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New study describes multi-method strategy to improve detection of PMS2 gene mutations in Lynch syndrome

New study describes multi-method strategy to improve detection of PMS2 gene mutations in Lynch syndrome

About 3% of colorectal cancers are due to Lynch syndrome, an inherited cancer susceptibility syndrome that predisposes individuals to various cancers. Close blood relatives of patients with Lynch syndrome have a 50% chance of inheritance. The role that PMS2 genetic mutations play in Lynch syndrome has been underestimated in part due to technological limitations. [More]
FDA, EMA accept filing applications for Boehringer Ingelheim's afatinib to treat patients with advanced SCC of the lung

FDA, EMA accept filing applications for Boehringer Ingelheim's afatinib to treat patients with advanced SCC of the lung

Boehringer Ingelheim today announced that both the U.S. Food and Drug Administration and the European Medicines Agency have accepted filing applications for afatinib for the treatment of patients with advanced squamous cell carcinoma (SCC) of the lung progressing after treatment with first-line chemotherapy. [More]
Johns Hopkins researchers discover role of TDP-43 protein in autopsy brain cells of patients with ALS

Johns Hopkins researchers discover role of TDP-43 protein in autopsy brain cells of patients with ALS

Autopsies of nearly every patient with the lethal neurodegenerative disorder amyotrophic lateral sclerosis (ALS), and many with frontotemporal dementia (FTD), show pathologists telltale clumps of a protein called TDP-43. Now, working with mouse and human cells, Johns Hopkins researchers report they have discovered the normal role of TDP-43 in cells and why its abnormal accumulation may cause disease. [More]
Rare BCR-ABL fusions highlighted in CML

Rare BCR-ABL fusions highlighted in CML

Chronic myeloid leukaemia patients with rare BCR-ABL fusions may be missed by quantitative polymerase chain reaction, research suggests. [More]
OGT’s popular ESHG workshop free to view online

OGT’s popular ESHG workshop free to view online

Oxford Gene Technology (OGT), The Molecular Genetics Company, has made its European Human Genetics (ESHG) Conference workshop freely available to view online. [More]
FDA accepts Blueprint Medicines' IND applications to start Phase 1 clinical trials for two drug candidates

FDA accepts Blueprint Medicines' IND applications to start Phase 1 clinical trials for two drug candidates

Blueprint Medicines today announced that the U.S. Food and Drug Administration accepted the Company's Investigational New Drug (IND) applications to begin Phase 1 clinical trials for its two lead drug candidates: BLU-554 for the treatment of advanced hepatocellular carcinoma (HCC) and cholangiocarcinoma, and BLU-285 for unresectable, treatment-resistant gastrointestinal stromal tumor (GIST). [More]
Phase 3 study shows Vectibix meets primary endpoint in patients with chemorefractory wild-type KRAS mCRC

Phase 3 study shows Vectibix meets primary endpoint in patients with chemorefractory wild-type KRAS mCRC

Amgen today announced that a Phase 3 study evaluating Vectibix (panitumumab) and best supportive care (BSC) met its primary endpoint, demonstrating a statistically significant improvement in overall survival (OS) in patients with chemorefractory wild-type KRAS (exon 2) metastatic colorectal cancer (mCRC) compared to those patients treated with BSC alone. [More]
NCCN ORP receives $2-million grant from Boehringer Ingelheim to facilitate studies of afatinib in NSCLC

NCCN ORP receives $2-million grant from Boehringer Ingelheim to facilitate studies of afatinib in NSCLC

The National Comprehensive Cancer Network Oncology Research Program (ORP) has been awarded a $2-million grant from Boehringer Ingelheim Pharmaceuticals, Inc. to develop a program to evaluate scientifically targeted combination approaches with afatinib in the treatment of non-small cell lung cancer (NSCLC). [More]
Boehringer announces LUX-Lung 8 data that compares efficacy of afatinib, erlotinib in patients with advanced SCC

Boehringer announces LUX-Lung 8 data that compares efficacy of afatinib, erlotinib in patients with advanced SCC

Boehringer Ingelheim today announced overall survival (OS) results from the LUX-Lung 8 trial (NCT01523587) that directly compared the efficacy and safety of two EGFR-directed treatments, afatinib and erlotinib, in patients with advanced squamous cell carcinoma (SCC) of the lung, progressing after treatment with first-line chemotherapy. Treatment with afatinib significantly reduced the risk of death by 19%, extending the survival of patients to a median of 7.9 months compared to 6.8 months on erlotinib. [More]
Clinical utility of Caris Molecular Intelligence in five studies to be presented at ASCO 2015

