Now showing items 1-20 of 44

    • Baseline clinical predictors of antitumor response to the PARP inhibitor olaparib in germline BRCA1/2 mutated patients with advanced ovarian cancer. 

      Rafii, S; Gourley, C; Kumar, R; Geuna, E; Ern Ang, J; Rye, T; Chen, L-M; Shapira-Frommer, R; Friedlander, M; Matulonis, U; De Greve, J; Oza, AM; Banerjee, S; Molife, LR; Gore, ME; Kaye, SB; Yap, TA (2017-07)
      The PARP inhibitor olaparib was recently granted Food and Drug Administration (FDA) accelerated approval in patients with advanced BRCA1/2 mutation ovarian cancer. However, antitumor responses are observed in only approximately ...
    • BRCA1 and BRCA2 tumor suppressors protect against endogenous acetaldehyde toxicity. 

      Tacconi, EM; Lai, X; Folio, C; Porru, M; Zonderland, G; Badie, S; Michl, J; Sechi, I; Rogier, M; Matía García, V; Batra, AS; Rueda, OM; Bouwman, P; Jonkers, J; Ryan, A; Reina-San-Martin, B; Hui, J; Tang, N; Bruna, A; Biroccio, A; Tarsounas, M (2017-10)
      Maintenance of genome integrity requires the functional interplay between Fanconi anemia (FA) and homologous recombination (HR) repair pathways. Endogenous acetaldehyde, a product of cellular metabolism, is a potent source ...
    • BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. 

      Shimelis, H; Mesman, RLS; Von Nicolai, C; Ehlen, A; Guidugli, L; Martin, C; Calléja, FMGR; Meeks, H; Hallberg, E; Hinton, J; Lilyquist, J; Hu, C; Aalfs, CM; Aittomäki, K; Andrulis, I; Anton-Culver, H; Arndt, V; Beckmann, MW; Benitez, J; Bogdanova, NV; Bojesen, SE; Bolla, MK; Borresen-Dale, A-L; Brauch, H; Brennan, P; Brenner, H; Broeks, A; Brouwers, B; Brüning, T; Burwinkel, B; Chang-Claude, J; Chenevix-Trench, G; Cheng, C-Y; Choi, J-Y; Collée, JM; Cox, A; Cross, SS; Czene, K; Darabi, H; Dennis, J; Dörk, T; Dos-Santos-Silva, I; Dunning, AM; Fasching, PA; Figueroa, J; Flyger, H; García-Closas, M; Giles, GG; Glendon, G; Guénel, P; Haiman, CA; Hall, P; Hamann, U; Hartman, M; Hogervorst, FB; Hollestelle, A; Hopper, JL; Ito, H; Jakubowska, A; Kang, D; Kosma, V-M; Kristensen, V; Lai, K-N; Lambrechts, D; Marchand, LL; Li, J; Lindblom, A; Lophatananon, A; Lubinski, J; Machackova, E; Mannermaa, A; Margolin, S; Marme, F; Matsuo, K; Miao, H; Michailidou, K; Milne, RL; Muir, K; Neuhausen, SL; Nevanlinna, H; Olson, JE; Olswold, C; Oosterwijk, JJC; Osorio, A; Peterlongo, P; Peto, J; Pharoah, PDP; Pylkäs, K; Radice, P; Rashid, MU; Rhenius, V; Rudolph, A; Sangrajrang, S; Sawyer, EJ; Schmidt, MK; Schoemaker, MJ; Seynaeve, C; Shah, M; Shen, C-Y; Shrubsole, M; Shu, X-O; Slager, S; Southey, MC; Stram, DO; Swerdlow, A; Teo, SH; Tomlinson, I; Torres, D; Truong, T; van Asperen, CJ; van der Kolk, LE; Wang, Q; Winqvist, R; Wu, AH; Yu, J-C; Zheng, W; Zheng, Y; Leary, J; Walker, L; Foretova, L; Fostira, F; Claes, KBM; Varesco, L; Moghadasi, S; Easton, DF; Spurdle, A; Devilee, P; Vrieling, H; Monteiro, ANA; Goldgar, DE; Carreira, A; Vreeswijk, MPG; Couch, FJ; for kConFab/AOCS Investigators; for NBCS Collaborators (2017-06)
      Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between ...
    • Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial. 

