Browsing Molecular Pathology by issue date

Now showing items 1-20 of 268

    • Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 

      Michailidou, K; Hall, P; Gonzalez-Neira, A; Ghoussaini, M; Dennis, J; Milne, RL; Schmidt, MK; Chang-Claude, J; Bojesen, SE; Bolla, MK; Wang, Q; Dicks, E; Lee, A; Turnbull, C; Rahman, N; Fletcher, O; Peto, J; Gibson, L; Dos Santos Silva, I; Nevanlinna, H; Muranen, TA; Aittomäki, K; Blomqvist, C; Czene, K; Irwanto, A; Liu, J; Waisfisz, Q; Meijers-Heijboer, H; Adank, M; van der Luijt, RB; Hein, R; Dahmen, N; Beckman, L; Meindl, A; Schmutzler, RK; Müller-Myhsok, B; Lichtner, P; Hopper, JL; Southey, MC; Makalic, E; Schmidt, DF; Uitterlinden, AG; Hofman, A; Hunter, DJ; Chanock, SJ; Vincent, D; Bacot, F; Tessier, DC; Canisius, S; Wessels, LF; Haiman, CA; Shah, M; Luben, R; Brown, J; Luccarini, C; Schoof, N; Humphreys, K; Li, J; Nordestgaard, BG; Nielsen, SF; Flyger, H; Couch, FJ; Wang, X; Vachon, C; Stevens, KN; Lambrechts, D; Moisse, M; Paridaens, R; Christiaens, MR; Rudolph, A; Nickels, S; Flesch-Janys, D; Johnson, N; Aitken, Z; Aaltonen, K; Heikkinen, T; Broeks, A; Veer, LJ; van der Schoot, CE; Guénel, P; Truong, T; Laurent-Puig, P; Menegaux, F; Marme, F; Schneeweiss, A; Sohn, C; Burwinkel, B; Zamora, MP; Perez, JI; Pita, G; Alonso, MR; Cox, A; Brock, IW; Cross, SS; Reed, MW; Sawyer, EJ; Tomlinson, I; Kerin, MJ; Miller, N; Henderson, BE; Schumacher, F; Le Marchand, L; Andrulis, IL; Knight, JA; Glendon, G; Mulligan, AM; Lindblom, A; Margolin, S; Hooning, MJ; Hollestelle, A; van den Ouweland, AM; Jager, A; Bui, QM; Stone, J; Dite, GS; Apicella, C; Tsimiklis, H; Giles, GG; Severi, G; Baglietto, L; Fasching, PA; Haeberle, L; Ekici, AB; Beckmann, MW; Brenner, H; Müller, H; Arndt, V; Stegmaier, C; Swerdlow, A; Ashworth, A; Orr, N; Jones, M; Figueroa, J; Lissowska, J; Brinton, L; Goldberg, MS; Labrèche, F; Dumont, M; Winqvist, R; Pylkäs, K; Jukkola-Vuorinen, A; Grip, M; Brauch, H; Hamann, U; Brüning, T; Radice, P; Peterlongo, P; Manoukian, S; Bonanni, B; Devilee, P; Tollenaar, RA; Seynaeve, C; van Asperen, CJ; Jakubowska, A; Lubinski, J; Jaworska, K; Durda, K; Mannermaa, A; Kataja, V; Kosma, VM; Hartikainen, JM; Bogdanova, NV; Antonenkova, NN; Dörk, T; Kristensen, VN; Anton-Culver, H; Slager, S; Toland, AE; Edge, S; Fostira, F; Kang, D; Yoo, KY; Noh, DY; Matsuo, K; Ito, H; Iwata, H; Sueta, A; Wu, AH; Tseng, CC; Van Den Berg, D; Stram, DO; Shu, XO; Lu, W; Gao, YT; Cai, H; Teo, SH; Yip, CH; Phuah, SY; Cornes, BK; Hartman, M; Miao, H; Lim, WY; Sng, JH; Muir, K; Lophatananon, A; Stewart-Brown, S; Siriwanarangsan, P; Shen, CY; Hsiung, CN; Wu, PE; Ding, SL; Sangrajrang, S; Gaborieau, V; Brennan, P; McKay, J; Blot, WJ; Signorello, LB; Cai, Q; Zheng, W; Deming-Halverson, S; Shrubsole, M; Long, J; Simard, J; Garcia-Closas, M; Pharoah, PD; Chenevix-Trench, G; Dunning, AM; Benitez, J; Easton, DF (2013-04)
      Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We ...

    • Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study. 

      Johnson, N; Dudbridge, F; Orr, N; Gibson, L; Jones, ME; Schoemaker, MJ; Folkerd, EJ; Haynes, BP; Hopper, JL; Southey, MC; Dite, GS; Apicella, C; Schmidt, MK; Broeks, A; Van't Veer, LJ; Atsma, F; Muir, K; Lophatananon, A; Fasching, PA; Beckmann, MW; Ekici, AB; Renner, SP; Sawyer, E; Tomlinson, I; Kerin, M; Miller, N; Burwinkel, B; Marme, F; Schneeweiss, A; Sohn, C; Guénel, P; Truong, T; Cordina, E; Menegaux, F; Bojesen, SE; Nordestgaard, BG; Flyger, H; Milne, R; Zamora, MP; Arias Perez, JI; Benitez, J; Bernstein, L; Anton-Culver, H; Ziogas, A; Clarke Dur, C; Brenner, H; Müller, H; Arndt, V; Dieffenbach, AK; Meindl, A; Heil, J; Bartram, CR; Schmutzler, RK; Brauch, H; Justenhoven, C; Ko, YD; Nevanlinna, H; Muranen, TA; Aittomäki, K; Blomqvist, C; Matsuo, K; Dörk, T; Bogdanova, NV; Antonenkova, NN; Lindblom, A; Mannermaa, A; Kataja, V; Kosma, VM; Hartikainen, JM; Chenevix-Trench, G; Beesley, J; Wu, AH; Van den Berg, D; Tseng, CC; Lambrechts, D; Smeets, D; Neven, P; Wildiers, H; Chang-Claude, J; Rudolph, A; Nickels, S; Flesch-Janys, D; Radice, P; Peterlongo, P; Bonanni, B; Pensotti, V; Couch, FJ; Olson, JE; Wang, X; Fredericksen, Z; Pankratz, VS; Giles, GG; Severi, G; Baglietto, L; Haiman, C; Simard, J; Goldberg, MS; Labrèche, F; Dumont, M; Soucy, P; Teo, S; Yip, CH; Phuah, SY; Cornes, BK; Kristensen, VN; Grenaker Alnæs, G; Børresen-Dale, AL; Zheng, W; Winqvist, R; Pylkäs, K; Jukkola-Vuorinen, A; Grip, M; Andrulis, IL; Knight, JA; Glendon, G; Mulligan, AM; Devillee, P; Figueroa, J; Chanock, SJ; Lissowska, J; Sherman, ME; Hall, P; Schoof, N; Hooning, M; Hollestelle, A; Oldenburg, RA; Tilanus-Linthorst, M; Liu, J; Cox, A; Brock, IW; Reed, MW; Cross, SS; Blot, W; Signorello, LB; Pharoah, PD; Dunning, AM; Shah, M; Kang, D; Noh, DY; Park, SK; Choi, JY; Hartman, M; Miao, H; Lim, WY; Tang, A; Hamann, U; Försti, A; Rüdiger, T; Ulmer, HU; Jakubowska, A; Lubinski, J; Jaworska-Bieniek, K; Durda, K; Sangrajrang, S; Gaborieau, V; Brennan, P; McKay, J; Slager, S; Toland, AE; Vachon, C; Yannoukakos, D; Shen, CY; Yu, JC; Huang, CS; Hou, MF; González-Neira, A; Tessier, DC; Vincent, D; Bacot, F; Luccarini, C; Dennis, J; Michailidou, K; Bolla, MK; Wang, J; Easton, DF; García-Closas, M; Dowsett, M; Ashworth, A; Swerdlow, AJ; Peto, J; dos Santos Silva, I; Fletcher, O (2014-01)
      We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest ...

