Recent submissions

  • BEECH: A dose-finding run-in followed by a randomised phase 2 study assessing the efficacy of AKT inhibitor capivasertib (AZD5363) combined with paclitaxel in patients with oestrogen receptor-positive advanced or metastatic breast cancer, and in a PIK3CA mutant sub-population. 

    Turner, NC; Alarcón, E; Armstrong, AC; Philco, M; López Chuken, YA; Sablin, M-P; Tamura, K; Gómez Villanueva, A; Pérez-Fidalgo, JA; Cheung, SYA; Corcoran, C; Cullberg, M; Davies, BR; de Bruin, EC; Foxley, A; Lindemann, JPO; Maudsley, R; Moschetta, M; Outhwaite, E; Pass, M; Rugman, P; Schiavon, G; Oliveira, M (2019-03-12)
    BACKGROUND: BEECH investigated the efficacy of capivasertib (AZD5363), an oral inhibitor of AKT isoforms 1-3, in combination with first-line weekly paclitaxel for advanced or metastatic oestrogen receptor-positive (ER+)/human ...
  • Accountability in the NHS: the impact on cancer care. 

    Macklin-Doherty, A (2018)
    Accountability of service delivery is becoming increasingly complex and never has this been more apparent than in the field of Oncology. Cancer care has an unrivalled level of complexity not only in the heterogeneity of ...
  • Breast cancer risk prediction in women aged 35-50 years: impact of including sex hormone concentrations in the Gail model. 

    Clendenen, TV; Ge, W; Koenig, KL; Afanasyeva, Y; Agnoli, C; Brinton, LA; Darvishian, F; Dorgan, JF; Eliassen, AH; Falk, RT; Hallmans, G; Hankinson, SE; Hoffman-Bolton, J; Key, TJ; Krogh, V; Nichols, HB; Sandler, DP; Schoemaker, MJ; Sluss, PM; Sund, M; Swerdlow, AJ; Visvanathan, K; Zeleniuch-Jacquotte, A; Liu, M (2019-03-19)
    BACKGROUND: Models that accurately predict risk of breast cancer are needed to help younger women make decisions about when to begin screening. Premenopausal concentrations of circulating anti-Müllerian hormone (AMH), a ...
  • Comparison of protein expression between formalin-fixed core-cut biopsies and surgical excision specimens using a novel multiplex approach. 

    Leal, MF; Haynes, BP; MacNeill, FA; Dodson, A; Dowsett, M (2019-02-22)
    PURPOSE: We evaluated whether multiplex protein quantification using antibody bar-coding with photocleavable oligonucleotides (NanoString) can be applied to evaluate protein expression in breast cancer FFPE specimens. We ...
  • Circulating tumour DNA is a potential biomarker for disease progression and response to targeted therapy in advanced thyroid cancer. 

    Allin, DM; Shaikh, R; Carter, P; Thway, K; Sharabiani, MTA; Gonzales-de-Castro, D; O'Leary, B; Garcia-Murillas, I; Bhide, S; Hubank, M; Harrington, K; Kim, D; Newbold, K (2018-11)
    BACKGROUND: Conventional biomarkers in thyroid cancer are not disease specific and fluctuate in advanced disease, making interpretation difficult. Circulating tumour DNA (ctDNA) has been shown to be a useful biomarker in ...
  • ESR1 mutations in metastatic lobular breast cancer patients. 

    Desmedt, C; Pingitore, J; Rothé, F; Marchio, C; Clatot, F; Rouas, G; Richard, F; Bertucci, F; Mariani, O; Galant, C; Fribbens, C; O'Leary, B; van den Eynden, G; Salgado, R; Turner, NC; Piccart, M; Vincent-Salomon, A; Pruneri, G; Larsimont, D; Sotiriou, C (2019)
    Invasive lobular breast cancer (ILC) represents the second most common histology of breast cancer after invasive ductal breast cancer (IDC), accounts for up to 15% of all invasive cases and generally express the estrogen ...
  • Cyclin E1 Expression and Palbociclib Efficacy in Previously Treated Hormone Receptor-Positive Metastatic Breast Cancer. 