      Tutt, A; Tovey, H; Cheang, MCU; Kernaghan, S; Kilburn, L; Gazinska, P; Owen, J; Abraham, J; Barrett, S; Barrett-Lee, P; Brown, R; Chan, S; Dowsett, M; Flanagan, JM; Fox, L; Grigoriadis, A; Gutin, A; Harper-Wynne, C; Hatton, MQ; Hoadley, KA; Parikh, J; Parker, P; Perou, CM; Roylance, R; Shah, V; Shaw, A; Smith, IE; Timms, KM; Wardley, AM; Wilson, G; Gillett, C; Lanchbury, JS; Ashworth, A; Rahman, N; Harries, M; Ellis, P; Pinder, SE; Bliss, JM (2018-05)
      Germline mutations in BRCA1/2 predispose individuals to breast cancer (termed germline-mutated BRCA1/2 breast cancer, gBRCA-BC) by impairing homologous recombination (HR) and causing genomic instability. HR also repairs ...
    • Chemosensitivity profiling of osteosarcoma tumour cell lines identifies a model of BRCAness. 

      Holme, H; Gulati, A; Brough, R; Fleuren, EDG; Bajrami, I; Campbell, J; Chong, IY; Costa-Cabral, S; Elliott, R; Fenton, T; Frankum, J; Jones, SE; Menon, M; Miller, R; Pemberton, HN; Postel-Vinay, S; Rafiq, R; Selfe, JL; von Kriegsheim, A; Munoz, AG; Rodriguez, J; Shipley, J; van der Graaf, WTA; Williamson, CT; Ryan, CJ; Pettitt, S; Ashworth, A; Strauss, SJ; Lord, CJ (2018-07-13)
      Osteosarcoma (OS) is an aggressive sarcoma, where novel treatment approaches are required. Genomic studies suggest that a subset of OS, including OS tumour cell lines (TCLs), exhibit genomic loss of heterozygosity (LOH) ...
    • Complementary genetic screens identify the E3 ubiquitin ligase CBLC, as a modifier of PARP inhibitor sensitivity. 

      Frankum, J; Moudry, P; Brough, R; Hodny, Z; Ashworth, A; Bartek, J; Lord, CJ (2015-05)
      Based on a series of basic, preclinical and clinical studies, the Poly (ADP-ribose) Polymerase 1 (PARP1) inhibitor, olaparib, has recently been approved for use in ovarian cancer patients with BRCA1 or BRCA2 mutations. By ...
    • A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer. 

      Eccleston, A; Bentley, A; Dyer, M; Strydom, A; Vereecken, W; George, A; Rahman, N (2017-04)
      OBJECTIVES:To evaluate the long-term cost-effectiveness of germline BRCA1 and BRCA2 (collectively termed "BRCA") testing in women with epithelial ovarian cancer, and testing for the relevant mutation in first- and second-degree ...
    • A Cross-Cancer Genetic Association Analysis of the DNA Repair and DNA Damage Signaling Pathways for Lung, Ovary, Prostate, Breast, and Colorectal Cancer. 

      Scarbrough, PM; Weber, RP; Iversen, ES; Brhane, Y; Amos, CI; Kraft, P; Hung, RJ; Sellers, TA; Witte, JS; Pharoah, P; Henderson, BE; Gruber, SB; Hunter, DJ; Garber, JE; Joshi, AD; McDonnell, K; Easton, DF; Eeles, R; Kote-Jarai, Z; Muir, K; Doherty, JA; Schildkraut, JM (2016-01)
      DNA damage is an established mediator of carcinogenesis, although genome-wide association studies (GWAS) have identified few significant loci. This cross-cancer site, pooled analysis was performed to increase the power to ...
    • CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting. 

