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Full-Text Articles in Medicine and Health Sciences

The Molecular Biology And Treatment Of Malignant Melanoma With Brafv600 Mutations, Michael P. Mullane Feb 2014

The Molecular Biology And Treatment Of Malignant Melanoma With Brafv600 Mutations, Michael P. Mullane

Journal of Patient-Centered Research and Reviews

Since 2011, the treatment options for metastatic malignant melanoma have significantly changed. In that year, ipilimumab, an anti-CTLA4 monoclonal antibody, and vemurafenib, a potent inhibitor of mutated-BRAF (V600E and V600K), were approved by the U.S. Food and Drug Administration (FDA). In 2013, dabrafenib, another inhibitor of mutated-BRAF, and trametinib, a MEK inhibitor, were approved by the FDA. Most recently, combination therapy with dabrafenib and trametinib was approved. This article will describe a patient with metastatic malignant melanoma with BRAFV600E who has responded very well to vemurafenib monotherapy. We will then explore the molecular basis, pharmacologic development and clinical outcomes …


A Study Of 17 Short Tandem Repeat Loci Mutation In Thai Population, K Vongpaisarnsin, N Tansrisawad, U Hoonwijit, T. Jongsakul Jan 2014

A Study Of 17 Short Tandem Repeat Loci Mutation In Thai Population, K Vongpaisarnsin, N Tansrisawad, U Hoonwijit, T. Jongsakul

Chulalongkorn Medical Journal

Background : In paternity testing, differences at genetic loci between the alleged parent and the child would lead to the exclusion of biological paternity. Although rare, transmission inconsistent in paternity testing or single mismatches in DNA profiles may occur, possibly due to either germline or somatic mutation. When single locus discrepancy is present, the mutant allele is hypothesized that mutation occurs possibly in either father or mother. Objective : The objective of this paper is to report the mutation events related to many short tandem repeat (STR) loci that are frequently used and applied in various scenarios of forensic statistics. …


The Place Of Androgen Receptor Gene Mutation Analysis In The Molecular Diagnosis Of Prostate Cancer And Genotype–Phenotype Relationship, Fuat Kizilay, Mustafa Serdar Kalemci̇, Adnan Şi̇mşi̇r, Burak Turna, Oktay Nazli, Afi̇g Berdeli̇ Jan 2014

The Place Of Androgen Receptor Gene Mutation Analysis In The Molecular Diagnosis Of Prostate Cancer And Genotype–Phenotype Relationship, Fuat Kizilay, Mustafa Serdar Kalemci̇, Adnan Şi̇mşi̇r, Burak Turna, Oktay Nazli, Afi̇g Berdeli̇

Turkish Journal of Medical Sciences

To determine the relationship between androgen receptor (AR) gene polymorphism and prostate cancer in our society. Materials and methods: Thirty-nine patients diagnosed with prostate cancer and 34 benign prostatic hyperplasia (BPH) patients who were diagnosed in 2010 met the study criteria. The inclusion criteria included patients whose diagnosis was confirmed with a biopsy, with the presence of adequate pathologic material for review, between the ages of 40 and 80, and who were healthy men without a family history of prostate cancer. The exclusion criteria excluded men diagnosed with another cancer and those who had kin with a history of prostate …