    Turner, NC; Liu, Y; Zhu, Z; Loi, S; Colleoni, M; Loibl, S; DeMichele, A; Harbeck, N; André, F; Bayar, MA; Michiels, S; Zhang, Z; Giorgetti, C; Arnedos, M; Huang Bartlett, C; Cristofanilli, M (2019-02-26)
    PURPOSE: A large-panel gene expression analysis was conducted to identify biomarkers associated with the effectiveness of adding palbociclib to fulvestrant. METHODS: The PALOMA-3 ( ClinicalTrials.gov identifier: NCT01942135) ...
  • Genome-wide association study of germline variants and breast cancer-specific mortality. 

    Escala-Garcia, M; Guo, Q; Dörk, T; Canisius, S; Keeman, R; Dennis, J; Beesley, J; Lecarpentier, J; Bolla, MK; Wang, Q; Abraham, J; Andrulis, IL; Anton-Culver, H; Arndt, V; Auer, PL; Beckmann, MW; Behrens, S; Benitez, J; Bermisheva, M; Bernstein, L; Blomqvist, C; Boeckx, B; Bojesen, SE; Bonanni, B; Børresen-Dale, A-L; Brauch, H; Brenner, H; Brentnall, A; Brinton, L; Broberg, P; Brock, IW; Brucker, SY; Burwinkel, B; Caldas, C; Caldés, T; Campa, D; Canzian, F; Carracedo, A; Carter, BD; Castelao, JE; Chang-Claude, J; Chanock, SJ; Chenevix-Trench, G; Cheng, T-YD; Chin, S-F; Clarke, CL; NBCS Collaborators; Cordina-Duverger, E; Couch, FJ; Cox, DG; Cox, A; Cross, SS; Czene, K; Daly, MB; Devilee, P; Dunn, JA; Dunning, AM; Durcan, L; Dwek, M; Earl, HM; Ekici, AB; Eliassen, AH; Ellberg, C; Engel, C; Eriksson, M; Evans, DG; Figueroa, J; Flesch-Janys, D; Flyger, H; Gabrielson, M; Gago-Dominguez, M; Galle, E; Gapstur, SM; García-Closas, M; García-Sáenz, JA; Gaudet, MM; George, A; Georgoulias, V; Giles, GG; Glendon, G; Goldgar, DE; González-Neira, A; Alnæs, GIG; Grip, M; Guénel, P; Haeberle, L; Hahnen, E; Haiman, CA; Håkansson, N; Hall, P; Hamann, U; Hankinson, S; Harkness, EF; Harrington, PA; Hart, SN; Hartikainen, JM; Hein, A; Hillemanns, P; Hiller, L; Holleczek, B; Hollestelle, A; Hooning, MJ; Hoover, RN; Hopper, JL; Howell, A; Huang, G; Humphreys, K; Hunter, DJ; Janni, W; John, EM; Jones, ME; Jukkola-Vuorinen, A; Jung, A; Kaaks, R; Kabisch, M; Kaczmarek, K; Kerin, MJ; Khan, S; Khusnutdinova, E; Kiiski, JI; Kitahara, CM; Knight, JA; Ko, Y-D; Koppert, LB; Kosma, V-M; Kraft, P; Kristensen, VN; Krüger, U; Kühl, T; Lambrechts, D; Le Marchand, L; Lee, E; Lejbkowicz, F; Li, L; Lindblom, A; Lindström, S; Linet, M; Lissowska, J; Lo, W-Y; Loibl, S; Lubiński, J; Lux, MP; MacInnis, RJ; Maierthaler, M; Maishman, T; Makalic, E; Mannermaa, A; Manoochehri, M; Manoukian, S; Margolin, S; Martinez, ME; Mavroudis, D; McLean, C; Meindl, A; Middha, P; Miller, N; Milne, RL; Moreno, F; Mulligan, AM; Mulot, C; Nassir, R; Neuhausen, SL; Newman, WT; Nielsen, SF; Nordestgaard, BG; Norman, A; Olsson, H; Orr, N; Pankratz, VS; Park-Simon, T-W; Perez, JIA; Pérez-Barrios, C; Peterlongo, P; Petridis, C; Pinchev, M; Prajzendanc, K; Prentice, R; Presneau, N; Prokofieva, D; Pylkäs, K; Rack, B; Radice, P; Ramachandran, D; Rennert, G; Rennert, HS; Rhenius, V; Romero, A; Roylance, R; Saloustros, E; Sawyer, EJ; Schmidt, DF; Schmutzler, RK; Schneeweiss, A; Schoemaker, MJ; Schumacher, F; Schwentner, L; Scott, RJ; Scott, C; Seynaeve, C; Shah, M; Simard, J; Smeets, A; Sohn, C; Southey, MC; Swerdlow, AJ; Talhouk, A; Tamimi, RM; Tapper, WJ; Teixeira, MR; Tengström, M; Terry, MB; Thöne, K; Tollenaar, RAEM; Tomlinson, I; Torres, D; Truong, T; Turman, C; Turnbull, C; Ulmer, H-U; Untch, M; Vachon, C; van Asperen, CJ; van den Ouweland, AMW; van Veen, EM; Wendt, C; Whittemore, AS; Willett, W; Winqvist, R; Wolk, A; Yang, XR; Zhang, Y; Easton, DF; Fasching, PA; Nevanlinna, H; Eccles, DM; Pharoah, PDP; Schmidt, MK (2019-03)
    BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. METHODS: Meta-analyses included summary estimates based on Cox models ...
  • CoverView: a sequence quality evaluation tool for next generation sequencing data. 

