Molecular Pathology

 

Recent submissions

  • Embryonic transcription factor SOX9 drives breast cancer endocrine resistance. 

    Jeselsohn, R; Cornwell, M; Pun, M; Buchwalter, G; Nguyen, M; Bango, C; Huang, Y; Kuang, Y; Paweletz, C; Fu, X; Nardone, A; De Angelis, C; Detre, S; Dodson, A; Mohammed, H; Carroll, JS; Bowden, M; Rao, P; Long, HW; Li, F; Dowsett, M; Schiff, R; Brown, M (2017-05-30)
    The estrogen receptor (ER) drives the growth of most luminal breast cancers and is the primary target of endocrine therapy. Although ER blockade with drugs such as tamoxifen is very effective, a major clinical limitation ...

  • Evaluation of the response of intracranial xenografts to VEGF signaling inhibition using multiparametric MRI 

    Boult, J; Box, G; Vinci, M; Perryman, L; Eccles, S; Jones, C; Robinson, S

  • Comparative Efficacy and Safety of Adjuvant Letrozole Versus Anastrozole in Postmenopausal Patients With Hormone Receptor-Positive, Node-Positive Early Breast Cancer: Final Results of the Randomized Phase III Femara Versus Anastrozole Clinical Evaluation (FACE) Trial. 

    Smith, I; Yardley, D; Burris, H; De Boer, R; Amadori, D; McIntyre, K; Ejlertsen, B; Gnant, M; Jonat, W; Pritchard, KI; Dowsett, M; Hart, L; Poggio, S; Comarella, L; Salomon, H; Wamil, B; O'Shaughnessy, J (2017-04-01)
    Purpose The Letrozole (Femara) Versus Anastrozole Clinical Evaluation (FACE) study compared the efficacy and safety of adjuvant letrozole versus anastrozole in postmenopausal patients with hormone receptor (HR) -positive ...

  • Ki67 Proliferation Index as a Tool for Chemotherapy Decisions During and After Neoadjuvant Aromatase Inhibitor Treatment of Breast Cancer: Results From the American College of Surgeons Oncology Group Z1031 Trial (Alliance). 

    Ellis, MJ; Suman, VJ; Hoog, J; Goncalves, R; Sanati, S; Creighton, CJ; DeSchryver, K; Crouch, E; Brink, A; Watson, M; Luo, J; Tao, Y; Barnes, M; Dowsett, M; Budd, GT; Winer, E; Silverman, P; Esserman, L; Carey, L; Ma, CX; Unzeitig, G; Pluard, T; Whitworth, P; Babiera, G; Guenther, JM; Dayao, Z; Ota, D; Leitch, M; Olson, JA; Allred, DC; Hunt, K (2017-04-01)
    Purpose To determine the pathologic complete response (pCR) rate in estrogen receptor (ER) -positive primary breast cancer triaged to chemotherapy when the protein encoded by the MKI67 gene (Ki67) level was > 10% after 2 ...

  • Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials. 

    Cuzick, J; Brentnall, AR; Segal, C; Byers, H; Reuter, C; Detre, S; Lopez-Knowles, E; Sestak, I; Howell, A; Powles, TJ; Newman, WG; Dowsett, M (2017-03)
    Purpose At least 94 common single nucleotide polymorphisms (SNPs) are associated with breast cancer. The extent to which an SNP panel can refine risk in women who receive preventive therapy has not been directly assessed ...

  • De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. 

    Jansen, S; Geuer, S; Pfundt, R; Brough, R; Ghongane, P; Herkert, JC; Marco, EJ; Willemsen, MH; Kleefstra, T; Hannibal, M; Shieh, JT; Lynch, SA; Flinter, F; FitzPatrick, DR; Gardham, A; Bernhard, B; Ragge, N; Newbury-Ecob, R; Bernier, R; Kvarnung, M; Magnusson, EA; Wessels, MW; van Slegtenhorst, MA; Monaghan, KG; de Vries, P; Veltman, JA; Deciphering Developmental Disorders Study; Lord, CJ; Vissers, LE; de Vries, BB (2017-04-06)
    Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically ...

  • Immunoassays for the quantification of ALK and phosphorylated ALK support the evaluation of on-target ALK inhibitors in neuroblastoma. 

    Tucker, ER; Tall, JR; Danielson, LS; Gowan, S; Jamin, Y; Robinson, SP; Banerji, U; Chesler, L (2017-04-22)
    Targeted inhibition of anaplastic lymphoma kinase (ALK) is a successful approach for the treatment of many ALK-aberrant malignancies; however, the presence of resistant mutations necessitates both the development of more ...

  • Circulating 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; Nava Rodrigues, D; 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 (2017-04-27)
    Biomarkers for a more precise patient care are needed in metastatic prostate cancer (mPC). We have reported a Phase II trial (TOPARP-A) of the poly(ADP)-ribose polymerase (PARP) inhibitor olaparib in mPC, demonstrating ...

