Search Results

You are looking at 1 - 10 of 1,298 items for :

  • All content x
Clear All
Free access

Michael Solarski, Fabio Rotondo, William D Foulkes, John R Priest, Luis V Syro, Henriett Butz, Michael D Cusimano, and Kalman Kovacs

Introduction In the last few years, the DICER1 gene and its mutations generated interest and have been investigated by several researchers. Results have shown that heterozygous germline DICER1 mutations cause a familial DICER1 tumor

Free access

Jenny Welander, Adam Andreasson, Michael Brauckhoff, Martin Bäckdahl, Catharina Larsson, Oliver Gimm, and Peter Söderkvist

hereditary tumor syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel–Lindau disease (VHL), neurofibromatosis type 1 (NF1) or familial pheochromocytoma–paraganglioma syndrome, which are caused by mutations in the genes RET , VHL , NF1

Open access

Tiantian Liu, Taylor C Brown, C Christofer Juhlin, Adam Andreasson, Na Wang, Martin Bäckdahl, James M Healy, Manju L Prasad, Reju Korah, Tobias Carling, Dawei Xu, and Catharina Larsson

activated in carcinogenesis. Recently, TERT promoter mutations have been reported in human malignancies, which create de novo ETS1-binding motifs stimulating the TERT transcription. This genetic event is thus proposed as a novel mechanism activating

Open access

W Imruetaicharoenchoke, A Fletcher, W Lu, R J Watkins, B Modasia, V L Poole, H R Nieto, R J Thompson, K Boelaert, M L Read, V E Smith, and C J McCabe

Introduction Only a minority of mutations are likely to confer a specific growth advantage in vivo , resulting in clonal expansion and tumour development (driver mutations), whilst the majority of substitutions reported in sequencing

Free access

Marie Colombe Agahozo, Anieta M Sieuwerts, S Charlane Doebar, Esther I Verhoef, Corine M Beaufort, Kirsten Ruigrok-Ritstier, Vanja de Weerd, Hein F B M Sleddens, Winand N M Dinjens, John W M Martens, and Carolien H M van Deurzen

somatic mutation spectrum varies widely across these different subtypes ( Perou et al. 2000 ). One of the most frequently described mutations in IBC are present in phosphatidylinositol-4,5-biphospate-3-kinase, catalytic subunit alpha (PIK3CA) and occur

Free access

Huy Gia Vuong, Toru Odate, Hanh T T Ngo, Thong Quang Pham, Thao T K Tran, Kunio Mochizuki, Tadao Nakazawa, Ryohei Katoh, and Tetsuo Kondo

. 2006 ). The RET oncogene was first described in 1985 by Takahashi et al . (1985) . Since then, over 100 genetic alterations involving RET have been found in patients with sporadic and hereditary MTCs. RET mutation occurs in virtually all cases

Free access

Min-Hee Kim, Ja Seong Bae, Dong-Jun Lim, Hyoungnam Lee, So Ra Jeon, Gyeong Sin Park, and Chan Kwon Jung

Introduction The V600E BRAF mutation is the most common genetic alteration in papillary thyroid carcinoma (PTC). The prevalence of the BRAF V600E mutation varies according to the histological subtype; the mutation is frequent in the tall cell

Open access

Adam Stenman, Samuel Backman, Klara Johansson, Johan O Paulsson, Peter Stålberg, Jan Zedenius, and C Christofer Juhlin

thyroid nodules ( Francis et al. 2015 ). From a genetic standpoint, gene fusion events are significantly overrepresented in pediatric thyroid cancer as opposed to adult tumors, whereas the latter entity exhibits more frequent mutational events compared

Restricted access

Avaniyapuram Kannan Murugan, Abeer Al-Amr, Mysoon M Al-Ansari, Pulicat S Manogaran, Hindi Al-Hindi, and Ali S Alzahrani

/PTC rearrangements, mutations in BRAF , NRAS , etc., and the PI3K/AKT pathway is activated mostly in poorly differentiated (PDTC) and anaplastic thyroid cancer (ATC) as a result of mutations in ALK , RAS , PIK3CA , AKT , etc. ( Murugan & Xing 2011 , Xing 2013

Free access

Johan O Paulsson, Ninni Mu, Ivan Shabo, Na Wang, Jan Zedenius, Catharina Larsson, and C Christofer Juhlin

& Bacchetti 1997 , Daniel et al. 2012 ). One important underlying mechanism of telomerase activation constitutes of hot spot mutations (denoted C228T and C250T) in the TERT promoter, which has been shown to upregulate TERT mRNA expression by creating