    Münz, M; Mahamdallie, S; Yost, S; Rimmer, A; Poyastro-Pearson, E; Strydom, A; Seal, S; Ruark, E; Rahman, N (2018)
    Quality assurance and quality control are essential for robust next generation sequencing (NGS). Here we present CoverView, a fast, flexible, user-friendly quality evaluation tool for NGS data. CoverView processes mapped ...
  • Identification and Characterization of Novel Receptor-Interacting Serine/Threonine-Protein Kinase 2 Inhibitors Using Structural Similarity Analysis. 

    Salla, M; Aguayo-Ortiz, R; Danmaliki, GI; Zare, A; Said, A; Moore, J; Pandya, V; Manaloor, R; Fong, S; Blankstein, AR; Gibson, SB; Garcia, LR; Meier, P; Bhullar, KS; Hubbard, BP; Fiteh, Y; Vliagoftis, H; Goping, IS; Brocks, D; Hwang, P; Velázquez-Martínez, CA; Baksh, S (2018-05)
    Receptor-interacting protein kinase 2 (RIP2 or RICK, herein referred to as RIPK2) is linked to the pathogen pathway that activates nuclear factor κ-light-chain-enhancer of activated B cells (NFκB) and autophagic activation. ...
  • Genomic alterations in breast cancer: level of evidence for actionability according to ESMO Scale for Clinical Actionability of molecular Targets (ESCAT). 

    Condorelli, R; Mosele, F; Verret, B; Bachelot, T; Bedard, PL; Cortes, J; Hyman, DM; Juric, D; Krop, I; Bieche, I; Saura, C; Sotiriou, C; Cardoso, F; Loibl, S; Andre, F; Turner, NC (2019-03-01)
    Better knowledge of the tumor genomic landscapes has helped to develop more effective targeted drugs. However, there is no tool to interpret targetability of genomic alterations assessed by next-generation sequencing in ...
  • The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. 

