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Chiara Villa, Maria Stefania Lagonigro, Flavia Magri, Maria Koziak, Marie-Lise Jaffrain-Rea, Raja Brauner, Jerome Bouligand, Marie Pierre Junier, Federico Di Rocco, Christian Sainte-Rose, Albert Beckers, François Xavier Roux, Adrian F Daly, and Luca Chiovato

, and the necessity for invasive surgery and/or chronic medical therapy. Multiple molecular genetic alterations related to pituitary adenomas have been identified, mainly as somatic mutations in sporadic tumors ( Asa & Ezzat 2009 ). Familial pituitary

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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

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Xiao-Hua Jiang, Jie-Li Lu, Bin Cui, Yong-Ju Zhao, Wei-qing Wang, Jian-Min Liu, Wen-Qiang Fang, Ya-Nan Cao, Yan Ge, Chang-xian Zhang, Huguette Casse, Xiao-Ying Li, and Guang Ning

homology to any other known proteins, is considered to play a role in cell growth regulation, cell cycle, genome stability and synapse plasticity ( Yang & Hua 2007 ). More than 400 germ line and somatic mutations in the MEN1 gene have been identified

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Rami Alrezk, Fady Hannah-Shmouni, and Constantine A Stratakis

. 2001 ). The genetic cause of MEN1 was initially localized to 11q13 through positional cloning ( Larsson et al . 1988 , Chandrasekharappa et al . 1997 ), and later identified as germline heterozygous loss-of-function mutations in the tumor suppressor

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Simon Linder, Henk G van der Poel, Andries M Bergman, Wilbert Zwart, and Stefan Prekovic

, including an altered microtubule composition affecting docetaxel binding (such as upregulation of certain isotypes Ranganathan et al. 1998 or mutations Yin et al. 2010 ), a reduced intracellular drug accumulation due to overexpression of drug efflux

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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

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Jan P Dumanski, Chiara Rasi, Peyman Björklund, Hanna Davies, Abir S Ali, Malin Grönberg, Staffan Welin, Halfdan Sorbye, Henning Grønbæk, Janet L Cunningham, Lars A Forsberg, Lars Lind, Erik Ingelsson, Peter Stålberg, Per Hellman, and Eva Tiensuu Janson

gene expression. Other frequent aberrations involve gain of chromosomes 4, 5, 14 and 20, as well as loss of 9, 11q and 16q ( Andersson et al . 2009 ). Frameshift and heterozygous mutations involving the CDKN1B gene, coding for the tumor suppressor p

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Dewi Astuti, Christopher J Ricketts, Rasheduzzaman Chowdhury, Michael A McDonough, Dean Gentle, Gail Kirby, Susanne Schlisio, Rajappa S Kenchappa, Bruce D Carter, William G Kaelin Jr, Peter J Ratcliffe, Christopher J Schofield, Farida Latif, and Eamonn R Maher

Introduction Germline mutations in the von Hippel–Lindau ( VHL ) tumour suppressor gene and in the B, C and D subunits of succinate dehydrogenase ( SDHB , SDHC and SDHD ) are strongly linked with susceptibility to phaeochromocytoma ( Latif et al

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Bora E Baysal and Eamonn R Maher

(tumors were only manifest after paternal transmission, Fig. 1 ) was reported ( van der Mey et al . 1989 ). Ten years later, Baysal et al . (2000) reported the seminal finding that familial HNPGL was associated with germline mutations in succinate

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Daniela Cordella, Marina Muzza, Luisella Alberti, Paolo Colombo, Pietro Travaglini, Paolo Beck-Peccoz, Laura Fugazzola, and Luca Persani

key tyrosine residues that recruit and activate SH2 (src homology 2)- and phosphotyrosine binding-containing protein activating different signalling pathways ( Alberti et al. 1998 , Hansford & Mulligan 2000 ). Mutations of the RET proto