نتایج جستجو برای: missense
تعداد نتایج: 12396 فیلتر نتایج به سال:
Abstract Introduction Hereditary diffuse gastric cancer is an autosomal inherited syndrome associated with the E-cadherin germline mutations. Different types of CDH1 germline mutations have been reported; the missense alterations are rarely identified when compared with truncating mutations. The identification of missense mutation represents a clinical burden, since its pathogenicity is still u...
Large-scale sequencing of cancer genomes has uncovered thousands of DNA alterations, but the functional relevance of the majority of these mutations to tumorigenesis is unknown. We have developed a computational method, called Cancer-specific High-throughput Annotation of Somatic Mutations (CHASM), to identify and prioritize those missense mutations most likely to generate functional changes th...
The human genetic disorder ataxia-telangiectasia (A-T) is characterized by hypersensitivity to ionizing radiation and an elevated risk of malignancy. Epidemiological data support an increased risk for breast and other cancers in A-T heterozygotes. However, screening breast cancer cases for truncating mutations in the ATM (A-T mutated) gene has failed largely to reveal an increased incidence in ...
Inherited missense mutations in the tumor suppressor gene, BRCA-1, may predispose to breast or ovarian cancer, but the exact effects on the protein are generally unknown. The COOH-terminal region of BRCA-1 encodes two BRCT repeats, which are partially conserved in mammalian species (human, dog, rat, and mouse; 60% amino acid identity). A bioinformatic analysis was conducted to evaluate 246 BRCT...
PURPOSE Although survival with a p53 missense mutation is highly variable, p53-null mutation is an independent adverse prognostic factor for advanced stage ovarian cancer. By evaluating ovarian cancer survival based upon a structure function analysis of the p53 protein, we tested the hypothesis that not all missense mutations are equivalent. EXPERIMENTAL DESIGN The p53 gene was sequenced from...
Many individually rare missense substitutions are encountered during deep resequencing of candidate susceptibility genes and clinical mutation screening of known susceptibility genes. BRCA1 and BRCA2 are among the most resequenced of all genes, and clinical mutation screening of these genes provides an extensive data set for analysis of rare missense substitutions. Align-GVGD is a mathematicall...
background: apolipoprotein a2 (apoa2) is the second major apolipoprotein of the high-density lipoprotein cholesterol (hdl-c). the study aim was to identify apoa2 gene variation in individuals within two extreme tails of hdl-c levels and its relationship with hdl-c level. methods: this cross-sectional survey was conducted on participants from tehran glucose and lipid study (tlgs) at research ins...
PURPOSE To evaluate the role of germline SDHA mutation analysis by (1) comprehensive literature review, (2) description of novel germline SDHA mutations and (3) in silico structural prediction analysis of missense substitutions in SDHA. PATIENTS AND METHODS A systematic literature review and a retrospective review of the molecular and clinical features of patients identified with putative ger...
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