      Münz, M; Ruark, E; Renwick, A; Ramsay, E; Clarke, M; Mahamdallie, S; Cloke, V; Seal, S; Strydom, A; Lunter, G; Rahman, N (2015-07-28)
      Next-generation sequencing (NGS) offers unprecedented opportunities to expand clinical genomics. It also presents challenges with respect to integration with data from other sequencing methods and historical data. Provision ...
    • A decade of clinical development of PARP inhibitors in perspective. 

      Mateo, J; Lord, CJ; Serra, V; Tutt, A; Balmaña, J; Castroviejo-Bermejo, M; Cruz, C; Oaknin, A; Kaye, SB; de Bono, JS (2019-09)
      Genomic instability is a hallmark of cancer, and often is the result of altered DNA repair capacities in tumour cells. DNA damage repair defects are common in different cancer types; these alterations can also induce ...
    • Dissecting PARP inhibitor resistance with functional genomics. 

      Pettitt, SJ; Lord, CJ (2019-02)
      The poly-(ADP-ribose) polymerase (PARP) inhibitor (PARPi) olaparib was the first licenced cancer drug that targeted an inherited form of cancer, namely ovarian cancers caused by germline BRCA1 or BRCA2 gene mutations. ...
    • Diverse BRCA1 and BRCA2 Reversion Mutations in Circulating Cell-Free DNA of Therapy-Resistant Breast or Ovarian Cancer. 

      Weigelt, B; Comino-Méndez, I; de Bruijn, I; Tian, L; Meisel, JL; García-Murillas, I; Fribbens, C; Cutts, R; Martelotto, LG; Ng, CKY; Lim, RS; Selenica, P; Piscuoglio, S; Aghajanian, C; Norton, L; Murali, R; Hyman, DM; Borsu, L; Arcila, ME; Konner, J; Reis-Filho, JS; Greenberg, RA; Robson, ME; Turner, NC (2017-11)
      Purpose: Resistance to platinum-based chemotherapy or PARP inhibition in germline BRCA1 or BRCA2 mutation carriers may occur through somatic reversion mutations or intragenic deletions that restore BRCA1 or BRCA2 function. ...
    • DNA Repair in Prostate Cancer: Biology and Clinical Implications. 

      Mateo, J; Boysen, G; Barbieri, CE; Bryant, HE; Castro, E; Nelson, PS; Olmos, D; Pritchard, CC; Rubin, MA; de Bono, JS (2017-03)
      CONTEXT:For more precise, personalized care in prostate cancer (PC), a new classification based on molecular features relevant for prognostication and treatment stratification is needed. Genomic aberrations in the DNA ...
    • Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer. 

      Kemp, Z; Turnbull, A; Yost, S; Seal, S; Mahamdallie, S; Poyastro-Pearson, E; Warren-Perry, M; Eccleston, A; Tan, M-M; Teo, SH; Turner, N; Strydom, A; George, A; Rahman, N (2019-05-03)
      Importance:Increasing BRCA1 and BRCA2 (collectively termed herein as BRCA) gene testing is required to improve cancer management and prevent BRCA-related cancers. Objective:To evaluate mainstream genetic testing using ...
    • 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 ...
    • EXD2 Protects Stressed Replication Forks and Is Required for Cell Viability in the Absence of BRCA1/2. 

      Nieminuszczy, J; Broderick, R; Bellani, MA; Smethurst, E; Schwab, RA; Cherdyntseva, V; Evmorfopoulou, T; Lin, Y-L; Minczuk, M; Pasero, P; Gagos, S; Seidman, MM; Niedzwiedz, W (2019-08)
      Accurate DNA replication is essential to preserve genomic integrity and prevent chromosomal instability-associated diseases including cancer. Key to this process is the cells' ability to stabilize and restart stalled ...
    • 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 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)
      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 ...
    • Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients. 

