• 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 impact of coding germline variants on contralateral breast cancer risk and survival 

      Morra, Anna; Mavaddat, Nasim; Muranen, Taru A.; Ahearn, Thomas U.; Allen, Jamie; Andrulis, Irene L.; Auvinen, Päivi; Becher, Heiko; Behrens, Sabine; Blomqvist, Carl; Bojesen, Stig E.; Bolla, Manjeet K.; Brauch, Hiltrud; Camp, Nicola J.; Carvalho, Sara; Castelao, Jose E.; Cessna, Melissa H.; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Sahlberg, Guro Kristine Kleivi; Børresen-Dale, Anne-Lise; Gram, Inger Torhild; Olsen, Karina Standahl; Engebråten, Olav; Naume, Bjørn; Geisler, Jürgen; Grenaker, Grethe Irene; Czene, Kamila; Decker, Brennan; Dennis, Joe; Dörk, Thilo; Dorling, Leila; Dunning, Alison M.; Ekici, Arif B.; Eriksson, Mikael; Evans, D. Gareth; Fasching, Peter A.; Figueroa, Jonine D.; Flyger, Henrik; Gago-Dominguez, Manuela; García-Closas, Montserrat; Geurts-Giele, Willemina R.R.; Giles, Graham G.; Guénel, Pascal; Gündert, Melanie; Hahnen, Eric; Hall, Per; Hamann, Ute; Harrington, Patricia A.; He, Wei; Heikkilä, Päivi; Hooning, Maartje J.; Hoppe, Reiner; Howell, Anthony; Humphreys, Keith; Kristensen, Vessela N.; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Mavroudis, Dimitrios; Milne, Roger L.; Mulligan, Anna Marie; Newman, William G.; Park-Simon, Tjoung-Won; Peterlongo, Paolo; Pharoah, Paul D.P.; Rhenius, Valerie; Saloustros, Emmanouil; Sawyer, Elinor J.; Schmutzler, Rita K.; Shah, Mitul; Spurdle, Amanda B.; Tomlinson, Ian; Truong, Thérèse; van Veen, Elke M.; Vreeswijk, Maaike P.G.; Wang, Qin; Wendt, Camilla; Yang, Xiaohong R.; Nevanlinna, Heli; Devilee, Peter; Easton, Douglas F.; Schmidt, Marjanka K. (Peer reviewed; Journal article, 2023)
      Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The ...
    • White blood cell BRCA1 promoter methylation status and ovarian cancer risk 

      Lønning, Per Eystein; Berge, Elisabet Ognedal; Bjørnslett, Merete Pauline; Minsaas, Laura; Chrisanthar, Ranjan; Vetti, Hildegunn Høberg; Dulary, Cécile; Busato, Florence; Bjørneklett, Silje; Eriksen, Christine; Kopperud, Reidun Kristin; Axcrona, Ulrika; Davidson, Ben; Bjørge, Line; Evans, D. Gareth; Howell, Anthony; Salvesen, Helga; Janszky, Imre; Hveem, Kristian; Romundstad, Pål Richard; Vatten, Lars Johan; Tost, Jörg; Dørum, Anne; Knappskog, Stian (Journal article; Peer reviewed, 2018)
      Background: The role of normal tissue gene promoter methylation in cancer risk is poorly understood. Objective: To assess associations between normal tissue BRCA1 methylation and ovarian cancer risk. Design: 2 ...