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Rodrigo A Toledo, Yuejuan Qin, Subramanya Srikantan, Nicole Paes Morales, Qun Li, Yilun Deng, Sang-Woo Kim, Maria Adelaide A Pereira, Sergio P A Toledo, Xiaoping Su, Ricardo C T Aguiar, and Patricia L M Dahia

Introduction Pheochromocytomas and paragangliomas are sympathetic neural-derived neoplasms. Over one third of these tumors carry germline mutations in one of the ten distinct genes ( Jafri & Maher 2012 ). Remarkably, somatic events in

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Hatem A Azim Jr, Sylvain Brohée, Fedro A Peccatori, Christine Desmedt, Sherene Loi, Diether Lambrechts, Patrizia Dell'Orto, Samira Majjaj, Vinu Jose, Nicole Rotmensz, Michail Ignatiadis, Giancarlo Pruneri, Martine Piccart, Giuseppe Viale, and Christos Sotiriou

mutations and gene expression profiles. Materials and methods We identified 65 patients who were diagnosed with breast cancer during pregnancy in the period from 1996 to 2010 at the European Institute of Oncology (IEO) in Milan, Italy. For each case, we

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M Xing

alterations, some of which are seen only in this cancer. The classical oncogenic genetic alterations commonly seen in thyroid cancer include Ras mutations ( Fagin 2002 , Bongarzone & Pierotti 2003 ), RET/PTC rearrangements ( Nikiforov 2002 , Santoro et

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Rengyun Liu and Mingzhao Xing

landmark finding of mutations in the promoter of the TERT gene in melanoma early in 2013 through whole-genome sequencing ( Horn et al . 2013 , Huang et al . 2013 ), which were quickly found also in other human cancers, such as bladder cancer and

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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

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Xiaoli Liu, Justin Bishop, Yuan Shan, Sara Pai, Dingxie Liu, Avaniyapuram Kannan Murugan, Hui Sun, Adel K El-Naggar, and Mingzhao Xing

telomerase reverse transcriptase (TERT). Promoter mutations in the TERT gene on chromosome 5 have recently been reported in melanomas ( Horn et al . 2013 , Huang et al . 2013 ). Two TERT promoter mutations, 1 295 228 C>T and 1 295 250 C>T (termed C228T

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E Kim, E M Rath, V H M Tsang, A P Duff, B G Robinson, W B Church, D E Benn, T Dwight, and R J Clifton-Bligh

context of inherited neoplasia syndromes in more than 30% of cases and are linked to germline mutations in succinate dehydrogenase subunit A ( SDHA ), SDHB , SDHC , SDHD , SDHAF2 , VHL , RET , NF1 , TMEM127 , MAX , KIF1B , EPAS1 ( Lorenzo et

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Sock Hoai Chan and Joanne Ngeow

Introduction Genomic instability is a hallmark of human cancers ( Negrini et al. 2010 ). It refers to the increased frequency of accruing genetic alterations, ranging from single nucleotide mutations to whole chromosome changes such as

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Valtter B Virtanen, Eero Pukkala, Reetta Kivisaari, Perttu P Salo, Antti Koivusalo, Johanna Arola, Päivi J Miettinen, Risto J Rintala, Markus Perola, and Mikko P Pakarinen

proto-oncogene is the major gene associated with HD and MEN2 syndromes ( Donis-Keller et al . 1993 , Mulligan et al . 1993 , Carlson et al . 1994 , Hofstra et al . 1994 , Attié et al . 1995 ). RET mutations are found in up to 50% of the

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Arivarasan Karunamurthy, Federica Panebianco, Susan J Hsiao, Jennie Vorhauer, Marina N Nikiforova, Simion Chiosea, and Yuri E Nikiforov

carcinomas (PTC) reported mutations of the EIF1AX gene in these tumors ( Cancer Genome Atlas Research 2014c ). The EIF1AX gene located on chromosome X and codes for an eukaryotic translation initiation factor 1A (eIF1A). The protein promotes 43S complex