• 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 ...
    • MDM2 Promoter SNP344T>A (rs1196333) Status Does Not Affect Cancer Risk 

      Knappskog, Stian; Gansmo, Liv Beathe; Romundstad, Pål Richard; Bjørnslett, Merete Pauline; Trovik, Jone; Sommerfelt-Pettersen, Jan; Løkkevik, Erik; Tollenaar, Rob A.E.M.; Seynaeve, Caroline; Devilee, Peter; Salvesen, Helga Birgitte; Dørum, Anne; Hveem, Kristian; Vatten, Lars Johan; Lønning, Per Eystein (Journal article; Peer reviewed, 2012)
      The MDM2 proto-oncogene plays a key role in central cellular processes like growth control and apoptosis, and the gene locus is frequently amplified in sarcomas. Two polymorphisms located in the MDM2 promoter P2 have been ...
    • 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 (Journal article; Peer reviewed, 2014)
      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 ...