• MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome 

      Wiik, Mariann Unhjem; Negline, Mia; Beisvag, Vidar; Clapham, Matthew; Holliday, Elizabeth; Dueñas, Nuria; Brunet, Joan; Pineda, Marta; Bonifaci, Nuria; Aretz, Stefan; Klinkhammer, Hannah; Spier, Isabel; Perne, Claudia; Mayr, Andreas; Valle, Laura; Lubinski, Jan; Sjursen, Wenche; Scott, Rodney J.; Talseth-Palmer, Bente Anita (Peer reviewed; Journal article, 2023)
      Lynch syndrome (LS) is characterised by an increased risk of developing colorectal cancer (CRC) and other extracolonic epithelial cancers. It is caused by pathogenic germline variants in DNA mismatch repair (MMR) genes or ...
    • 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 ...