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Tobias Åkerström, Holger Sven Willenberg, Kenko Cupisti, Julian Ip, Samuel Backman, Ana Moser, Rajani Maharjan, Bruce Robinson, K Alexander Iwen, Henning Dralle, Cristina D Volpe, Martin Bäckdahl, Johan Botling, Peter Stålberg, Gunnar Westin, Martin K Walz, Hendrik Lehnert, Stan Sidhu, Jan Zedenius, Peyman Björklund, and Per Hellman

( Spät & Hunyady 2004 ). Choi et al . (2011) identified mutations in the KCNJ5 gene in both sporadic APAs and in a family with bilateral adrenal hyperplasia. Mutations affecting the selectivity filter of GIRK4 (encoded by the KCNJ5 gene) resulted in

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Tae Hyuk Kim, Young-Eun Kim, Soomin Ahn, Ji-Youn Kim, Chang-Seok Ki, Young Lyun Oh, Kyunga Kim, Jae Won Yun, Woong-Yang Park, Jun-Ho Choe, Jung-Han Kim, Jee Soo Kim, Sun Wook Kim, and Jae Hoon Chung

sarcoma viral oncogene homolog B ( BRAF ) T1799A mutation has drawn much attention based on its high prevalence, occurring in about 45% of PTC and 25% of ATC cases and its association with PTC recurrence ( Kim et al. 2012 , Xing et al. 2015 ). However

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T Vandamme, M Beyens, G Boons, A Schepers, K Kamp, K Biermann, P Pauwels, W W De Herder, L J Hofland, M Peeters, G Van Camp, and K Op de Beeck

, while ATRX and DAXX play a role in alternative telomere lengthening and chromatin remodeling ( Elsasser et al . 2011 , Heaphy et al . 2011 ). Additionally, mutations in genes involved in the phosphoinositide-3-kinase/Akt/mammalian target of rapamycin

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Maya B Lodish, Karen T Adams, Thanh T Huynh, Tamara Prodanov, Alex Ling, Clara Chen, Suzanne Shusterman, Camilo Jimenez, Maria Merino, Marybeth Hughes, Kendall W Cradic, Dragana Milosevic, Ravinder J Singh, Constantine A Stratakis, and Karel Pacak

been reported in the literature, but their association with specific mutations and/or genetic syndromes has not been described ( Subramanian & Maker 2006 ). Germline mutations in the genes encoding subunits B, C, and D of succinate dehydrogenase (SDH

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Yong Lin, Xiaofei Jiang, Ye Shen, Min Li, Huili Ma, Mingzhao Xing, and Yuan Lu

3K is located on chromosome 3q26.3 and consists of 20 exons. Many mutations of the PIK3CA gene were found to increase enzymatic activity of PIK3CA, activate the AKT signaling, and allow growth factor-independent growth, invasion, and metastasis of

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Antonella Verrienti, Giovanni Tallini, Chiara Colato, Amélie Boichard, Saula Checquolo, Valeria Pecce, Marialuisa Sponziello, Francesca Rosignolo, Dario de Biase, Kerry Rhoden, Gian Piero Casadei, Diego Russo, Michela Visani, Giorgia Acquaviva, Marco Ferdeghini, Sebastiano Filetti, and Cosimo Durante

( Pusztaszeri et al . 2014 ). Ninety-nine percent of these familial cases are caused by germ-line mutations in the receptor tyrosine kinase (RTK) gene RET . RET mutations are less common in sporadic MTCs, roughly half of which harbor somatic alterations of

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Roger L Milne and Antonis C Antoniou

Introduction Pathogenic mutations in BRCA1 and BRCA2 are associated with high risks of breast and ovarian cancer. Based on conservative estimates ( Antoniou et al . 2008a ), approximately 1 in 240 individuals in the population carry one

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Dong-Yeop Shin, Soyeun Kim, Sunhoo Park, Jae Soo Koh, Cheol Hyeon Kim, HeeJong Baek, Sung Hyun Yang, and Im Il Na

. One of the first druggable targets, epidermal growth factor receptor ( EGFR ) mutations, is predominantly found in pulmonary adenocarcinomas ( Shigematsu et al . 2005 ). These mutations allow selection of patients who will benefit from these

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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

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Fei Li, Guangqi Chen, Chunjun Sheng, Aaron M Gusdon, Yueye Huang, Zhongwei Lv, Huixiong Xu, Mingzhao Xing, and Shen Qu

. 2008 ). Therefore, identification of markers capable of distinguishing these aggressive tumors, especially in the phase before surgery, would be very useful in guiding appropriate clinical management of PTMC. The BRAFV600E mutation, a point mutation at