Background and Objective: BRAF mutations were studied in various populations for prostate carcinoma (PC); however, mutations in BRAF gene are unusual compared to KRAS. Oncogenic activating of BRAF mutations were studied lately in almost 0%-10% of prostate cancer cases. Methods: In this retrospective study, we gathered 100 formalin-fixed ...

Abstract We screened the KCNJ11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. Six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. A novel mutation W68R (No Locus, GU170814; 2009) was identified in the kir6.2, the pore-forming subunit of the KATP ...

Germline nonautoimmune hyperthyroidism due to an activating mutation in the thyroid stimulating hormone receptor gene is an uncommon disease. To date 32 different mutations have been described. The severity of the hyperthyroid symptoms is variable and phenotype differences have been described in subjects harboring the same mutation. This paper describes a family with a mutation in codon 431 of ...

head and neck squamous cell carcinoma, including oral squamous cell carcinoma (oscc) is the sixth most common cancer in the human population. despite significant efforts committed in treatment of oscc the overall survival rate of oscc has not improved significantly. activating mutations in the fibroblast growth factor receptor 3 (fgfr3) genes are responsible for some human cancers, including bl...

Neonatal hyperthyroidism is a rare disorder and occurs in two forms. An autoimmune form is associated with maternal Graves' disease, resulting from transplacental passage of maternal thyroid-stimulating antibodies and a nonautoimmune form is caused by gain of function mutations in the thyrotropin receptor (TSHR) gene. Thyrotoxicosis caused by germline mutations in the TSHR gene may lead to a va...

Activating mutations in Epidermal growth factor receptor (EGFR) occur approximately 15% White, 40-50% of Asian and Black patients with lung adenocarcinoma. However, its prevalence the nearly 60 million U.S. Hispanics has not been well characterized. Herein we evaluate EGFR mutation frequency Hispanic adenocarcinoma at an academic institute serving a large multi-ethnic area.

Hairy-cell leukemia (HCL) is a CD20+ indolent B-cell cancer in which BRAF V600E kinase–activating mutation plays pathogenetic role. In clinical trials involving patients with refractory or relapsed HCL, the targeting of oral inhibitor vemurafenib led to response 91% patients; 35% had complete response. However, median relapse-free survival was only 9 months after treatment stopped.