Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Mev Dominguez-Valentin,Julian R. Sampson,Toni T. Seppälä,Sanne W. ten Broeke,John-Paul Plazzer,Sigve Nakken,Christoph Engel,Stefan Aretz,Mark A. Jenkins,Lone Sunde,Lone Sunde,Inge Bernstein,Gabriel Capellá,Francesc Balaguer,Huw D. Thomas,D. Gareth Evans,D. Gareth Evans,John Burn,Marc S. Greenblatt,Eivind Hovig,Wouter H. de Vos tot Nederveen Cappel,Rolf H. Sijmons,Lucio Bertario,Maria Grazia Tibiletti,Giulia Martina Cavestro,Annika Lindblom,Adriana Della Valle,Francisco López-Köstner,Nathan Gluck,Lior H. Katz,Karl Heinimann,Carlos A. Vaccaro,Reinhard Büttner,Heike Görgens,Elke Holinski-Feder,Monika Morak,Stefanie Holzapfel,Robert Hüneburg,Magnus von Knebel Doeberitz,Magnus von Knebel Doeberitz,Markus Loeffler,Nils Rahner,Hans K. Schackert,Verena Steinke-Lange,Wolff Schmiegel,Deepak Vangala,Kirsi Pylvänäinen,Laura Renkonen-Sinisalo,Laura Renkonen-Sinisalo,John L. Hopper,Aung Ko Win,Robert W. Haile,Noralane M. Lindor,Steven Gallinger,Loic Le Marchand,Polly A. Newcomb,Jane C. Figueiredo,Stephen N. Thibodeau,Karin Wadt,Christina Therkildsen,Henrik Okkels,Zohreh Ketabi,Leticia Moreira,Ariadna Sánchez,Miquel Serra-Burriel,Marta Pineda,Matilde Navarro,Ignacio Blanco,Kate Green,Fiona Lalloo,Emma J Crosbie,James Hill,Oliver G. Denton,Ian M. Frayling,Einar Andreas Rødland,Hans F. A. Vasen,Miriam Mints,Florencia Neffa,Patricia Esperon,Karin Alvarez,Revital Kariv,Guy Rosner,Tamara Alejandra Piñero,María Laura Gonzalez,Pablo Kalfayan,Douglas Tjandra,Ingrid Winship,Ingrid Winship,Finlay A. Macrae,Finlay A. Macrae,Gabriela Möslein,Jukka-Pekka Mecklin,Maartje Nielsen,Pål Møller,Pål Møller +94 more
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TLDR
Management guidelines for Lynch syndrome may require revision in light of these different gene and gender-specific risks and the good prognosis for the most commonly associated cancers.About:
This article is published in Genetics in Medicine.The article was published on 2020-01-01 and is currently open access. It has received 334 citations till now. The article focuses on the topics: Lynch syndrome & Cancer.read more
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Endometrial cancer
TL;DR: In this paper , the authors proposed minimally invasive surgical staging and sentinel-lymph-node biopsy for endometrial cancer, which provides a low morbidity alternative to historical surgical management without compromising oncological outcomes.
Journal ArticleDOI
Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019
Veda N. Giri,Karen E. Knudsen,William Kevin Kelly,Heather H. Cheng,Kathleen A. Cooney,Michael S. Cookson,William L. Dahut,Scott Weissman,Howard R. Soule,Daniel P. Petrylak,Adam P. Dicker,Saud H. AlDubayan,Amanda E. Toland,Colin C. Pritchard,Curtis A. Pettaway,Mary B. Daly,James L. Mohler,J. Kellogg Parsons,Peter R. Carroll,Robert Pilarski,Amie Blanco,Ashley H. Woodson,Alanna Kulchak Rahm,Mary-Ellen Taplin,Thomas J. Polascik,Brian T. Helfand,Colette Hyatt,Alicia K. Morgans,Felix Y. Feng,Michael Russell Mullane,Jacqueline Powers,Raoul S. Concepcion,Daniel W. Lin,Richard C. Wender,James Ryan Mark,Anthony J. Costello,Arthur L. Burnett,Oliver Sartor,William B. Isaacs,Jianfeng Xu,Jeffrey N. Weitzel,Gerald L. Andriole,Himisha Beltran,Alberto Briganti,Lindsey Byrne,Anne Calvaresi,Thenappan Chandrasekar,David Y.T. Chen,Robert B. Den,Albert Dobi,E. David Crawford,James A. Eastham,Scott E. Eggener,Matthew L. Freedman,Marc B. Garnick,Patrick T. Gomella,Nathan Handley,Mark D. Hurwitz,Joseph K Izes,R. Jeffrey Karnes,Costas D. Lallas,Lucia R. Languino,Stacy Loeb,Ana Maria Lopez,Kevin R. Loughlin,Grace L. Lu-Yao,S. Bruce Malkowicz,Mark Mann,Patrick Mille,Martin Miner,Todd M. Morgan,Jose Moreno,Lorelei A. Mucci,Ronald E. Myers,Sarah M. Nielsen,Brock O'Neil,Wayne H. Pinover,Peter A. Pinto,Wendy Poage,Ganesh V. Raj,Timothy R. Rebbeck,Charles J. Ryan,Howard M. Sandler,Matthew J. Schiewer,E. Michael D. Scott,Brittany M. Szymaniak,William Tester,Edouard J. Trabulsi,Neha Vapiwala,Evan Y. Yu,Charnita Zeigler-Johnson,Leonard G. Gomella +91 more
TL;DR: This multidisciplinary, consensus-driven PCA genetic implementation framework provides novel guidance to clinicians and patients tailored to the precision era and includes optimal pretest informed consent, post-test discussion, cascade testing, and technology-based approaches.
