نتایج جستجو برای: brafv600e

تعداد نتایج: 835  

2017
Wanjia Xing Xiaohong Liu Qingqing He Zongjing Zhang Zhaoshun Jiang

Resistance to thyroid hormone (RTH) is a rare autosomal hereditary disorder characterized by increased serum thyroid hormone (TH) levels with unsuppressed or increased thyrotropin concentration. It remains unknown whether the coexistence of RTH with papillary thyroid carcinoma (PTC) and Hashimoto thyroiditis (HT) is incidental or whether it possesses a genetic or pathophysiological association....

Journal: :Blood 2015
Sascha Dietrich Jennifer Hüllein Stanley Chun-Wei Lee Barbara Hutter David Gonzalez Sandrine Jayne Martin J S Dyer Małgorzata Oleś Monica Else Xiyang Liu Mikołaj Słabicki Bian Wu Xavier Troussard Jan Dürig Mindaugas Andrulis Claire Dearden Christof von Kalle Martin Granzow Anna Jauch Stefan Fröhling Wolfgang Huber Manja Meggendorfer Torsten Haferlach Anthony D Ho Daniela Richter Benedikt Brors Hanno Glimm Estella Matutes Omar Abdel Wahab Thorsten Zenz

Hairy cell leukemia (HCL) is marked by near 100% mutational frequency of BRAFV600E mutations. Recurrent cooperating genetic events that may contribute to HCL pathogenesis or affect the clinical course of HCL are currently not described. Therefore, we performed whole exome sequencing to explore the mutational landscape of purine analog refractory HCL. In addition to the disease-defining BRAFV600...

2014
Yi Lun Liu Fritz Lai James S. Wilmott Xu Guang Yan Xiao Ying Liu Qi Luan Su Tang Guo Chen Chen Jiang Hsin-Yi Tseng Richard A. Scolyer Lei Jin Xu Dong Zhang

Reduction in the expression of the anti-survival BH3-only proteins PUMA and Bim is associated with the pathogenesis of melanoma. However, we have found that the expression of the other BH3-only protein Noxa is commonly upregulated in melanoma cells, and that this is driven by oncogenic activation of MEK/ERK. Immunohistochemistry studies showed that Noxa was expressed at higher levels in melanom...

2017
Serap Yalcin Onder Onguru

OBJECTIVE : Signet ring cell carcinoma is a rare subtype of colorectal carcinoma (CRC) with an associated BRAFV600E mutation. We investigated frequencies of BRAF mutation in 28 CRCs containing variable signet ring cell component and their relation with clinicopathologic parameters. METHODS : According to the presence of signet ring cell component, tumors were categorized into groups as follow...

Journal: :Journal of Investigative Dermatology 2016

Journal: :Blood 2014
Don M Wojchowski

testing combination therapies. Another concern is the relatively high incidence of cutaneous malignancies in patients treated with BRAFV600E inhibitors along with other cutaneous adverse effects. The report of a patient on both BRAF and MEK inhibitors who developed a RAS-mutated pancreatic cancer deepens the need to study novel treatment approaches on carefully monitored clinical trials. There ...

Journal: :The Journal of clinical investigation 2017
Michael Olvedy Julie C Tisserand Flavie Luciani Bram Boeckx Jasper Wouters Sophie Lopez Florian Rambow Sara Aibar Bernard Thienpont Jasmine Barra Corinna Köhler Enrico Radaelli Sophie Tartare-Deckert Stein Aerts Patrice Dubreuil Joost J van den Oord Diether Lambrechts Paulo De Sepulveda Jean-Christophe Marine

Identification and functional validation of oncogenic drivers are essential steps toward advancing cancer precision medicine. Here, we have presented a comprehensive analysis of the somatic genomic landscape of the widely used BRAFV600E- and NRASQ61K-driven mouse models of melanoma. By integrating the data with publically available genomic, epigenomic, and transcriptomic information from human ...

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