Now showing items 1-13 of 13

    • ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma. 

      Rashid, M; van der Horst, M; Mentzel, T; Butera, F; Ferreira, I; Pance, A; Rütten, A; Luzar, B; Marusic, Z; de Saint Aubain, N; Ko, JS; Billings, SD; Chen, S; Abi Daoud, M; Hewinson, J; Louzada, S; Harms, PW; Cerretelli, G; Robles-Espinoza, CD; Patel, RM; van der Weyden, L; Bakal, C; Hornick, JL; Arends, MJ; Brenn, T; Adams, DJ (2019-05-17)
      Spiradenoma and cylindroma are distinctive skin adnexal tumors with sweat gland differentiation and potential for malignant transformation and aggressive behaviour. We present the genomic analysis of 75 samples from 57 ...
    • Analysis of Circulating Cell-Free DNA Identifies Multiclonal Heterogeneity of BRCA2 Reversion Mutations Associated with Resistance to PARP Inhibitors. 

      Quigley, D; Alumkal, JJ; Wyatt, AW; Kothari, V; Foye, A; Lloyd, P; Aggarwal, R; Kim, W; Lu, E; Schwartzman, J; Beja, K; Annala, M; Das, R; Diolaiti, M; Pritchard, C; Thomas, G; Tomlins, S; Knudsen, K; Lord, CJ; Ryan, C; Youngren, J; Beer, TM; Ashworth, A; Small, EJ; Feng, FY (2017-09)
      Approximately 20% of metastatic prostate cancers harbor mutations in genes required for DNA repair by homologous recombination repair (HRR) such as BRCA2 HRR defects confer synthetic lethality to PARP inhibitors (PARPi) ...
    • Circulating Cell-Free DNA to Guide Prostate Cancer Treatment with PARP Inhibition. 

      Goodall, J; Mateo, J; Yuan, W; Mossop, H; Porta, N; Miranda, S; Perez-Lopez, R; Dolling, D; Robinson, DR; Sandhu, S; Fowler, G; Ebbs, B; Flohr, P; Seed, G; Rodrigues, DN; Boysen, G; Bertan, C; Atkin, M; Clarke, M; Crespo, M; Figueiredo, I; Riisnaes, R; Sumanasuriya, S; Rescigno, P; Zafeiriou, Z; Sharp, A; Tunariu, N; Bianchini, D; Gillman, A; Lord, CJ; Hall, E; Chinnaiyan, AM; Carreira, S; de Bono, JS; TOPARP-A investigators (2017-09)
      Biomarkers for more precise patient care are needed in metastatic prostate cancer. We have reported a phase II trial (TOPARP-A) of the PARP inhibitor olaparib in metastatic prostate cancer, demonstrating antitumor activity ...
    • Clonal evolution in myeloma: the impact of maintenance lenalidomide and depth of response on the genetics and sub-clonal structure of relapsed disease in uniformly treated newly diagnosed patients. 

      Jones, JR; Weinhold, N; Ashby, C; Walker, BA; Wardell, C; Pawlyn, C; Rasche, L; Melchor, L; Cairns, DA; Gregory, WM; Johnson, D; Begum, DB; Ellis, S; Sherborne, AL; Cook, G; Kaiser, MF; Drayson, MT; Owen, RG; Jackson, GH; Davies, FE; Greaves, M; Morgan, GJ; NCRI Haemato-Oncology CSG (2019-07)
      The emergence of treatment resistant sub-clones is a key feature of relapse in multiple myeloma. Therapeutic attempts to extend remission and prevent relapse include maximizing response and the use of maintenance therapy. ...
    • Detection of circulating tumour cell clusters in human glioblastoma. 

      Krol, I; Castro-Giner, F; Maurer, M; Gkountela, S; Szczerba, BM; Scherrer, R; Coleman, N; Carreira, S; Bachmann, F; Anderson, S; Engelhardt, M; Lane, H; Evans, TRJ; Plummer, R; Kristeleit, R; Lopez, J; Aceto, N (2018-08)
      Human glioblastoma (GBM) is a highly aggressive, invasive and hypervascularised malignant brain cancer. Individual circulating tumour cells (CTCs) are sporadically found in GBM patients, yet it is unclear whether multicellular ...
    • Evolutionary dynamics of residual disease in human glioblastoma. 