    Tatton-Brown, K; Zachariou, A; Loveday, C; Renwick, A; Mahamdallie, S; Aksglaede, L; Baralle, D; Barge-Schaapveld, D; Blyth, M; Bouma, M; Breckpot, J; Crabb, B; Dabir, T; Cormier-Daire, V; Fauth, C; Fisher, R; Gener, B; Goudie, D; Homfray, T; Hunter, M; Jorgensen, A; Kant, SG; Kirally-Borri, C; Koolen, D; Kumar, A; Labilloy, A; Lees, M; Marcelis, C; Mercer, C; Mignot, C; Miller, K; Neas, K; Newbury-Ecob, R; Pilz, DT; Posmyk, R; Prada, C; Ramsey, K; Randolph, LM; Selicorni, A; Shears, D; Suri, M; Temple, IK; Turnpenny, P; Val Maldergem, L; Varghese, V; Veenstra-Knol, HE; Yachelevich, N; Yates, L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study; Rahman, N (2018)
    Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive ...
  • The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing. 

    Mahamdallie, S; Ruark, E; Holt, E; Poyastro-Pearson, E; Renwick, A; Strydom, A; Seal, S; Rahman, N (2018)
    The analytical sensitivity of a next generation sequencing (NGS) test reflects the ability of the test to detect real sequence variation. The evaluation of analytical sensitivity relies on the availability of gold-standard, ...
  • Dysregulation of Alternative Poly-adenylation as a Potential Player in Autism Spectrum Disorder. 

    Szkop, KJ; Cooke, PIC; Humphries, JA; Kalna, V; Moss, DS; Schuster, EF; Nobeli, I (2017)
    We present here the hypothesis that alternative poly-adenylation (APA) is dysregulated in the brains of individuals affected by Autism Spectrum Disorder (ASD), due to disruptions in the calcium signaling networks. APA, the ...
  • The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assurance. 

    Mahamdallie, S; Ruark, E; Yost, S; Münz, M; Renwick, A; Poyastro-Pearson, E; Strydom, A; Seal, S; Rahman, N (2018)
    Next generation sequencing (NGS) is routinely used in clinical genetic testing. Quality management of NGS testing is essential to ensure performance is consistently and rigorously evaluated. Three primary metrics are used ...
  • Genomic instability and TP53 genomic alterations associate with poor anti-proliferative response and intrinsic resistance to aromatase inhibitor treatment 

    Schuster, E; Gellert, P; Segal, C; Lopez-Knowles, E; Buus, R; Cheang, M; Morden, J; Robertson, J; Bliss, J; Smith, I; Dowsett, M
  • Common and unique transcriptional responses to dietary restriction and loss of insulin receptor substrate 1 (IRS1) in mice. 

    Page, MM; Schuster, EF; Mudaliar, M; Herzyk, P; Withers, DJ; Selman, C (2018-05-20)
    Dietary restriction (DR) is the most widely studied non-genetic intervention capable of extending lifespan across multiple taxa. Modulation of genes, primarily within the insulin/insulin-like growth factor signalling (IIS) ...
  • ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series. 

    Ruark, E; Holt, E; Renwick, A; Münz, M; Wakeling, M; Ellard, S; Mahamdallie, S; Yost, S; Rahman, N (2018)
    Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial and academic NGS pipelines. Such assessments should be performed ...
  • The anticonvulsive Phenhydan® suppresses extrinsic cell death. 

    Moerke, C; Jaco, I; Dewitz, C; Müller, T; Jacobsen, AV; Gautheron, J; Fritsch, J; Schmitz, J; Bräsen, JH; Günther, C; Murphy, JM; Kunzendorf, U; Meier, P; Krautwald, S (2018-11-15)
    Different forms of regulated cell death-like apoptosis and necroptosis contribute to the pathophysiology of clinical conditions including ischemia-reperfusion injury, myocardial infarction, sepsis, and multiple sclerosis. ...

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