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No Difference in Penetrance Between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Mev Dominguez-Valentin,John-Paul Plazzer,Julian R. Sampson,Christoph Engel,Stefan Aretz,Mark A. Jenkins,Lone Sunde,Inge Bernstein,Gabriel Capella,Francesc Balaguer,Finlay Macrae,Ingrid M. Winship,Huw Thomas,Dafydd Gareth Evans,John Burn,Marc Greenblatt,Wouter H. de Vos Tot Nederveen Cappel,Rolf H. Sijmons,Maartje Nielsen,Lucio Bertario,Bernardo Bonanni,Maria Grazia Tibiletti,Giulia Martina Cavestro,Annika Lindblom,Adriana Della Valle,Francisco Lopez-Kostner,Karin Alvarez,Nathan Gluck,Lior Katz,Karl Heinimann,Carlos A. Vaccaro,Sigve Nakken,Eivind Hovig,Kate Green,Fiona Lalloo,James Hill,Hans F. A. Vasen,Claudia Perne,Reinhard Buettner,Heike Goergens,Elke Holinski-Feder,Monika Morak,Stefanie Holzapfel,Robert Hueneburg,Magnus von Knebel Doeberitz,Markus Loeffler,Nils Rahner,Juergen Weitz,Verena Steinke-Lange,Wolff Schmiegel,Deepak Vangala,Emma J. Crosbie,Marta Pineda,Matilde Navarro,Joan Brunet,Leticia Moreira,Ariadna Sanchez,Miquel Serra-Burriel,Miriam Mints,Revital Kariv,Guy Rosner,Tamara Alejandra Pinero,Walter Hernan Pavicic,Pablo Kalfayan,Sanne W. ten Broeke,Jukka-Pekka Mecklin,Kirsi Pylvanainen,Laura Renkonen-Sinisalo,Anna Lepisto,Paivi Peltomaki,John L. Hopper,Aung Ko Win,Daniel D. Buchanan,Noralane M. Lindor,Steven Gallinger,Loic Le Marchand,Polly A. Newcomb,Jane C. Figueiredo,Stephen N. Thibodeau,Christina Therkildsen,Thomas V. O. Hansen,Lars Lindberg,Einar Andreas Rodland,Florencia Neffa,Patricia Esperon,Douglas Tjandra,Gabriela Moslein,Toni T. Seppala,Pal Moller

Journal of Clinical Medicine（2021）

引用 14|浏览32
关键词
MLH1,MSH2,penetrance,cancer incidence,truncating,missense,aberrant splicing,Lynch syndrome
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