• Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk 

      Carvajal-Carmona, Luis G.; O'Mara, Tracy A.; Painter, Jodie N.; Lose, Felicity A.; Dennis, Joe; Michailidou, Kyriaki; Tyrer, Jonathan P; Ahmed, Shahana; Ferguson, Kaltin; Healey, Catherine S.; Pooley, Karen; Beesley, Jonathan; Cheng, Timothy; Jones, Angela; Howarth, Kimberley; Martin, Lynn; Gorman, Maggie; Hodgson, Shirley; Wentzensen, Nicholas; Fasching, Peter A.; Hein, Alexander; Beckmann, Matthias W.; Renner, Stefan P.; Dörk, Thilo; Hillemanns, Peter; Durst, Matthias; Runnebaum, Ingo; Lambrechts, Dieter; Coenegrachts, Lieve; Schrauwen, Stefanie; Amant, Frederic; Winterhoff, Boris; Dowdy, Sean C.; Goode, Ellen L.; Teoman, Attila; Salvesen, Helga Birgitte; Trovik, Jone; Njølstad, Tormund Salvesen; Werner, Henrica Maria Johanna; Scott, Rodney J.; Ashton, Katie; Proietto, Tony; Otton, Geoffrey; Wersäll, Ofra; Mints, Miriam; Tham, Emma; Hall, Per; Czene, Kamila; Liu, Jianjun; Li, Jingmei; Hopper, John L.; Southey, Melissa C.; Ekici, Arif B.; Ruebner, Matthias; Johnson, Nichola; Peto, Julian; Burwinkel, Barbara; Marme, Frederik; Brenner, Hermann; Dieffenbach, Aida Karina; Meindl, Alfons; Brauch, Hiltrud; Lindblom, Annika; Depreeuw, Jeroen; Moisse, Matthieu; Chang-Claude, Jenny; Rudolph, Anja; Couch, Fergus J.; Olson, Janet E.; Giles, Graham G.; Bruinsma, Fiona; Cunningham, Julie M.; Fridley, Brooke L.; Børresen-Dale, Anne-Lise; Kristensen, Vessela N.; Cox, Angela; Swerdlow, Anthony J.; Orr, Nicholas; Bolla, Manjeet K.; Wang, Qin; Weber, Rachel Palmieri; Chen, Zhihua; Shah, Mitul; Pharoah, Paul D.P.; Dunning, Alison M.; Tomlinson, Ian; Easton, Douglas F.; Spurdle, Amanda B.; Thompson, Deborah J. (Peer reviewed; Journal article, 2014-12-09)
      Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with ...
    • The circular RNome of primary breast cancer 

      Smid, Marcel; Wilting, Saskia M.; Uhr, Katharina; Rodríguez-González, F. Germán; de Weerd, Vanja; Prager-Van der Smissen, Wendy J.C.; van der Vlugt-Daane, Michelle; van Galen, Anne; Nik-Zainal, Serena; Butler, Adam; Martin, Sancha; Davies, Helen R.; Staaf, Johan; van de Vijver, Marc J.; Richardson, Andrea L.; Macgrogan, Gaëtan; Salgado, Roberto; van den Eynden, Gert G.G.M.; Purdie, Colin A.; Thompson, Alastair M.; Caldas, Carlos; Span, Paul N.; Sweep, Fred C.G.J.; Simpson, Peter T.; Lakhani, Sunil R.; Van Laere, Steven; Desmedt, Christine; Paradiso, Angelo; Eyfjord, Jorunn; Broeks, Annegien; Vincent-Salomon, Anne; Futreal, Andrew P.; Knappskog, Stian; King, Tari; Viari, Alain; Børresen-Dale, Anne-Lise; Stunnenberg, Hendrik G.; Stratton, Mike; Foekens, John A.; Sieuwerts, Anieta M.; Martens, John W.M. (Peer reviewed; Journal article, 2019)
      Circular RNAs (circRNAs) are a class of RNAs that is under increasing scrutiny, although their functional roles are debated. We analyzed RNA-seq data of 348 primary breast cancers and developed a method to identify circRNAs ...
    • DNA methylation profiling in doxorubicin treated primary locally advanced breast tumours identifies novel genes associated with survival and treatment response 

      Dejeux, Emelyne; Rønneberg, Jo A.; Solvang, Hiroko Kato; Bukholm, Ida Rashida Khan; Geisler, Stephanie; Aas, Turid; Gut, Ivo G.; Børresen-Dale, Anne-Lise; Lønning, Per Eystein; Kristensen, Vessela N.; Tost, Jörg (Peer reviewed; Journal article, 2010-03-25)
      Background: Breast cancer is the most frequent cancer in women and consists of a heterogeneous collection of diseases with distinct histopathological, genetic and epigenetic characteristics. In this study, we aimed to ...
    • Expression of full-length p53 and its isoform Δp53 in breast carcinomas in relation to mutation status and clinical parameters 

