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Clinical evaluation study of newly developed Luminex-based all RAS mutation assay kit

ABSTRACT: Primary outcome(s): Concordance rate of both KRAS and NRAS gene exon 2, 3 and 4 mutations between standard genetic testings including sanger sequencing and an established in vitro diagnostic (IVD) kit for KRAS exon2, and a newly developed Luminex-based all RAS assay kit

DISEASE(S): Colorectal Cancer

PROVIDER: 2627147 | ecrin-mdr-crc |

REPOSITORIES: ECRIN MDR

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Clinical evaluation study of newly developed microsatellite instability test kit

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Clinical validation study of RAKSET-B, a multiple detection kit for BRAF and RAS gene mutations in colorectal cancer

Project description:Primary outcome(s): BRAF gene mutation* - Overall concordance rate, positive concordance rate, and negative concordance rate of BRAF gene mutations between standard genetic testing such as sanger sequencing and RASKET-B kit RAS gene mutation** - Overall concordance rate, positive concordance rate, and negative concordance rate of RAS gene mutations between MEBGEN RASKET KIT (an established in vitro diagnostic (IVD) kit for detecting RAS mutations) and RASKET-B kit *BRAF gene mutation codon 600 (p.V600E) **RAS gene mutation codon 12, 13, 59, 61, 117, 146

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Multicenter Clinical Performance Study to evaluate Plasma-based RAS Gene Mutation Testing using OncoBEAM RAS CRC assay (LS52R) of Patients having Progressive or Recurrent Colorectal Cancer

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Somatic Activation of KIT in Distinct Subtypes of Melanoma

Project description:Melanomas on mucosal membranes, acral skin (soles, palms, and nail bed), and skin with chronic sun-induced damage have infrequent mutations in BRAF and NRAS, genes within the mitogenactivated protein (MAP) kinase pathway commonly mutated in melanomas on intermittently sun-exposed skin. This raises the question of whether other aberrations are occurring in the MAP kinase cascade in the melanoma types with infrequent mutations of BRAF and NRAS. Oncogenic mutations in KIT were found in three of seven tumors with amplifications. Examination of all 102 primary melanomas found mutations and/or copy number increases of KIT in 39% ofmucosal, 36% of acral, and 28% of melanomas on chronically sun-damaged skin, but not in any (0%) melanomas on skin without chronic sun damage. Seventy-nine percent of tumors with mutations and 53% of tumors with multiple copies of KIT demonstrated increased KIT protein levels. KIT is an important oncogene in melanoma. Because the majority of the KIT mutations we found in melanoma also occur in imatinib-responsive cancers of other types, imatinib may offer an immediate therapeutic benefit for a significant proportion of the global melanoma burden. Keywords: melanoma, oncogene, comparative genomic hybridization, KIT

2006-09-09 | GSE4747 | GEO

Oncogenic potential of RAS isoforms in melanocytes

Project description:We compared the transformation efficiencies of mutant NRAS and KRAS in immortal, non-transformed Ink4a/Arf-deficient melanocytes. NRAS mutation leads to increased cellular proliferation and is potently tumorigenic. In contrast, KRAS mutation does not enhance melanocyte proliferation and is only weakly tumorigenic on its own. While both NRAS and KRAS activate MAPK signaling, only NRAS enhances MYC activity in these cells. Our data suggests that the activity of specific RAS isoforms is context dependent and provides a possible explanation for the prevalence of NRAS mutations in melanoma.In addition, understanding this mechanism will have important implications for cancer therapies targeting RAS pathways. Keywords: RAS isoforms Common Reference

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Expression profiling of GIST: CD133 is associated with KIT exon 11 deletion, gastric location and poor prognosis

Project description:Background & Aims: In gastrointestinal stromal tumors (GIST) KIT exon 11 deletions are associated with poor prognosis. The aim of this study was to determine the gene expression profile of GIST carrying KIT exon 11 deletions and to identify genes associated with poor prognosis. Methods: Expression profiling was performed on 9 tumors with KIT exon 11 deletions and 7 without KIT exon 11 mutations using oligonucleotide microarrays. In addition, gene expression profiles for 35 GISTs were analysed by meta-analysis. Differentially expressed genes were identified and confirmed by qPCR. Expression of CD133 (prominin-1) protein (AC133) was also examined by tissue microarray (TMA) analysis of 204 GISTs from a population-based study in Western Sweden. Survival analysis was performed using Cox regression model. Results: Gene expression profiling, meta-analysis and qPCR demonstrated up-regulation of the stem cell marker CD133 in GIST carrying KIT exon 11 deletions. Immunohistochemical analysis on TMA confirmed CD133 expression in 28% of all tumors. CD133 positivity was frequent in gastric GIST (48%) versus small intestinal GIST (4%). CD133 positivity was also frequent in GIST with KIT exon 11 mutations (41%) compared to tumors with mutations in KIT exon 9, PDGFRA, or wild-type tumors (0-17%). There was no significant correlation between CD133 staining and NIH risk score. Survival analysis demonstrated significant correlation between presence of CD133 and shorter overall survival. Conclusions: The stem cell marker CD133 is expressed in a subset of predominantly gastric GIST with KIT exon 11 mutations and associated with poor prognosis.

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Project description:We used Kras/Hras/Nras-triple knockout MEFs expressing recombinant Nras to test the off-target effect of 2 Kras siRNAs at different transfection concentrations. Gene expression profiles were generated using Affimymetrix Mouse Gene ST 2.0 microarrays. Cells were transfected with Kras siRNAs and gene expression profiles were generated to identify genes up or down regulated by each siRNA at different transfection concentrations.

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Oncogenic potential of RAS isoforms in melanocytes

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Gene expression data of Kas-/- mouse emobryonic fibroblasts transfected with KRAS siRNAs

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A Retrospective Study of C-kit Mutation Status in Asian Patients With Advanced Gastro-intestinal Stromal Tumors (GIST) Treated With Imatinib.

Project description:Imatinib is the current standard treatment for advanced GIST. Previous studies have shown that GIST genotype was associated with treatment outcomes with exon 11 having superior outcome compared with exon 9 or WT.10, 11 In patients with exon 9 kit mutation, the response rate was higher at when imatinib was given at 800mg daily compared with the standard dose of 400mg daily. Although the data linking tyrosine kinase mutation status and imatinib response in metastatic GISTs is intriguing, more information is needed before mutation testing is adopted as part of the routine analysis of high-risk or overtly malignant KIT-expressing GISTs.25 Despite the fact that exon 9 mutations are associated with a lower response rate, overall survival does not appear to be better with high-dose therapy. The investigators propose to conduct a retrospective analysis of mutational analysis on patients with GIST and determine the relationship between patient response and imatinib dose.

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