Search Results

You are looking at 101 - 110 of 308 items for :

  • "rearrangements" x
Clear All
Free access

Jennifer A Woyach and Manisha H Shah

/papillary thyroid carcinoma (PTC), RAS, and BRAF. Non-overlapping rearrangement of RET/PTC, and mutations of RAS, BRAF, and neurotrophic tyrosine kinase receptor 1 (NTRK1) have been found in ∼70% of PTC ( Xing 2005 ). With the juxtaposition of various genes to the

Free access

Eric Y Lian, Sarah M Maritan, Jessica G Cockburn, Katayoon Kasaian, Mathieu J F Crupi, David Hurlbut, Steven J M Jones, Sam M Wiseman and Lois M Mulligan

in sporadic forms of MTC ( Mulligan 2014 ). In contrast, in the follicular cell tumour papillary thyroid carcinoma (PTC), rearrangements of the RET gene result in a constitutively active RET kinase fusion protein (RET/PTC) localised in the cytosol

Free access

Hartmut P Neumann, William F Young Jr, Tobias Krauss, Jean-Pierre Bayley, Francesca Schiavi, Giuseppe Opocher, Carsten C Boedeker, Amit Tirosh, Frederic Castinetti, Juri Ruf, Dmitry Beltsevich, Martin Walz, Harald-Thomas Groeben, Ernst von Dobschuetz, Oliver Gimm, Nelson Wohllk, Marija Pfeifer, Delmar M Lourenço Jr, Mariola Peczkowska, Attila Patocs, Joanne Ngeow, Özer Makay, Nalini S Shah, Arthur Tischler, Helena Leijon, Gianmaria Pennelli, Karina Villar Gómez de las Heras, Thera P Links, Birke Bausch and Charis Eng

spectrum of mutations has been observed, including missense, nonsense, intra-exonic insertions and deletions, splice site and large deletions and rearrangements ( Zbar et al . 1996 ). Missense mutations are the most frequent cause of VHL-associated with

Free access

Angela Ogden, Padmashree C G Rida and Ritu Aneja

asynchronously with primary nuclear DNA ( Crasta et al . 2012 ), resulting in rapid accrual of complex, clustered chromosome rearrangements ( Holland & Cleveland 2012 , Zhang et al . 2013 , 2015 , Leibowitz et al . 2015 ). Chromoanasynthesis can occur

Free access

Huy Q Ta and Daniel Gioeli

progression through the modulation of AR transcriptional activity. TOP2B is required for AR-mediated transcription by facilitating transient DSBs. (B) The generation of gene rearrangements is mediated by DNA damage and AR transactivation. DHT induces the

Free access

Maria Grazia Vizioli, Patricia A Possik, Eva Tarantino, Katrin Meissl, Maria Grazia Borrello, Claudia Miranda, Maria Chiara Anania, Sonia Pagliardini, Ettore Seregni, Marco A Pierotti, Silvana Pilotti, Daniel S Peeper and Angela Greco

leading to the activation of the ERK1/2 signal pathway, including point mutations of the BRAF and RAS genes, and rearrangements of RET and NTRK1 tyrosine kinase receptors, producing RET/PTC and TRK oncogenes respectively ( Greco et al . 2009

Free access

Soazig Le Pennec, Tomasz Konopka, David Gacquer, Danai Fimereli, Maxime Tarabichi, Gil Tomás, Frédérique Savagner, Myriam Decaussin-Petrucci, Christophe Trésallet, Guy Andry, Denis Larsimont, Vincent Detours and Carine Maenhaut

mortality. Point mutations, genomic rearrangements, and chromosomal copy number alterations have been linked to thyroid carcinogenesis. Mutations in BRAF and RAS genes and RET/PTC and PAX8/PPAR γ rearrangements are often found in DTCs ( Xing et al

Open access

Charles E Massie, Inmaculada Spiteri, Helen Ross-Adams, Hayley Luxton, Jonathan Kay, Hayley C Whitaker, Mark J Dunning, Alastair D Lamb, Antonio Ramos-Montoya, Daniel S Brewer, Colin S Cooper, Rosalind Eeles, UK Prostate ICGC Group, Anne Y Warren, Simon Tavaré, David E Neal and Andy G Lynch

altered in prostate cancer development first by an epigenetic change and then by a genomic rearrangement. Materials and methods Sample cohorts In a series of four radical prostatectomy specimens, we systematically dissected the whole prostates, identified

Free access

E Saggiorato, R De Pompa, M Volante, S Cappia, F Arecco, A P Dei Tos, F Orlandi and M Papotti

rearrangements refines the fine needle aspiration diagnosis of thyroid cancer. Journal of Clinical Endocrinology and Metabolism 86 2187 –2190. Cheung CC , Ezzat S, Freeman JL, Rosen IB & Asa SL 2001b Immunohistochemical

Free access

Albert Beckers, Maya Beth Lodish, Giampaolo Trivellin, Liliya Rostomyan, Misu Lee, Fabio R Faucz, Bo Yuan, Catherine S Choong, Jean-Hubert Caberg, Elisa Verrua, Luciana Ansaneli Naves, Tim D Cheetham, Jacques Young, Philippe A Lysy, Patrick Petrossians, Andrew Cotterill, Nalini Samir Shah, Daniel Metzger, Emilie Castermans, Maria Rosaria Ambrosio, Chiara Villa, Natalia Strebkova, Nadia Mazerkina, Stéphan Gaillard, Gustavo Barcelos Barra, Luis Augusto Casulari, Sebastian J Neggers, Roberto Salvatori, Marie-Lise Jaffrain-Rea, Margaret Zacharin, Beatriz Lecumberri Santamaria, Sabina Zacharieva, Ee Mun Lim, Giovanna Mantovani, Maria Chaira Zatelli, Michael T Collins, Jean-François Bonneville, Martha Quezado, Prashant Chittiboina, Edward H Oldfield, Vincent Bours, Pengfei Liu, Wouter W de Herder, Natalia Pellegata, James R Lupski, Adrian F Daly and Constantine A Stratakis

-aCGH. Breakpoint analyses revealed that all non-familial cases were unique rearrangements, which are likely to be mediated by a fork stalling and template switching/microhomology-mediated break-induced replication (FoSTeS/MMBIR) mechanism ( Lee et al . 2007