    • Characterization of the genomic features and expressed fusion genes in micropapillary carcinomas of the breast. 

      Natrajan, R; Wilkerson, PM; Marchiò, C; Piscuoglio, S; Ng, CK; Wai, P; Lambros, MB; Samartzis, EP; Dedes, KJ; Frankum, J; Bajrami, I; Kopec, A; Mackay, A; A'hern, R; Fenwick, K; Kozarewa, I; Hakas, J; Mitsopoulos, C; Hardisson, D; Lord, CJ; Kumar-Sinha, C; Ashworth, A; Weigelt, B; Sapino, A; Chinnaiyan, AM; Maher, CA; Reis-Filho, JS (2014-04)
      Micropapillary carcinoma (MPC) is a rare histological special type of breast cancer, characterized by an aggressive clinical behaviour and a pattern of copy number aberrations (CNAs) distinct from that of grade- and oestrogen ...

    • Whole-body diffusion-weighted MR imaging for assessment of treatment response in myeloma. 

      Giles, SL; Messiou, C; Collins, DJ; Morgan, VA; Simpkin, CJ; West, S; Davies, FE; Morgan, GJ; deSouza, NM (2014-06)
      To determine the feasibility of whole-body diffusion-weighted (DW) magnetic resonance (MR) imaging for assessment of treatment response in myeloma.This prospective single-institution study was HIPAA-compliant with local ...

    • Genome-wide characterization reveals complex interplay between TP53 and TP63 in response to genotoxic stress. 

      McDade, SS; Patel, D; Moran, M; Campbell, J; Fenwick, K; Kozarewa, I; Orr, NJ; Lord, CJ; Ashworth, AA; McCance, DJ (2014-06)
      In response to genotoxic stress the TP53 tumour suppressor activates target gene expression to induce cell cycle arrest or apoptosis depending on the extent of DNA damage. These canonical activities can be repressed by ...

    • DAISY: picking synthetic lethals from cancer genomes. 

      Ryan, CJ; Lord, CJ; Ashworth, A (2014-09)
      A better understanding of genetic interactions in cancer might help identify new therapeutic approaches that exploit the concept of synthetic lethality. Ruppin and colleagues have developed a new computational method, ...

    • Systematic evaluation of quantotypic peptides for targeted analysis of the human kinome. 

      Worboys, JD; Sinclair, J; Yuan, Y; Jørgensen, C (2014-10)
      In targeted proteomics it is critical that peptides are not only proteotypic but also accurately represent the level of the protein (quantotypic). Numerous approaches are used to identify proteotypic peptides, but quantotypic ...

    • The cylindromatosis gene product, CYLD, interacts with MIB2 to regulate notch signalling. 

      Rajan, N; Elliott, RJ; Smith, A; Sinclair, N; Swift, S; Lord, CJ; Ashworth, A (2014-12)
      CYLD, an ubiquitin hydrolase, has an expanding repertoire of regulatory roles in cell signalling and is dysregulated in a number of cancers. To dissect CYLD function we used a proteomics approach to identify CYLD interacting ...

    • Genome-wide homozygosity signature and risk of Hodgkin lymphoma. 

      Sud, A; Cooke, R; Swerdlow, AJ; Houlston, RS (2015-01)
      Recent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbred populations and can be associated with an increased risk of malignancy. To examine whether homozygosity is associated ...

    • JAMA Oncology 

      Dowsett, Mitch; Buus, Richard (2015-04-01)

    • 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 ...

    • Oncogenic KRAS sensitizes premalignant, but not malignant cells, to Noxa-dependent apoptosis through the activation of the MEK/ERK pathway. 

      Conti, A; Majorini, MT; Elliott, R; Ashworth, A; Lord, CJ; Cancelliere, C; Bardelli, A; Seneci, P; Walczak, H; Delia, D; Lecis, D (2015-05)
      KRAS is mutated in about 20-25% of all human cancers and especially in pancreatic, lung and colorectal tumors. Oncogenic KRAS stimulates several pro-survival pathways, but it also triggers the trans-activation of pro-apoptotic ...

