Recent submissions

Now showing items 1-20 of 2862

    • Mortality and cancer incidence in patients with balanced Robertsonian Translocations: a national cohort study 

      Schoemaker, M; Jones, ME; Swerdlow, A

    • Mortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: a prospective study. 

      Schoemaker, MJ; Jones, ME; Swerdlow, AJ

    • Mortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: a prospective study. 

      Schoemaker, MJ; Jones, ME; Higgins, CD; Wright, AF; UK Clinical Cytogenetics Group; Swerdlow, AJ (2018-11-29)
      The constitutional t(11;22)(q23;q11) translocation is the only recurrent non-Robertsonian translocation known in humans. Carriers are phenotypically normal and are usually referred for cytogenetic testing because of multiple ...

    • The genomic landscape of plasma cells in systemic light chain amyloidosis. 

      Boyle, EM; Ashby, C; Wardell, CP; Rowczenio, D; Sachchithanantham, S; Wang, Y; Johnson, SK; Bauer, MA; Weinhold, N; Kaiser, MF; Johnson, DC; Jones, JR; Pawlyn, C; Proszek, P; Schinke, C; Facon, T; Dumontet, C; Davies, FE; Morgan, GJ; Walker, BA; Wechalekar, AD (2018-11-16)

    • Loss of heterozygosity as a marker of homologous repair deficiency in multiple myeloma: a role for PARP inhibition? 

      Pawlyn, C; Loehr, A; Ashby, C; Tytarenko, R; Deshpande, S; Sun, J; Fedorchak, K; Mughal, T; Davies, FE; Walker, BA; Morgan, GJ (2018-07)
      PARP inhibitors can induce synthetic lethality in tumors characterized by homologous recombination deficiency (HRD), which can be detected by evaluating genome-wide loss of heterozygosity (LOH). Multiple myeloma (MM) is a ...

    • Isolated limb perfusion for unresectable extremity cutaneous squamous cell carcinoma; an effective limb saving strategy. 

      Huis In 't Veld, EA; Grünhagen, DJ; Deroose, JP; Nijsten, TEC; Wouters, MWJM; Verhoef, C; van Houdt, WJ; Hayes, AJ (2018-08)
      BACKGROUND: A small minority of patients present with locally advanced cutaneous Squamous Cell Carcinoma (cSCC). The aim of this study was to evaluate the effectiveness of Tumour necrosis factor α (TNF) and melphalan based ...

    • Structural basis for translocation by AddAB helicase-nuclease and its arrest at χ sites. 

      Krajewski, WW; Fu, X; Wilkinson, M; Cronin, NB; Dillingham, MS; Wigley, DB (2014-04)
      In bacterial cells, processing of double-stranded DNA breaks for repair by homologous recombination is dependent upon the recombination hotspot sequence χ (Chi) and is catalysed by either an AddAB- or RecBCD-type ...

    • Efficient Genotyping of KRAS Mutant Non-Small Cell Lung Cancer Using a Multiplexed Droplet Digital PCR Approach. 

      Pender, A; Garcia-Murillas, I; Rana, S; Cutts, RJ; Kelly, G; Fenwick, K; Kozarewa, I; Gonzalez de Castro, D; Bhosle, J; O'Brien, M; Turner, NC; Popat, S; Downward, J (2015-01)
      Droplet digital PCR (ddPCR) can be used to detect low frequency mutations in oncogene-driven lung cancer. The range of KRAS point mutations observed in NSCLC necessitates a multiplex approach to efficient mutation detection ...

    • A first in man, dose-finding study of the mTORC1/mTORC2 inhibitor OSI-027 in patients with advanced solid malignancies. 

      Mateo, J; Olmos, D; Dumez, H; Poondru, S; Samberg, NL; Barr, S; Van Tornout, JM; Jie, F; Sandhu, S; Tan, DS; Moreno, V; LoRusso, PM; Kaye, SB; Schöffski, P (2016-04-12)
      BACKGROUND: The kinase activity of mTOR involves 2 multiprotein complexes, (mTORC1-mTORC2). Targeting mTORC1 with rapalogues induces compensatory feedback loops resulting in AKT/ERK activation, which may be abrogated by ...

    • Anthracycline, Gemcitabine, and Pazopanib in Epithelioid Sarcoma: A Multi-institutional Case Series. 

