Category Archives: Medicine Genomics

A New genetically approach could slow melanoma progress

Two new paper report in nature and The New England Journal of Medicine. This would be a good new for cancer patients. see the paper:

Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma

Nature Volume:467 ,Pages:596–599

B-RAF is the most frequently mutated protein kinase in human cancers1. The finding that oncogenic mutations in BRAF are common in melanoma2, followed by the demonstration that these tumours are dependent on the RAF/MEK/ERK pathway3, offered hope that inhibition of B-RAF kinase activity could benefit melanoma patients. Herein, we describe the structure-guided discovery of PLX4032 (RG7204), a potent inhibitor of oncogenic B-RAF kinase activity. Preclinical experiments demonstrated that PLX4032 selectively blocked the RAF/MEK/ERK pathway in BRAF mutant cells and caused regression of BRAF mutant xenografts4. Toxicology studies confirmed a wide safety margin consistent with the high degree of selectivity, enabling Phase 1 clinical trials using a crystalline formulation of PLX4032 (ref. 5). In a subset of melanoma patients, pathway inhibition was monitored in paired biopsy specimens collected before treatment initiation and following two weeks of treatment. This analysis revealed substantial inhibition of ERK phosphorylation, yet clinical evaluation did not show tumour regressions. At higher drug exposures afforded by a new amorphous drug formulation4, 5, greater than 80% inhibition of ERK phosphorylation in the tumours of patients correlated with clinical response. Indeed, the Phase 1 clinical data revealed a remarkably high 81% response rate in metastatic melanoma patients treated at an oral dose of 960 mg twice daily5. These data demonstrate that BRAF-mutant melanomas are highly dependent on B-RAF kinase activity.

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US clinics embrace genome sequencing

A very good news that the US physicians are turning to genomic tools to diagnose puzzling conditions. This must be a big chance for post-genomics research.

here is the news:

US clinics quietly embrace whole-genome sequencing

—Physicians are turning to genomic tools to diagnose puzzling conditions.

Author: Brendan Borrell

DNA lab workWhole-genome sequencing of patients’ DNA is already helping physicians make treatment decisions.JAMES KING-HOLMES / SCIENCE PHOTO LIBRARY

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