      Capoluongo, E; Ellison, G; López-Guerrero, JA; Penault-Llorca, F; Ligtenberg, MJL; Banerjee, S; Singer, C; Friedman, E; Markiefka, B; Schirmacher, P; Büttner, R; van Asperen, CJ; Ray-Coquard, I; Endris, V; Kamel-Reid, S; Percival, N; Bryce, J; Röthlisberger, B; Soong, R; de Castro, DG (2017-06)
      The approval, in 2015, of the first poly (adenosine diphosphate-ribose) polymerase inhibitor (PARPi; olaparib, Lynparza) for platinum-sensitive relapsed high-grade ovarian cancer with either germline or somatic BRCA1/2 ...
    • Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. 

      Qian, F; Wang, S; Mitchell, J; McGuffog, L; Barrowdale, D; Leslie, G; Oosterwijk, JC; Chung, WK; Evans, DG; Engel, C; Kast, K; Aalfs, CM; Adank, MA; Adlard, J; Agnarsson, BA; Aittomäki, K; Alducci, E; Andrulis, IL; Arun, BK; Ausems, MGEM; Azzollini, J; Barouk-Simonet, E; Barwell, J; Belotti, M; Benitez, J; Berger, A; Borg, A; Bradbury, AR; Brunet, J; Buys, SS; Caldes, T; Caligo, MA; Campbell, I; Caputo, SM; Chiquette, J; Claes, KBM; Margriet Collée, J; Couch, FJ; Coupier, I; Daly, MB; Davidson, R; Diez, O; Domchek, SM; Donaldson, A; Dorfling, CM; Eeles, R; Feliubadaló, L; Foretova, L; Fowler, J; Friedman, E; Frost, D; Ganz, PA; Garber, J; Garcia-Barberan, V; Glendon, G; Godwin, AK; Gómez Garcia, EB; Gronwald, J; Hahnen, E; Hamann, U; Henderson, A; Hendricks, CB; Hopper, JL; Hulick, PJ; Imyanitov, EN; Isaacs, C; Izatt, L; Izquierdo, Á; Jakubowska, A; Kaczmarek, K; Kang, E; Karlan, BY; Kets, CM; Kim, S-W; Kim, Z; Kwong, A; Laitman, Y; Lasset, C; Hyuk Lee, M; Won Lee, J; Lee, J; Lester, J; Lesueur, F; Loud, JT; Lubinski, J; Mebirouk, N; Meijers-Heijboer, HEJ; Meindl, A; Miller, A; Montagna, M; Mooij, TM; Morrison, PJ; Mouret-Fourme, E; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Niederacher, D; Nielsen, FC; Nussbaum, RL; Offit, K; Olah, E; Ong, K-R; Ottini, L; Park, SK; Peterlongo, P; Pfeiler, G; Phelan, CM; Poppe, B; Pradhan, N; Radice, P; Ramus, SJ; Rantala, J; Robson, M; Rodriguez, GC; Schmutzler, RK; Hutten Selkirk, CG; Shah, PD; Simard, J; Singer, CF; Sokolowska, J; Stoppa-Lyonnet, D; Sutter, C; Yen Tan, Y; Teixeira, RM; Teo, SH; Terry, MB; Thomassen, M; Tischkowitz, M; Toland, AE; Tucker, KM; Tung, N; van Asperen, CJ; van Engelen, K; van Rensburg, EJ; Wang-Gohrke, S; Wappenschmidt, B; Weitzel, JN; Yannoukakos, D; GEMO Study Collaborators; HEBON; EMBRACE; Greene, MH; Rookus, MA; Easton, DF; Chenevix-Trench, G; Antoniou, AC; Goldgar, DE; Olopade, OI; Rebbeck, TR; Huo, D (2019-04)
      BACKGROUND:BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains ...