Home / Resources / Publication Library

Search Results for: Mutation Profiling

Search All publications

How recent?

BRAF mutation status is an independent prognostic factor for resected stage IIIB and IIIC melanoma
Characterization of the genomic features and expressed fusion genes in micropapillary carcinomas of the breast
Cisplatin-induced epigenetic activation of miR-34a sensitizes bladder cancer cells to chemotherapy
PURPOSE: A previous study noted frequent B-RAF mutations among European patients with cisplatin-resistant but not cisplatin-sensitive germ cell tumors (GCT). We sought to validate this finding by assessing for these mutations among GCT patients at our center. Patients and Methods: Adolescent and adult patients with GCT who received cisplatin-based chemotherapy and had tumor tissue available were eligible for participation. Response to cisplatin was reviewed to determine sensitivity and resistance. Tumor DNA was extracted and subjected to Sequenom analysis to detect hotspot alterations in FGFR3, AKT1, PIK3CA, KRAS, HRAS, NRAS, and BRAF with Sanger Sequencing for confirmation. Nine GCT cell lines with varying degrees of cisplatin sensitivity and resistance were also assayed by Sequenom. RESULTS: Seventy (24 cisplatin-sensitive; 46 cisplatin-resistant) of 75 patients had tumors with sufficient quality DNA to perform Sequenom. Nineteen mutations were detected among 16 (23%) patients but no BRAF mutations were identified. Similarly, none of the cell lines harbored BRAF mutations. FGFR3 was the most frequent mutation, identified in 13% of both sensitive and resistant samples. All other mutations were exclusive to resistant cases (3 KRAS, 3 AKT1, 3 PIK3CA, 1 HRAS). CONCLUSIONS: BRAF mutations are rare in American GCT patients, including those with cisplatin-resistance. However, other potentially targetable mutations occur in over 25% of cisplatin-resistant patients. FGFR3, AKT1 and PIK3CA mutations are all reported for the first time in GCT. Whereas FGFR3 mutations occurred with equal frequency in both sensitive and resistant GCT, mutations in AKT1 and PIK3CA were observed exclusively in cisplatin-resistant tumors.
Activation of the PI3K/mTOR/AKT Pathway and Survival in Solid Tumors: Systematic Review and Meta-Analysis
ALK Rearrangement in a Large Series of Consecutive Non-Small Cell Lung Cancers: Comparison Between a New Immunohistochemical Approach and Fluorescent In Situ Hybridization for the Screening of Patients Eligible for Crizotinib Treatment
Analysis and Comparison of Somatic Mutations in Paired Primary and Recurrent Epithelial Ovarian Cancer Samples
A preclinical evaluation of the PI3K alpha/delta dominant inhibitor BAY 80-6946 in HER2-positive breast cancer models with acquired resistance to the HER2-targeted therapies trastuzumab and lapatinib.
A functional proteogenomic analysis of endometrioid and clear cell carcinomas using reverse phase protein array and mutation analysis: protein expression is histotype-specific and loss of ARID1A/BAF250a is associated with AKT phosphorylation
AKT Inhibitors Promote Cell Death in Cervical Cancer through Disruption of mTOR Signaling and Glucose Uptake