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Justin Lee, Jennifer Axilbund, W. Brian Dalton, Daniel Laheru, Stanley Watkins, David Chu, Karen Cravero, Berry Button, Kelly Kyker-Snowman, Ian Waters, Christopher D. Gocke, Josh Lauring and Ben Ho Park

Background The advent of next-generation sequencing (NGS) has revolutionized the identification of genetic alterations involved with cancer initiation and drug resistance. In oncology, 2 classes of mutation testing are available for patients

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Heather H. Cheng, Alexandra O. Sokolova, Edward M. Schaeffer, Eric J. Small and Celestia S. Higano

every cell of the body, and specific genetic changes have a 50/50 chance of being passed on to biologic children. Germline genetic testing can identify presence of inherited pathogenic variants (also called mutations ) in genes associated with cancer

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Rafael Bejar and Peter L. Greenberg

mutations contribute to the development and clinical outcomes of MDS, including their propensity to progress to more aggressive stages, such as acute myeloid leukemia (AML). Despite these findings, ambiguity remains about how best to use somatic mutations to

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Philip E. Lammers, Christine M. Lovly and Leora Horn

multiple potentially targetable driver mutations Explain the role of multiplexed gene sequencing platforms and next-generation sequencing testing in tailoring effective treatments to individual patients Discuss examples showing that it is difficult to

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Rachel L. Mitchell, Cory Kosche, Kelly Burgess, Shreya Wadhwa, Lela Buckingham, Ritu Ghai, Jacob Rotmensch, Oleksandra Klapko and Lydia Usha

years of age. The estimated carrier rate frequency is between 1:5,000 and 1:20,000 in the general population. LFS is caused by alterations in the tumor suppressor gene TP53 , with >300 different germline mutations identified thus far. 1 Some patients

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Susan O'Brien, Ellin Berman, Joseph O. Moore, Javier Pinilla-Ibarz, Jerald P. Radich, Paul J. Shami, B. Douglas Smith, David S. Snyder, Hema M. Sundar, Moshe Talpaz and Meir Wetzler

diagnosed CML. Dasatinib Dasatinib is a potent, orally available ABL kinase inhibitor. It binds to both the active and inactive conformation of the ABL kinase domain and has in vitro activity against nearly all imatinib-resistant BCR-ABL mutations except

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James Perkins, Patrick Boland, Steven J. Cohen, Anthony J. Olszanski, Yan Zhou, Paul Engstrom and Igor Astsaturov

for NET Describe the rationale for the use of imatinib in the treatment of patients with NET with activating KIT mutations Evaluate the data supporting the hypothesis that NET and GIST arise from a common precursor Neuroendocrine tumors (NET

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Dwight H. Owen, Bhavana Konda, Jennifer Sipos, Tom Liu, Amy Webb, Matthew D. Ringel, Cynthia D. Timmers and Manisha H. Shah

the RAS/RAF/MEK/ERK pathway, a key oncogenic signaling cascade for many human malignancies. 3 Activating BRAF mutations are the most common cause for this activation in PTC, occurring in 25% to 49% of tumors. Moreover, the presence of this mutation

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Juan Francisco Rodríguez-Moreno, María Apellaniz-Ruiz, Juan María Roldan-Romero, Ignacio Durán, Luis Beltrán, Cristina Montero-Conde, Alberto Cascón, Mercedes Robledo, Jesus García-Donas and Cristina Rodríguez-Antona

responses to mTOR inhibitors have been described in few patients with mutations in TSC1, TSC2 , or MTOR . 7 – 9 However, a recent study in RCC showed that not all patients with mTOR-activating mutations responded to hh inhibitors, whereas some without

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Juliana E. Hidalgo-López, Rashmi Kanagal-Shamanna, L. Jeffrey Medeiros, Zeev Estrov, C. Cameron Yin, Srdan Verstovsek, Sergej Konoplev, Jeffrey L. Jorgensen, Mohammad M. Mohammad, Roberto N. Miranda, Chong Zhao, John Lee, Zhuang Zuo and Carlos E. Bueso-Ramos

Driver gene mutation status has been incorporated into the classification and prognostic assessment of patients with acute myeloid leukemia (AML) and, in some cases, these data are used for treatment decisions. 1 JAK2 is a nonreceptor tyrosine