Clinical utility of Caris Molecular Intelligence in five studies to be presented at ASCO 2015

Caris Life Sciences, a leading biotechnology company focused on fulfilling the promise of precision medicine, today announced the presentation of data from five studies that demonstrate the clinical utility of Caris Molecular Intelligence®, the company's panomic comprehensive tumor profiling service, in helping to identify targeted treatment options for patients with rare and/or aggressive tumors. [More]
Mirati Therapeutics presents preliminary results of MGCD265 tyrosine kinase inhibitor at ASCO 2015

Mirati Therapeutics presents preliminary results of MGCD265 tyrosine kinase inhibitor at ASCO 2015

Mirati Therapeutics, Inc. today presented data that demonstrated preliminary evidence of clinical activity from its investigational targeted tyrosine kinase inhibitor candidate, MGCD265, as part of the developmental therapeutics category at the 2015 American Society of Clinical Oncology (ASCO) Annual Meeting being held in Chicago from May 29-June 2, 2015. [More]
Multiplatform biomarker analysis reveals new therapeutic options for squamous cell anal carcinomas

Multiplatform biomarker analysis reveals new therapeutic options for squamous cell anal carcinomas

While squamous cell anal carcinomas are rare, representing only about 2% of digestive-system cancer diagnoses, these cancers, which are associated with the human papillomavirus (HPV), sometimes prove very difficult to treat, recurring or developing metastases following standard treatment. [More]
Overview of Blueprint Medicines' kinase drug discovery strategy published in JCI

Overview of Blueprint Medicines' kinase drug discovery strategy published in JCI

Blueprint Medicines today announced that the Journal of Clinical Investigation published an overview of the Company's kinase drug discovery and development strategy. The publication underscores Blueprint Medicines' focus on identifying novel genomically defined disease drivers and the use of novel chemistry from its proprietary compound library to craft highly selective kinase inhibitors for new and difficult-to-drug kinase targets. [More]
University of Washington receives PPMD grant to continue analysis of spectrin-like repeats in dystrophin

University of Washington receives PPMD grant to continue analysis of spectrin-like repeats in dystrophin

Parent Project Muscular Dystrophy, a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne) awarded University of Washington a $148,000 grant to continue the functional analysis of spectrin-like repeats in dystrophin. [More]
Amgen's Vectibix (panitumumab) receives EC approval for treatment patients with WT RAS mCRC

Amgen's Vectibix (panitumumab) receives EC approval for treatment patients with WT RAS mCRC

Amgen today announced that the European Commission approved a new use of Vectibix (panitumumab) as first-line treatment in combination with FOLFIRI for the treatment of adult patients with wild-type (WT) RAS metastatic colorectal cancer (mCRC). [More]
Duke researchers demonstrate genetic therapeutic technique to treat DMD patients

Duke researchers demonstrate genetic therapeutic technique to treat DMD patients

Duke researchers have demonstrated a genetic therapeutic technique that has the potential to treat more than half of the patients suffering from Duchenne Muscular Dystrophy (DMD). [More]
Rare and classic EGFR mutations have different impacts on NSCLC outcome

Rare and classic EGFR mutations have different impacts on NSCLC outcome

Certain rare epidermal growth factor receptor (EGFR) mutations are associated with tobacco smoking, worse prognosis and poor response to EGFR tyrosine kinase inhibitor (TKI) therapy compared to the more common "classical" EGFR mutations. [More]

EGFR–TKI response worse in NSCLC patients with rare EGFR mutations

In patients with non-small-cell lung cancer, rare epidermal growth factor receptor mutations are associated with a poorer response to EGFR–tyrosine kinase inhibitors compared with frequently occurring ones, according to a study published in Lung Cancer. [More]
Plasma EGFR mutation cfDNA predicts advanced lung cancer outcome

Plasma EGFR mutation cfDNA predicts advanced lung cancer outcome

Monitoring plasma cell-free DNA levels of epidermal growth factor receptor mutations may indicate prognosis for patients with lung adenocarcinoma after EGFR–tyrosine kinase inhibitor therapy, research suggests. [More]
Georgia Tech researchers unveil new version of genome annotation system

Georgia Tech researchers unveil new version of genome annotation system

Georgia Tech researchers, working with colleagues in the National Center for Biotechnology Information, have released a new version of a genome annotation system capable of analyzing more than 2,000 prokaryotic genomes per day, helping researchers accelerate prokaryotic genomics-based studies worldwide. [More]
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