نتایج جستجو برای: cdkn2a
تعداد نتایج: 2929 فیلتر نتایج به سال:
The CDKN2Agene maps to chromosome 9p21—22 and is responsible for melanoma susceptibility in some families. Its product, p16, binds specifi cally to CDK4 and CDK6 in vitro and in vivo, inhibiting their kinase activity. CDK.N2A is homozygously deleted or mutated in a large propor tion of tumor cell lines and some primary tumors, including melanomas. The aim of this study was to investigate the ...
BACKGROUND Genetic alterations on chromosome 9p, including inactivation of the tumour suppressor gene, CDKN2A, result in cellular proliferation and growth of tumours. Our aim was to use microsatellite analysis and fluorescence in situ hybridization (FISH) to characterise the architecture of this region. RESULTS Seventy-five out of 77 clear cell renal cell cancers (tumour/normal pairs) were in...
The multistage carcinogenesis of esophageal adenocarcinoma is a process of clonal evolution within Barrett's esophagus neoplasms. The initiating event for Barrett's esophagus is unknown, but is associated with chronic gastric reflux which probably also promotes progression. Inactivation of both alleles of CDKN2A appear to be early events causing clonal expansion. Clones with TP53 inactivated ex...
Case report and literature review on T-cell acute lymphoblastic leukemia with t(7;14)(p15;q11.2)/HOXA-TCRA/D and biallelic deletion of CDKN2A.
OBJECTIVE CDKN2A/p16 mutations confer 76% lifetime risk of melanoma and up to 17% lifetime risk of pancreatic cancer. Our objective was to determine the short- and long-term impact of CDKN2A/p16 genetic counseling and test reporting on psychological distress, cancer worry, and perceived costs and benefits of testing. METHODS Prospective changes in anxiety, depression, and cancer worry followi...
PURPOSE To uncover the genetic events leading to transformation of pediatric low-grade glioma (PLGG) to secondary high-grade glioma (sHGG). PATIENTS AND METHODS We retrospectively identified patients with sHGG from a population-based cohort of 886 patients with PLGG with long clinical follow-up. Exome sequencing and array CGH were performed on available samples followed by detailed genetic an...
BACKGROUND Malignant pleural mesothelioma (MPM) is a rare, predominantly asbestos-related and biologically highly aggressive tumour leading to a dismal prognosis. Multimodality therapy consisting of platinum-based chemotherapy is the treatment of choice. The reasons for the rather poor efficacy of platinum compounds remain largely unknown. MATERIAL AND METHODS For this exploratory mRNA study,...
An automated procedure to identify biomedical articles that contain cancer-associated gene variants.
The proliferation of biomedical literature makes it increasingly difficult for researchers to find and manage relevant information. However, identifying research articles containing mutation data, a requisite first step in integrating large and complex mutation data sets, is currently tedious, time-consuming and imprecise. More effective mechanisms for identifying articles containing mutation i...
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