    • TransHERA: The cell cycle regulator p27 predicts benefit from trastuzumab treatment in HER2-positive early breast cancer patients treated within the HERA trial 

      Filipits, M; Gnant, M; Dafni, U; Polydoropoulou, V; Hills, MJ; Leyland-Jones, B; Piccart-Gebhart, M; Dowsett, M (2015-05-01)

    • Candidate gene association studies and risk of Hodgkin lymphoma: a systematic review and meta-analysis. 

      Sud, A; Hemminki, K; Houlston, RS (2015-06-05)
      To evaluate the contribution of association studies of candidate polymorphisms to inherited predisposition to Hodgkin lymphoma (HL), we conducted a systematic review and meta-analysis of published case-control studies. Of ...

    • Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. 

      Garcia-Murillas, I; Schiavon, G; Weigelt, B; Ng, C; Hrebien, S; Cutts, RJ; Cheang, M; Osin, P; Nerurkar, A; Kozarewa, I; Garrido, JA; Dowsett, M; Reis-Filho, JS; Smith, IE; Turner, NC (2015-08)
      The identification of early-stage breast cancer patients at high risk of relapse would allow tailoring of adjuvant therapy approaches. We assessed whether analysis of circulating tumor DNA (ctDNA) in plasma can be used to ...

    • Decreased glutathione biosynthesis contributes to EGFR T790M-driven erlotinib resistance in non-small cell lung cancer. 

      Li, H; Stokes, W; Chater, E; Roy, R; de Bruin, E; Hu, Y; Liu, Z; Smit, EF; Heynen, GJ; Downward, J; Seckl, MJ; Wang, Y; Tang, H; Pardo, OE (2016)
      Epidermal growth factor receptor (EGFR) inhibitors such as erlotinib are novel effective agents in the treatment of EGFR-driven lung cancer, but their clinical impact is often impaired by acquired drug resistance through ...

    • CanVar: A resource for sharing germline variation in cancer patients. 

      Chubb, D; Broderick, P; Dobbins, SE; Houlston, RS (2016)
      The advent of high-throughput sequencing has accelerated our ability to discover genes predisposing to disease and is transforming clinical genomic sequencing. In both contexts knowledge of the spectrum and frequency of ...

    • Correction: CDK1 Is a Synthetic Lethal Target for KRAS Mutant Tumours. 

      Costa-Cabral, S; Brough, R; Konde, A; Aarts, M; Campbell, J; Marinari, E; Riffell, J; Bardelli, A; Torrance, C; Lord, CJ; Ashworth, A (2016-01)

    • Copy Number Profiling of Brazilian Astrocytomas. 

      Bidinotto, LT; Torrieri, R; Mackay, A; Almeida, GC; Viana-Pereira, M; Cruvinel-Carloni, A; Spina, ML; Campanella, NC; Pereira de Menezes, W; Clara, CA; Becker, AP; Jones, C; Reis, RM (2016-01)
      Copy number alterations (CNA) are one of the driving mechanisms of glioma tumorigenesis, and are currently used as important biomarkers in the routine setting. Therefore, we performed CNA profiling of 65 astrocytomas of ...

    • Heterogeneity in global gene expression profiles between biopsy specimens taken peri-surgically from primary ER-positive breast carcinomas. 

      López-Knowles, E; Gao, Q; Cheang, MC; Morden, J; Parker, J; Martin, LA; Pinhel, I; McNeill, F; Hills, M; Detre, S; Afentakis, M; Zabaglo, L; Dodson, A; Skene, A; Holcombe, C; Robertson, J; Smith, I; Bliss, JM; Dowsett, M (2016-01)
      Gene expression is widely used for the characterisation of breast cancers. Variability due to tissue heterogeneity or measurement error or systematic change due to peri-surgical procedures can affect measurements but is ...