• Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci 

      Tanskanen, Tomas; Van Den Berg, Linda; Välimäki, Niko; Aavikko, Mervi; Ness-Jensen, Eivind; Hveem, Kristian; Wettergren, Yvonne; Lindskog, Elinor Bexe; Tönisson, Neeme; Metspalu, Andres; Silander, Kaisa; Orlando, Giulia; Law, Philip J.; Tuupanen, Sari; Gylfe, Alexandra E.; Hänninen, Ulrika A.; Cajuso, Tatiana; Kondelin, Johanna; Sarin, Antti-Pekka; Pukkala, Eero; Jousilahti, Pekka; Salomaa, Veikko; Ripatti, Samuli; Palotie, Aarno; Järvinen, Heikki; Renkonen-Sinisalo, Laura; Lepistö, Anna; Böhm, Jan; Mecklin, Jukka-Pekka; Al-Tassan, Nada A.; Palles, Claire; Martin, Lynn; Barclay, Ella; Tenesa, Albert; Farrington, Susan M.; Timofeeva, Maria N.; Meyer, Brian F; Wakil, Salma M.; Campbell, Harry; Smith, Christopher G.; Idziaszczyk, Shelley; Maughan, Tim S.; Kaplan, Richard; Kerr, Rachel; Kerr, David; Buchanan, Daniel D.; Win, Aung K.; Hopper, John; Jenkins, Mark A.; Newcomb, Polly A.; Gallinger, Steve; Conti, David; Schumacher, Fredrick R.; Casey, Graham; Cheadle, Jeremy P.; Dunlop, Malcolm G.; Tomlinson, Ian P; Houlston, Richard S.; Palin, Kimmo; Aaltonen, Lauri (Journal article; Peer reviewed, 2018)
      Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm ...
    • 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 ...