      Spiteri, I; Caravagna, G; Cresswell, GD; Vatsiou, A; Nichol, D; Acar, A; Ermini, L; Chkhaidze, K; Werner, B; Mair, R; Brognaro, E; Verhaak, RGW; Sanguinetti, G; Piccirillo, SGM; Watts, C; Sottoriva, A (2019-03)
      BACKGROUND:Glioblastoma is the most common and aggressive adult brain malignancy against which conventional surgery and chemoradiation provide limited benefit. Even when a good treatment response is obtained, recurrence ...
    • Gene Copy Number Estimation from Targeted Next-Generation Sequencing of Prostate Cancer Biopsies: Analytic Validation and Clinical Qualification. 

      Seed, G; Yuan, W; Mateo, J; Carreira, S; Bertan, C; Lambros, M; Boysen, G; Ferraldeschi, R; Miranda, S; Figueiredo, I; Riisnaes, R; Crespo, M; Rodrigues, DN; Talevich, E; Robinson, DR; Kunju, LP; Wu, Y-M; Lonigro, R; Sandhu, S; Chinnaiyan, AM; de Bono, JS (2017-10)
      Purpose: Precise detection of copy number aberrations (CNA) from tumor biopsies is critically important to the treatment of metastatic prostate cancer. The use of targeted panel next-generation sequencing (NGS) is inexpensive, ...
    • Genomic landscape of platinum resistant and sensitive testicular cancers. 

      Loveday, C; Litchfield, K; Proszek, PZ; Cornish, AJ; Santo, F; Levy, M; Macintyre, G; Holryod, A; Broderick, P; Dudakia, D; Benton, B; Bakir, MA; Hiley, C; Grist, E; Swanton, C; Huddart, R; Powles, T; Chowdhury, S; Shipley, J; O'Connor, S; Brenton, JD; Reid, A; de Castro, DG; Houlston, RS; Turnbull, C (2020-05-04)
      While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and ...
    • Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation. 

      Gellert, P; Segal, CV; Gao, Q; López-Knowles, E; Martin, L-A; Dodson, A; Li, T; Miller, CA; Lu, C; Mardis, ER; Gillman, A; Morden, J; Graf, M; Sidhu, K; Evans, A; Shere, M; Holcombe, C; McIntosh, SA; Bundred, N; Skene, A; Maxwell, W; Robertson, J; Bliss, JM; Smith, I; Dowsett, M; POETIC Trial Management Group and Trialists (2016-11-09)
      Pre-surgical studies allow study of the relationship between mutations and response of oestrogen receptor-positive (ER+) breast cancer to aromatase inhibitors (AIs) but have been limited to small biopsies. Here in phase I ...
    • Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene. 

      Litchfield, K; Loveday, C; Levy, M; Dudakia, D; Rapley, E; Nsengimana, J; Bishop, DT; Reid, A; Huddart, R; Broderick, P; Houlston, RS; Turnbull, C (2018-06)
      Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To ...
    • Mutational processes contributing to the development of multiple myeloma. 

      Hoang, PH; Cornish, AJ; Dobbins, SE; Kaiser, M; Houlston, RS (2019-08-06)
      To gain insight into multiple myeloma (MM) tumorigenesis, we analyzed the mutational signatures in 874 whole-exome and 850 whole-genome data from the CoMMpass Study. We identified that coding and non-coding regions are ...
    • Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. 

      Litchfield, K; Levy, M; Dudakia, D; Proszek, P; Shipley, C; Basten, S; Rapley, E; Bishop, DT; Reid, A; Huddart, R; Broderick, P; Castro, DGD; O'Connor, S; Giles, RH; Houlston, RS; Turnbull, C (2016-12-20)
      Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases ...
    • Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease. 

      Mijuskovic, M; Saunders, EJ; Leongamornlert, DA; Wakerell, S; Whitmore, I; Dadaev, T; Cieza-Borrella, C; Govindasami, K; Brook, MN; Haiman, CA; Conti, DV; Eeles, RA; Kote-Jarai, Z (2018-07)
      BACKGROUND:Prostate cancer (PrCa) demonstrates a heterogeneous clinical presentation ranging from largely indolent to lethal. We sought to identify a signature of rare inherited variants that distinguishes between these ...