      Frezza, AM; Jones, RL; Lo Vullo, S; Asano, N; Lucibello, F; Ben-Ami, E; Ratan, R; Teterycz, P; Boye, K; Brahmi, M; Palmerini, E; Fedenko, A; Vincenzi, B; Brunello, A; Desar, IME; Benjamin, RS; Blay, JY; Broto, JM; Casali, PG; Gelderblom, H; Grignani, G; Gronchi, A; Hall, KS; Mir, O; Rutkowski, P; Wagner, AJ; Anurova, O; Collini, P; Dei Tos, AP; Flucke, U; Hornick, JL; Lobmaier, I; Philippe, T; Picci, P; Ranchere, D; Renne, SL; Sbaraglia, M; Thway, K; Wagrodzki, M; Wang, W-L; Yoshida, A; Mariani, L; Kawai, A; Stacchiotti, S (2018-09-01)
      Importance: Epithelioid sarcoma (ES) is an exceedingly rare malignant neoplasm with distinctive pathologic, molecular, and clinical features as well as the potential to respond to new targeted drugs. Little is known on the ...

    • Regulation of Wnt/β-catenin signalling by tankyrase-dependent poly(ADP-ribosyl)ation and scaffolding. 

      Mariotti, L; Pollock, K; Guettler, S (2017-12)
      The Wnt/β-catenin signalling pathway is pivotal for stem cell function and the control of cellular differentiation, both during embryonic development and tissue homeostasis in adults. Its activity is carefully controlled ...

    • Regulation of Wnt/β-catenin signalling by tankyrase-dependent poly(ADP-ribosyl)ation and scaffolding. 

      Mariotti, L; Pollock, K; Guettler, S (2017-12)
      The Wnt/β-catenin signalling pathway is pivotal for stem cell function and the control of cellular differentiation, both during embryonic development and tissue homeostasis in adults. Its activity is carefully controlled ...

    • MicroRNAs as Mediators of Resistance Mechanisms to Small-Molecule Tyrosine Kinase Inhibitors in Solid Tumours. 

      Ghidini, M; Hahne, JC; Frizziero, M; Tomasello, G; Trevisani, F; Lampis, A; Passalacqua, R; Valeri, N (2018-08)
      Receptor tyrosine kinases (RTKs) are widely expressed transmembrane proteins that act as receptors for growth factors and other extracellular signalling molecules. Upon ligand binding, RTKs activate intracellular signalling ...

    • Addition of dose-intensified doxorubicin to standard chemotherapy for rhabdomyosarcoma (EpSSG RMS 2005): a multicentre, open-label, randomised controlled, phase 3 trial. 

      Bisogno, G; Jenney, M; Bergeron, C; Gallego Melcón, S; Ferrari, A; Oberlin, O; Carli, M; Stevens, M; Kelsey, A; De Paoli, A; Gaze, MN; Martelli, H; Devalck, C; Merks, JH; Ben-Arush, M; Glosli, H; Chisholm, J; Orbach, D; Minard-Colin, V; De Salvo, GL; European paediatric Soft tissue sarcoma Study Group (2018-08)
      BACKGROUND: Rhabdomyosarcoma is an aggressive tumour that can develop in almost any part of the body. Doxorubicin is an effective drug against rhabdomyosarcoma, but its role in combination with an established multidrug ...

    • Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer. 

      Orlando, G; Law, PJ; Cornish, AJ; Dobbins, SE; Chubb, D; Broderick, P; Litchfield, K; Hariri, F; Pastinen, T; Osborne, CS; Taipale, J; Houlston, RS (2018-10)
      Efforts are being directed to systematically analyze the non-coding regions of the genome for cancer-driving mutations1-6. cis-regulatory elements (CREs) represent a highly enriched subset of the non-coding regions of the ...

    • Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study. 