  • Pediatric high-grade glioma: biologically and clinically in need of new thinking. 

    Jones, C; Karajannis, MA; Jones, DTW; Kieran, MW; Monje, M; Baker, SJ; Becher, OJ; Cho, YJ; Gupta, N; Hawkins, C; Hargrave, D; Haas-Kogan, DA; Jabado, N; Li, XN; Mueller, S; Nicolaides, T; Packer, RJ; Persson, AI; Phillips, JJ; Simonds, EF; Stafford, JM; Tang, Y; Pfister, SM; Weiss, WA (2017-02-01)
    High-grade gliomas in children are different from those that arise in adults. Recent collaborative molecular analyses of these rare cancers have revealed previously unappreciated connections among chromatin regulation, ...

  • Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 

    Dobbins, SE; Broderick, P; Chubb, D; Kinnersley, B; Sherborne, AL; Houlston, RS (2016-10)
    Although family history is a major risk factor for colorectal cancer (CRC) a genetic diagnosis cannot be obtained in over 50 % of familial cases when screened for known CRC cancer susceptibility genes. The genetics of ...

  • Preclinical transgenic and patient-derived xenograft models recapitulate the radiological features of human adamantinomatous craniopharyngioma. 

    Boult, JKR; Apps, JR; Hölsken, A; Hutchinson, JC; Carreno, G; Danielson, LS; Smith, LM; Bäuerle, T; Buslei, R; Buchfelder, M; Virasami, AK; Koers, A; Arthurs, OJ; Jacques, TS; Chesler, L; Martinez-Barbera, JP; Robinson, SP (2017-05-08)
    To assess the clinical relevance of transgenic and patient-derived xenograft models of adamantinomatous craniopharyngioma (ACP) using serial magnetic resonance imaging (MRI) and high resolution post-mortem microcomputed ...

  • Functional variants in DCAF4 associated with lung cancer risk in European populations. 

    Liu, H; Liu, Z; Wang, Y; Stinchcombe, TE; Owzar, K; Han, Y; Hung, RJ; Brhane, Y; McLaughlin, J; Brennan, P; Bickeböller, H; Rosenberger, A; Houlston, RS; Caporaso, N; Landi, MT; Brüske, I; Risch, A; Wu, X; Ye, Y; Christiani, DC; Amos, CI; Wei, Q; Transdisciplinary Research in Cancer of the Lung (TRICL) Research Team (2017-05-01)
    Cullin-RING ubiquitin ligases (CRLs) responsible for substrate specificity of ubiquitination play a key role in cell-cycle control and DNA damage response. In this study, we assessed associations between 16 599 SNPs in 115 ...

  • Overexpression of EZH2 in multiple myeloma is associated with poor prognosis and dysregulation of cell cycle control. 

    Pawlyn, C; Bright, MD; Buros, AF; Stein, CK; Walters, Z; Aronson, LI; Mirabella, F; Jones, JR; Kaiser, MF; Walker, BA; Jackson, GH; Clarke, PA; Bergsagel, PL; Workman, P; Chesi, M; Morgan, GJ; Davies, FE (2017-03-31)
    Myeloma is heterogeneous at the molecular level with subgroups of patients characterised by features of epigenetic dysregulation. Outcomes for myeloma patients have improved over the past few decades except for molecularly ...

  • Susceptibility loci of CNOT6 in the general mRNA degradation pathway and lung cancer risk-A re-analysis of eight GWASs. 

    Zhou, F; Wang, Y; Liu, H; Ready, N; Han, Y; Hung, RJ; Brhane, Y; McLaughlin, J; Brennan, P; Bickeböller, H; Rosenberger, A; Houlston, RS; Caporaso, N; Landi, MT; Brüske, I; Risch, A; Ye, Y; Wu, X; Christiani, DC; Goodman, G; Chen, C; Transdisciplinary Research in Cancer of the Lung (TRICL) Research Team; Amos, CI; Wei, Q (2017-04)
    PURPOSE: mRNA degradation is an important regulatory step for controlling gene expression and cell functions. Genetic abnormalities involved in mRNA degradation genes were found to be associated with cancer risks. Therefore, ...

  • Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer. 

