Nils Rahner,Hans K. Schackert,Verena Steinke,Elke Holinski-Feder,Monika Morak,Matthias Kloor,Reinhard Büttner,Eugène T P Verwiel,J. Han van Krieken,Iris D. Nagtegaal,Monique Goossens,Rachel S. van der Post,Renee C. Niessen,Rolf H. Sijmons,Irma Kluijt,Frans B. L. Hogervorst,Edward M Leter,Johan J.P. Gille,Cora M. Aalfs,Egbert J.W. Redeker,Frederik J. Hes,Carli M. J. Tops,Bernadette P M van Nesselrooij,Marielle E. van Gijn,Encarna B. Gomez Garcia,Diana Eccles,David J. Bunyan,Sapna Syngal,Elena M. Stoffel,Julie O. Culver,Melanie R. Palomares,Tracy Graham,Lea Velsher,János Papp,Edith Olah,Tsun Leung Chan,Suet Yi Leung,Ad Geurts van Kessel,Lambertus A. Kiemeney,Nicoline Hoogerbrugge,Marjolijn J L Ligtenberg +45 more
TL;DR: The results underscore the effect of mosaic MSH2 deficiency, leading to variable cancer risks, and could form the basis of an optimised protocol for the recognition and targeted prevention of cancer in EPCAM deletion carriers.