      Adams, C; Richmond, RC; Santos Ferreira, DL; Spiller, W; Tan, VY; Zheng, J; Wurtz, P; Donovan, JL; Hamdy, FC; Neal, DE; Lane, JA; Davey Smith, G; Relton, CL; Eeles, RA; Henderson, BE; Haiman, CA; Kote-Jarai, Z; Schumacher, FR; Amin Al Olama, A; Benlloch, S; Muir, K; Berndt, SI; Conti, DV; Wiklund, F; Chanock, SJ; Gapstur, SM; Stevens, VL; Tangen, CM; Batra, J; Clements, JA; Grönberg, H; Pashayan, N; Schleutker, J; Albanes, D; Wolk, A; West, CML; Mucci, LA; Cancel-Tassin, G; Koutros, S; Sørensen, KD; Maehle, L; Travis, RC; Hamilton, R; Ingles, SA; Rosenstein, BS; Lu, Y-J; Giles, GG; Kibel, AS; Vega, A; Kogevinas, M; Penney, KL; Park, JY; Stanford, JL; Cybulski, C; Nordestgaard, BG; Brenner, H; Maier, C; Kim, J; John, EM; Teixeira, MR; Neuhausen, SL; DeRuyck, K; Razack, A; Newcomb, LF; Lessel, D; Kaneva, RP; Usmani, N; Claessens, F; Townsend, P; Gago Dominguez, M; Roobol, MJ; Menegaux, F; Khaw, K-T; Cannon-Albright, LA; Pandha, H; Thibodeau, SN; Martin, RM (2018-10-23)
      BACKGROUND: Whether associations between circulating metabolites and prostate cancer are causal is unknown. We report on the largest study of metabolites and prostate cancer (2,291 cases and 2,661 controls) and appraise ...

    • Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study 

      Copson, ER; Maishman, TC; Tapper, WJ; Cutress, RI; Greville-Heygate, S; Altman, DG; Eccles, B; Gerty, S; Durcan, LT; Jones, L; Evans, DG; Thompson, AM; Pharoah, P; Easton, DF; Dunning, AM; Hanby, A; Lakhani, S; Eeles, R; Gilbert, FJ; Hamed, H; Hodgson, S; Simmonds, P; Stanton, L; Eccles, DM (Elsevier BV, 2018-02)

    • Germline variation at 8q24 and prostate cancer risk in men of European ancestry. 

      Matejcic, M; Saunders, EJ; Dadaev, T; Brook, MN; Wang, K; Sheng, X; Olama, AAA; Schumacher, FR; Ingles, SA; Govindasami, K; Benlloch, S; Berndt, SI; Albanes, D; Koutros, S; Muir, K; Stevens, VL; Gapstur, SM; Tangen, CM; Batra, J; Clements, J; Gronberg, H; Pashayan, N; Schleutker, J; Wolk, A; West, C; Mucci, L; Kraft, P; Cancel-Tassin, G; Sorensen, KD; Maehle, L; Grindedal, EM; Strom, SS; Neal, DE; Hamdy, FC; Donovan, JL; Travis, RC; Hamilton, RJ; Rosenstein, B; Lu, Y-J; Giles, GG; Kibel, AS; Vega, A; Bensen, JT; Kogevinas, M; Penney, KL; Park, JY; Stanford, JL; Cybulski, C; Nordestgaard, BG; Brenner, H; Maier, C; Kim, J; Teixeira, MR; Neuhausen, SL; De Ruyck, K; Razack, A; Newcomb, LF; Lessel, D; Kaneva, R; Usmani, N; Claessens, F; Townsend, PA; Dominguez, MG; Roobol, MJ; Menegaux, F; Khaw, K-T; Cannon-Albright, LA; Pandha, H; Thibodeau, SN; Schaid, DJ; PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium; Wiklund, F; Chanock, SJ; Easton, DF; Eeles, RA; Kote-Jarai, Z; Conti, DV; Haiman, CA (2018-11-05)
      Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ...

    • A Review of Prostate Cancer Genome-Wide Association Studies (GWAS). 

      Benafif, S; Kote-Jarai, Z; Eeles, RA; PRACTICAL Consortium (2018-08)
      Prostate cancer is the most common cancer in men in Europe and the United States. The genetic heritability of prostate cancer is contributed to by both rarely occurring genetic variants with higher penetrance and moderate ...

    • Targeted Alpha Therapy, an Emerging Class of Cancer Agents: A Review. 

      Targeted Alpha Therapy Working Group; Parker, C; Lewington, V; Shore, N; Kratochwil, C; Levy, M; Lindén, O; Noordzij, W; Park, J; Saad, F (2018-09-20)
      Importance: Targeted alpha therapy attempts to deliver systemic radiation selectively to cancer cells while minimizing systemic toxic effects and may lead to additional treatment options for many cancer types. Observations: ...