• Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype 

      Grolleman, Judith E.; de Voer, Richarda M.; Elsayed, Fadwa A.; Nielsen, Maartje; Weren, Robbert D.A.; Palles, Claire; Ligtenberg, Marjolijn J.L.; Vos, Janet R.; ten Broeke, Sanne W.; de Miranda, Noel F.C.C.; Kuiper, Renske A.; Kamping, Eveline J.; Jansen, Erik A.M.; Vink-Börger, M. Elisa; Popp, Isabell; Lang, Alois; Spier, Isabel; Hüneburg, Robert; James, Paul A.; Li, Na; Staninova, Marija; Lindsay, Helen; Cockburn, David; Spasic-Boskovic, Olivera; Clendenning, Mark; Sweet, Kevin; Capellá, Gabriel; Sjursen, Wenche; Vetti, Hildegunn Høberg; Jongmans, Marjolijn C.; Neveling, Kornelia; van Kessel, Ad Geurts; Morreau, Hans; Hes, Frederik J.; Sijmons, Rolf H.; Schackert, Hans K.; Ruiz-Ponte, Clara; Dymerska, Dagmara; Lubiñski, Jan; Rivera, Barbara; Foulkes, William D.; Tomlinson, Ian P.; Valle, Laura; Buchanan, Daniel D.; Kenwrick, Sue; Adlard, Julian; Dimovski, Aleksandar J.; Campbell, Ian G.; Aretz, Stefan; Schindler, Detlev; van Wezel, Tom; Hoogerbrugge, Nicoline; Kuiper, Roland P. (Peer reviewed; Journal article, 2019)
      Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals carrying biallelic germline NTHL1 mutations ...
    • 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 ...