Journal ArticleDOI
Epidemiology and Prevention of Prostate Cancer.
Giorgio Gandaglia,Riccardo Leni,Freddie Bray,Neil Fleshner,Stephen J. Freedland,Stephen J. Freedland,Adam S. Kibel,Pär Stattin,Hendrick Van Poppel,Carlo La Vecchia +9 more
TL;DR: A review of English-language articles published between 2010 and 2020 was conducted using MEDLINE, EMBASE, and Scopus to identify risk factors for prostate cancer in 185 countries.
Journal ArticleDOI
European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender
Toni T. Seppälä,Toni T. Seppälä,Andrew Latchford,Andrew Latchford,Ionut Negoi,A. Sampaio Soares,R. M. Jimenez-Rodriguez,Luis Sánchez-Guillén,D. G. R. Evans,Neil A J Ryan,Neil A J Ryan,Emma J Crosbie,Mev Dominguez-Valentin,John Burn,Matthias Kloor,M. von Knebel Doeberitz,F. J. B. van Duijnhoven,Phil Quirke,Julian R. Sampson,Pål Møller,Gabriela Möslein +20 more
TL;DR: Recommendations from the EHTG and ESCP for identification of patients with Lynch syndrome, colorectal surveillance, surgical management of coloreCTal cancer, lifestyle and chemoprevention in Lynch syndrome that reached a consensus are presented.
Journal ArticleDOI
Molecular pathology of Lynch syndrome.
TL;DR: It is shown that the processes of autoimmunisation and immunoediting fundamentally constrain the development of tumours in LS and explain the efficacy of immune checkpoint blockade therapy in MMR‐deficient tumours.
References
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Journal ArticleDOI
Cancer risk in mutation carriers of DNA-mismatch-repair genes.
M. Aarnio,Risto Sankila,Eero Pukkala,Reijo Salovaara,Lauri A. Aaltonen,A de la Chapelle,Päivi Peltomäki,Jukka-Pekka Mecklin,Heikki Järvinen +8 more
TL;DR: The tumour spectrum associated with germline mutations of DNA‐mismatch‐repair genes involves 8 or more organ sites, suggesting a need to develop methods to screen for extra‐colonic cancer also.
Journal ArticleDOI
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
Valérie Bonadona,B. Bonaiti,Sylviane Olschwang,Sophie Grandjouan,Laetitia Huiart,Michel Longy,Rosine Guimbaud,Bruno Buecher,Yves-Jean Bignon,Olivier Caron,Chrystelle Colas,Catherine Noguès,Sophie Lejeune-Dumoulin,Laurence Olivier-Faivre,Florence Polycarpe-Osaer,Tan Dat Nguyen,Françoise Desseigne,Jean-Christophe Saurin,Pascaline Berthet,Dominique Leroux,Jacqueline Duffour,Sylvie Manouvrier,Thierry Frebourg,Hagay Sobol,Christine Lasset,Catherine Bonaïti-Pellié +25 more
TL;DR: MSH6 mutations are associated with markedly lower cancer risks than MLH1 or MSH2 mutations, and these risks do not increase appreciably until after the age of 40 years.
Journal Article
Cancer risks associated with germline mutations in MLH1, MSH2 and MSH6 genes in Lynch syndrome: results from the large nationwide French ERISCAM study
Valérie Bonadona,B. Bonaiti,Sylviane Olschwang,Sophie Grandjouan,Qing Wang,Catherine Bonaïti-Pellié,Christine Lasset +6 more
TL;DR: In this article, the age-specific cumulative risks of developing various tumors using a large series of families with mutations of the MLH1, MSH2, and MSH6 genes were estimated using the genotype restricted likelihood (GRL) method accounting for ascertainment bias.
Journal ArticleDOI
The risk of extra‐colonic, extra‐endometrial cancer in the Lynch syndrome
Patrice Watson,Hans F. A. Vasen,Jukka-Pekka Mecklin,Inge Bernstein,Markku Aarnio,Heikki Järvinen,Torben Myrhøj,Lone Sunde,Juul T. Wijnen,Henry T. Lynch +9 more
TL;DR: Urologic tract cancer and ovarian cancer occur frequently enough in some LS subgroups to justify trials to evaluate promising prevention interventions, and other cancer types studied occur too infrequently to justify strenuous cancer control interventions.
Journal ArticleDOI
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
Leigha Senter,Mark Clendenning,Kaisa Sotamaa,Heather Hampel,Jane Green,John D. Potter,Annika Lindblom,Kristina Lagerstedt,Stephen N. Thibodeau,Noralane M. Lindor,Joanne P. Young,Ingrid Winship,James G. Dowty,Darren M. White,John L. Hopper,Laura Baglietto,Mark A. Jenkins,Albert de la Chapelle +17 more
TL;DR: PMS2 mutations contribute significantly to Lynch syndrome, but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes.
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