    Rodriguez-Broadbent, H; Law, PJ; Sud, A; Palin, K; Tuupanen, S; Gylfe, A; Hänninen, UA; Cajuso, T; Tanskanen, T; Kondelin, J; Kaasinen, E; Sarin, AP; Ripatti, S; Eriksson, JG; Rissanen, H; Knekt, P; Pukkala, E; Jousilahti, P; Salomaa, V; Palotie, A; Renkonen-Sinisalo, L; Lepistö, A; Böhm, J; Mecklin, JP; Al-Tassan, NA; Palles, C; Martin, L; Barclay, E; Farrington, SM; Timofeeva, MN; Meyer, BF; Wakil, SM; Campbell, H; Smith, CG; Idziaszczyk, S; Maughan, TS; Kaplan, R; Kerr, R; Kerr, D; Passarelli, MN; Figueiredo, JC; Buchanan, DD; Win, AK; Hopper, JL; Jenkins, MA; Lindor, NM; Newcomb, PA; Gallinger, S; Conti, D; Schumacher, F; Casey, G; Aaltonen, LA; Cheadle, JP; Tomlinson, IP; Dunlop, MG; Houlston, RS (2017-06-15)
    While elevated blood cholesterol has been associated with an increased risk of colorectal cancer (CRC) in observational studies, causality is uncertain. Here we apply a Mendelian randomisation (MR) analysis to examine the ...

  • Identification of miRSNPs associated with the risk of multiple myeloma. 

    Macauda, A; Calvetti, D; Maccari, G; Hemminki, K; Försti, A; Goldschmidt, H; Weinhold, N; Houlston, R; Andersen, V; Vogel, U; Buda, G; Varkonyi, J; Sureda, A; Lopez, JM; Watek, M; Butrym, A; Sarasquete, ME; Dudziński, M; Jurczyszyn, A; Druzd-Sitek, A; Kruszewski, M; Subocz, E; Petrini, M; Iskierka-Jażdżewska, E; Raźny, M; Szombath, G; Marques, H; Zawirska, D; Chraniuk, D; Halka, J; Hove Jacobsen, SE; Mazur, G; Sanz, RG; Dumontet, C; Moreno, V; Stępień, A; Beider, K; Pelosini, M; Reis, RM; Krawczyk-Kulis, M; Rymko, M; Avet-Loiseau, H; Lesueur, F; Grząśko, N; Ostrovsky, O; Jamroziak, K; Vangsted, AJ; Jerez, A; Tomczak, W; Zaucha, JM; Kadar, K; Pérez, JS; Nagler, A; Landi, S; Gemignani, F; Canzian, F (2016-10-08)
    Multiple myeloma (MM) is a malignancy of plasma cells usually infiltrating the bone marrow, associated with the production of a monoclonal immunoglobulin (M protein) which can be detected in the blood and/or urine. Multiple ...

  • Adding Celecoxib With or Without Zoledronic Acid for Hormone-Naïve Prostate Cancer: Long-Term Survival Results From an Adaptive, Multiarm, Multistage, Platform, Randomized Controlled Trial. 

    Mason, MD; Clarke, NW; James, ND; Dearnaley, DP; Spears, MR; Ritchie, AWS; Attard, G; Cross, W; Jones, RJ; Parker, CC; Russell, JM; Thalmann, GN; Schiavone, F; Cassoly, E; Matheson, D; Millman, R; Rentsch, CA; Barber, J; Gilson, C; Ibrahim, A; Logue, J; Lydon, A; Nikapota, AD; O'Sullivan, JM; Porfiri, E; Protheroe, A; Srihari, NN; Tsang, D; Wagstaff, J; Wallace, J; Walmsley, C; Parmar, MKB; Sydes, MR; STAMPEDE Investigators (2017-05-10)
    Purpose Systemic Therapy for Advanced or Metastatic Prostate Cancer: Evaluation of Drug Efficacy is a randomized controlled trial using a multiarm, multistage, platform design. It recruits men with high-risk, locally ...

  • PARP inhibitors: Synthetic lethality in the clinic. 

    Lord, CJ; Ashworth, A (2017-03-17)
    PARP inhibitors (PARPi), a cancer therapy targeting poly(ADP-ribose) polymerase, are the first clinically approved drugs designed to exploit synthetic lethality, a genetic concept proposed nearly a century ago. Tumors ...

  • MicroRNA 193b-3p as a predictive biomarker of chronic kidney disease in patients undergoing radical nephrectomy for renal cell carcinoma. 

    Trevisani, F; Ghidini, M; Larcher, A; Lampis, A; Lote, H; Manunta, P; Alibrandi, MT; Zagato, L; Citterio, L; Dell'Antonio, G; Carenzi, C; Capasso, G; Rugge, M; Rigotti, P; Bertini, R; Cascione, L; Briganti, A; Salonia, A; Benigni, F; Braconi, C; Fassan, M; Hahne, JC; Montorsi, F; Valeri, N (2016-11-22)
    BACKGROUND: A significant proportion of patients undergoing radical nephrectomy (RN) for clear-cell renal cell carcinoma (RCC) develop chronic kidney disease (CKD) within a few years following surgery. Chronic kidney disease ...

  • PARP inhibitor combination therapy. 

    Dréan, A; Lord, CJ; Ashworth, A (2016-12)
    In 2014, olaparib (Lynparza) became the first PARP (Poly(ADP-ribose) polymerase) inhibitor to be approved for the treatment of cancer. When used as single agents, PARP inhibitors can selectively target tumour cells with ...

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