      Baumbusch, Lars O.; Myhre, Simen; Langerød, Anita; Bergamaschi, Anna; Geisler, Stephanie; Lønning, Per Eystein; Deppert, Wolfgang; Dornreiter, Irene; Børresen-Dale, Anne-Lise (Molecular Cancer 5(47), Peer reviewed; Journal article, 2006-10-20)
      Background: The tumor suppressor gene p53 (TP53) controls numerous signaling pathways and is frequently mutated in human cancers. Novel p53 isoforms suggest alternative splicing as a regulatory feature of p53 activity. ...
    • Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells 

      Ju, Young Seok; Tubio, José M.C.; Mifsud, William; Fu, Beiyuan; Davies, Helen R; Ramakrishna, Manasa; Li, Yilong; Yates, Lucy; Gundem, Gunes; Tarpey, Patrick S.; Behjati, Sam; Papaemmanuil, Elli; Martin, Sancha; Fullam, Anthony; Gerstung, Moritz; Nangalia, Jyoti; Green, Anthony R.; Caldas, Carlos; Borg, Åke; Tutt, Andrew; Michael Lee, Ming Ta; Van't Veer, Laura J.; Tan, Benita K.T.; Aparicio, Samuel; Span, Paul N.; Martens, John W.M.; Knappskog, Stian; Vincent-Salomon, Anne; Børresen-Dale, Anne-Lise; Eyfjörd, Jorunn Erla; Flanagan, Adrienne M.; Foster, Christopher; Neal, David E.; Cooper, Colin; Eeles, Rosalind; Lakhani, Sunil R.; Desmedt, Christine; Thomas, Gilles; Richardson, Andrea L.; Purdie, Colin A.; Thompson, Alastair M.; McDermott, Ultan; Yang, Fengtang; Nik-Zainal, Serena; Campbell, Peter J.; Stratton, Michael R. (Peer reviewed; Journal article, 2015)
      Mitochondrial genomes are separated from the nuclear genome for most of the cell cycle by the nuclear double membrane, intervening cytoplasm, and the mitochondrial double membrane. Despite these physical barriers, we show ...
    • Identification and characterization of retinoblastoma gene mutations disturbing apoptosis in human breast cancers 

      Berge, Elisabet Ognedal; Knappskog, Stian; Geisler, Stephanie; Staalesen, Vidar; Pacal, Marec; Børresen-Dale, Anne-Lise; Puntervoll, Pål; Lillehaug, Johan; Lønning, Per Eystein (Peer reviewed; Journal article, 2010-07-01)
      Background The tumor suppressor pRb plays a key role regulating cell cycle arrest, and disturbances in the RB1 gene have been reported in different cancer forms. However, the literature reports contradictory findings with ...
    • Multilocus analysis of SNP and metabolic data within a given pathway 

      Kristensen, Vessela N.; Tsalenko, Anya; Geisler, Jürgen; Faldaas, Anne; Grenaker, Grethe Irene; Lingjærde, Ole Christian; Fjeldstad, Ståle; Yakhini, Zohar; Lønning, Per Eystein; Børresen-Dale, Anne-Lise (BMC Genomics 7(5), Peer reviewed; Journal article, 2006-01-13)
      Background: Complex traits, which are under the influence of multiple and possibly interacting genes, have become a subject of new statistical methodological research. One of the greatest challenges facing human geneticists ...
    • The multitude of molecular analyses in cancer: the opening of Pandora’s box 

      Russnes, Hege Elisabeth Giercksky; Lønning, Per Eystein; Børresen-Dale, Anne-Lise; Lingjærde, Ole Christian (Peer reviewed; Journal article, 2014-09-03)
      The availability of large amounts of molecular data of unprecedented depth and width has instigated new paths of interdisciplinary activity in cancer research. Translation of such information to allow its optimal use in ...
    • Quantitative DNA methylation analyses reveal stage dependent DNA methylation and association to clinico-pathological factors in breast tumors 

      Klajic, Jovana; Fleischer, Thomas; Dejeux, Emelyne; Edvardsen, Hege; Warnberg, Fredrik; Bukholm, Ida Rashida Khan; Lønning, Per Eystein; Solvang, Hiroko Kato; Børresen-Dale, Anne-Lise; Tost, Jörg; Kristensen, Vessela N. (Peer reviewed; Journal article, 2013-10-05)
      Background: Aberrant DNA methylation of regulatory genes has frequently been found in human breast cancers and correlated to clinical outcome. In the present study we investigate stage specific changes in the DNA methylation ...
    • 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 ...
    • Sex differences in oncogenic mutational processes 

      Li, Constance H.; Prokopec, Stephenie D.; Sun, Ren X.; Yousif, Fouad; Schmitz, Nathaniel; Boutros, Paul C.; Aure, Miriam Ragle; Børresen-Dale, Anne-Lise; Langerød, Anita; Wright, Derek W.; Baumhoer, Daniel; Bjerkehagen, Bodil; Garred, Øystein; Lingjærde, Ole Christian; Sauer, Torill; Zaikova, Olga; Myklebost, Ola; Knappskog, Stian; Vazquez, Miguel; Van Loo, Peter (Journal article; Peer reviewed, 2020)
      Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features ...