Now showing items 1-7 of 7

    • An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice. 

      Ellison, G; Ahdesmäki, M; Luke, S; Waring, PM; Wallace, A; Wright, R; Röthlisberger, B; Ludin, K; Merkelbach-Bruse, S; Heydt, C; Ligtenberg, MJL; Mensenkamp, AR; de Castro, DG; Jones, T; Vivancos, A; Kondrashova, O; Pauwels, P; Weyn, C; Hahnen, E; Hauke, J; Soong, R; Lai, Z; Dougherty, B; Carr, TH; Johnson, J; Mills, J; Barrett, JC (2018-03)
      Ovarian cancer patients with germline or somatic pathogenic variants benefit from treatment with poly ADP ribose polymerase (PARP) inhibitors. Tumor BRCA1/2 testing is more challenging than germline testing as the majority ...
    • Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes. 

      Tubio, JM; Li, Y; Ju, YS; Martincorena, I; Cooke, SL; Tojo, M; Gundem, G; Pipinikas, CP; Zamora, J; Raine, K; Menzies, A; Roman-Garcia, P; Fullam, A; Gerstung, M; Shlien, A; Tarpey, PS; Papaemmanuil, E; Knappskog, S; Van Loo, P; Ramakrishna, M; Davies, HR; Marshall, J; Wedge, DC; Teague, JW; Butler, AP; Nik-Zainal, S; Alexandrov, L; Behjati, S; Yates, LR; Bolli, N; Mudie, L; Hardy, C; Martin, S; McLaren, S; O'Meara, S; Anderson, E; Maddison, M; Gamble, S; Foster, C; Warren, AY; Whitaker, H; Brewer, D; Eeles, R; Cooper, C; Neal, D; Lynch, AG; Visakorpi, T; Isaacs, WB; van't Veer, L; Caldas, C; Desmedt, C; Sotiriou, C; Aparicio, S; Foekens, JA; Eyfjörd, JE; Lakhani, SR; Thomas, G; Myklebost, O; Span, PN; Børresen-Dale, AL; Richardson, AL; Van de Vijver, M; Vincent-Salomon, A; Van den Eynden, GG; Flanagan, AM; Futreal, PA; Janes, SM; Bova, GS; Stratton, MR; McDermott, U; Campbell, PJ (2014-08)
      Long interspersed nuclear element-1 (L1) retrotransposons are mobile repetitive elements that are abundant in the human genome. L1 elements propagate through RNA intermediates. In the germ line, neighboring, nonrepetitive ...
    • De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. 

      Jansen, S; Geuer, S; Pfundt, R; Brough, R; Ghongane, P; Herkert, JC; Marco, EJ; Willemsen, MH; Kleefstra, T; Hannibal, M; Shieh, JT; Lynch, SA; Flinter, F; FitzPatrick, DR; Gardham, A; Bernhard, B; Ragge, N; Newbury-Ecob, R; Bernier, R; Kvarnung, M; Magnusson, EAH; Wessels, MW; van Slegtenhorst, MA; Monaghan, KG; de Vries, P; Veltman, JA; Deciphering Developmental Disorders Study; Lord, CJ; Vissers, LELM; de Vries, BBA (2017-04-06)
      Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically ...
    • PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. 

      McConville, C; Reid, S; Baskcomb, L; Douglas, J; Rahman, N (2006-06)
      Neuroblastoma (NB) is an embryonal tumor originating from neural crest cells and is one of the most common solid tumors of childhood. Recently, constitutional mutations in PHOX2B have been shown to confer an increased risk ...
    • The regulatory isoform rPGRP-LC induces immune resolution via endosomal degradation of receptors. 

      Neyen, C; Runchel, C; Schüpfer, F; Meier, P; Lemaitre, B (2016-10)
      The innate immune system needs to distinguish between harmful and innocuous stimuli to adapt its activation to the level of threat. How Drosophila mounts differential immune responses to dead and live Gram-negative bacteria ...
    • Splicing imbalances in basal-like breast cancer underpin perturbation of cell surface and oncogenic pathways and are associated with patients' survival. 

      Gracio, F; Burford, B; Gazinska, P; Mera, A; Mohd Noor, A; Marra, P; Gillett, C; Grigoriadis, A; Pinder, S; Tutt, A; de Rinaldis, E (2017-01-06)
      Despite advancements in the use of transcriptional information to understand and classify breast cancers, the contribution of splicing to the establishment and progression of these tumours has only recently starting to ...