Lynch syndrome

Histological and Somatic Mutational Profiles of Mismatch Repair Deficient Endometrial Tumours of Different Aetiologies

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Cancers (Basel). 2021 Sep 10;13(18):4538. DOI: 10.3390/cancers13184538

Neil A J Ryan, Thomas D J Walker, James Bolton, Natalja Ter Haar, Tom Van Wezel, Mark A Glaire, David N Church, D Gareth Evans, Tjalling Bosse, Emma J Crosbie

https://pubmed.ncbi.nlm.nih.gov/34572765/

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

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J Clin Med. 2021 Jun 28;10(13):2856. DOI: 10.3390/jcm10132856

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 Büttner, Heike Görgens, Elke Holinski-Feder, Monika Morak, Stefanie Holzapfel, Robert Hüneburg, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Jürgen Weitz, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Emma J Crosbie, Marta Pineda, Matilde Navarro, Joan Brunet, Leticia Moreira, Ariadna Sánchez, Miquel Serra-Burriel, Miriam Mints, Revital Kariv, Guy Rosner, Tamara Alejandra Piñero, Walter Hernán Pavicic, Pablo Kalfayan, Sanne W Ten Broeke, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Päivi Peltomäki, John L Hopper, Aung Ko Win, Daniel D Buchanan, Noralane M Lindor, Steven Gallinger, Loïc Le Marchand, Polly A Newcomb, Jane C Figueiredo, Stephen N Thibodeau, Christina Therkildsen, Thomas V O Hansen, Lars Lindberg, Einar Andreas Rødland, Florencia Neffa, Patricia Esperon, Douglas Tjandra, Gabriela Möslein, Toni T Seppälä, Pål Møller

https://pubmed.ncbi.nlm.nih.gov/34203177/

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

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Eur J Cancer. 2021 Mar 17;148:124-133. doi: 10.1016/j.ejca.2021.02.022. Online ahead of print.

Toni T Seppälä, Mev Dominguez-Valentin, Emma J Crosbie, Christoph Engel, Stefan Aretz, Finlay Macrae, Ingrid Winship, Gabriel Capella, Huw Thomas, Eivind Hovig, Maartje Nielsen, Rolf H Sijmons, Lucio Bertario, Bernardo Bonanni, Maria G Tibiletti, Giulia M Cavestro, Miriam Mints, Nathan Gluck, Lior Katz, Karl Heinimann, Carlos A Vaccaro, Kate Green, Fiona Lalloo, James Hill, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Hans-Georg Strauß, Johanna Tecklenburg, Elke Holinski-Feder, Verena Steinke-Lange, Jukka-Pekka Mecklin, John-Paul Plazzer, Marta Pineda, Matilde Navarro, Joan B Vida, Revital Kariv, Guy Rosner, Tamara A Piñero, Walter Pavicic, Pablo Kalfayan, Sanne W Ten Broeke, Mark A Jenkins, Lone Sunde, Inge Bernstein, John Burn, Marc Greenblatt, Wouter H de Vos Tot Nederveen Cappel, Adriana Della Valle, Francisco Lopez-Koestner, Karin Alvarez, Reinhard Büttner, Heike Görgens, Monika Morak, Stefanie Holzapfel, Robert Hüneburg, Magnus von Knebel Doeberitz, Markus Loeffler, Silke Redler, Jürgen Weitz, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, John L Hopper, Aung K Win, Noralane M Lindor, Steven Gallinger, Loïc Le Marchand, Polly A Newcomb, Jane C Figueiredo, Stephen N Thibodeau, Christina Therkildsen, Karin A W Wadt, Marian J E Mourits, Zohreh Ketabi, Oliver G Denton, Einar A Rødland, Hans Vasen, Florencia Neffa, Patricia Esperon, Douglas Tjandra, Gabriela Möslein, Erik Rokkones, Julian R Sampson, D G Evans, Pål Møller

https://pubmed.ncbi.nlm.nih.gov/33743481/

Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer

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J Natl Cancer Inst. 2021 Mar 6;djab029. doi: 10.1093/jnci/djab029. Online ahead of print.

Cathalijne C B Post, Ellen Stelloo, Vincent T H B M Smit, Dina Ruano, Carli M Tops, Lisa Vermij, Tessa A Rutten, Ina M Jürgenliemk-Schulz, Ludy C H W Lutgens, Jan J Jobsen, Remi A Nout, Emma J Crosbie, Melanie E Powell, Linda Mileshkin, Alexandra Leary, Paul Bessette, Hein Putter, Stephanie M de Boer, Nanda Horeweg, Maartje Nielsen, Tom van Wezel, Tjalling Bosse, Carien L Creutzberg

https://pubmed.ncbi.nlm.nih.gov/33693762/

The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study

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PLoS Med. 2020 Sep 17;17(9):e1003263. doi: 10.1371/journal.pmed.1003263. eCollection 2020 Sep.

Neil A J Ryan, Raymond McMahon, Simon Tobi, Tristan Snowsill, Shona Esquibel, Andrew J Wallace, Sancha Bunstone, Naomi Bowers, Ioana E Mosneag, Sarah J Kitson, Helena O’Flynn, Neal C Ramchander, Vanitha N Sivalingam, Ian M Frayling, James Bolton, Rhona J McVey, D Gareth Evans, Emma J Crosbie

https://pubmed.ncbi.nlm.nih.gov/32941469/