• An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome 

      Suerink, Manon; Rodriguez-Girondo, Mar; van der Klift, Heleen M.; Colas, Chrystelle; Brugieres, Laurence; Lavoine, Noémie; Jongmans, Marjolijn; Munar, Gabriel Capellá; Evans, D. Gareth; Farrell, Michael P.; Genuardi, Maurizio; Goldberg, Yael; Gomez-Garcia, Encarna; Heinimann, Karl; Hoell, Jessica I.; Aretz, Stefan; Jasperson, Kory W.; Kedar, Inbal; Modi, Mitul B.; Nikolaev, Sergey; van Os, Theo A.M.; Ripperger, Tim; Rueda, Daniel; Senter, Leigha; Sjursen, Wenche; Sunde, Lone; Therkildsen, Christina; Tibiletti, Maria G.; Trainer, Alison H.; Vos, Yvonne J.; Wagner, Anja; Winship, Ingrid; Wimmer, Katharina; Zimmermann, Stefanie Y.; Vasen, Hans F.; van Asperen, Christi J.; Houwing-Duistermaat, Jeanine J.; ten Broeke, Sanne W.; Nielsen, Maartje (Peer reviewed; Journal article, 2019)
      Purpose Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a recessive childhood cancer predisposition syndrome known as constitutional mismatch repair deficiency (CMMRD). Family members with a ...
    • The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants 

      Rio-Machin, Ana; Villiamy, Tom; Hug, Nele; Walne, Amanda; Tawana, Kiran; Cardoso, Shirleny; Ellison, Alicia; Pontikos, Nikolas; Wang, Jun; Tummala, Hemanth; Al Seraihi, Ahad Fahad H.; Alnajar, Jenna; Bewicke-Copley, Findlay; Barnett, Michael; Armes, Hannah; Bloor, Adrian; Bödör, Csabo; Bowen, David; Fenaux, Pierre; Green, Andrew; Hallahan, Andrew; Hjorth-Hansen, Henrik; Hossein, Upal; Killick, Sally; Lawson, Sarah; Layton, Mark; Male, Alison M.; Marsh, Judith; Mehta, Priyanka; Mous, Rogier; Nomdedéu, Josep F.; Owen, Carolyn; Pavlu, Jiri; Payne, Elspeth; Protheroe, Rachel E.; Preudhomme, Claude; Pujol-Moix, Nuria; Renneville, Aline; Russell, Nigel; Saggar, Anand; Sciuccati, Gabriela; Taussig, David; Toze, Cynthia; Uyttebroeck, Anne; Vandenberghe, Peter; Schlegelberger, Brigitte; Ripperger, Tim; Steinemann, Doris; Wu, John; Mason, Joanne; Page, Paula; Akiki, Susanna; Reay, Kim; Cavenagh, Jamie D.; Plagnol, Vincent; Caceres, Javier F.; Fitzgibbon, Jude; Dokal, Inderjeet (Peer reviewed; Journal article, 2020)
      The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition and management of this group of at risk individuals. Here we ...