• Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) 

      Knappskog, Stian; Gansmo, Liv Beathe; Dibirova, Khadizha; Metspalu, Andres; Cybulski, Cezary; Peterlongo, Paolo; Aaltonen, Lauri; Vatten, Lars Johan; Romundstad, Pål Richard; Hveem, Kristian; Devilee, Peter; Evans, Gareth D; Lin, Dongxin; Van Camp, Guy; Manolopoulos, Vangelis G; Osorio, Ana; Milani, Lili; Ozcelik, Tayfun; Zalloua, Pierre; Mouzaya, Francis; Bliznetz, Elena; Balanovska, Elena; Pocheshkova, Elvira; Kucinskas, Vaidutis; Atramentova, Lubov; Nymadawa, Pagbajabyn; Titov, Konstantin; Lavryashina, Maria; Yusupov, Yuldash; Bogdanova, Natalia; Koshel, Sergey; Zamora, Jorge; Wedge, David C.; Charlesworth, Deborah; Dörk, Thilo; Balanovsky, Oleg; Lønning, Per Eystein (Peer reviewed; Journal article, 2014-04-18)
      The MDM2 promoter SNP285C is located on the SNP309G allele. While SNP309G enhances Sp1 transcription factor binding and MDM2 transcription, SNP285C antagonizes Sp1 binding and reduces the risk of breast-, ovary- and ...
    • Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples 

      Bailey, Matthew H.; Meyerson, William U.; Dursi, L. Jonathan; Wang, Liang-Bo; Dong, Guanlan; Liang, Wen-Wei; Weerasinghe, Amila; Li, Shantao; Li, Yize; Kelso, Sean; Aure, Miriam Ragle; Børresen-Dale, Anne-Lise; Langerød, Anita; Baumhoer, Daniel; Bjerkehagen, Bodil; Garred, Øystein; Lingjærde, Ole Christian; Sauer, Torill; Zaikova, Olga; Myklebost, Ola; Knappskog, Stian; Vazquez, Miguel; Akbani, Rehan; Anur, Pavana; Buchanan, Alex; Chiotti, Kami; Covington, Kyle; Creason, Allison; Niu, Beifang; Bieg, Matthias; Boutros, Paul C.; Buchhalter, Ivo; Butler, Adam P.; Chen, Ken; Chong, Zechen; Drechsel, Oliver; Aaltonen, Lauri; Abascal, Federico; Abeshouse, Adam; Aburatani, H; Adams, David J.; Van Loo, Peter; Saksena, Gordon; Ellrott, Kyle; Wendl, Michael C.; Wheeler, David A.; Getz, Gad; Simpson, Jared T.; Gerstein, Mark B.; Ding, Li (Journal article; Peer reviewed, 2020)
      The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part ...