Analysis of<i>KRAS</i>Mutations of Exon 2 Codons 12 and 13 by SNaPshot Analysis in Comparison to Common DNA Sequencing

Zinsky, Rica; Bölükbas, Servet; Bartsch, Holger; Schirren, J; Fisseler‐Eckhoff, Annette

doi:10.1155/2010/789363

Cited by 26 publications

(23 citation statements)

References 14 publications

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“…The Kras mutant-enriched polymerase chain reaction (PCR) Kits (FemtoPath®) and a following direct sequencing method were applied to analyze exon 2 of the Kras gene. The reason why we choose Kras exon 2 to analyze is because Kras gene mutations are mainly known to cluster in several hotspots, with exon 2 (codons 12 and 13) being most commonly affected [6–9]. …”

Section: Main Textmentioning

confidence: 99%

The status of Her2 amplification and Kras mutations in mucinous ovarian carcinoma

et al. 2016

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Jayson GC et al. remarked in Lancet that nearly 100% of mucinous ovarian cancer cases have Kras mutation as well as a high frequency of Her2 amplification. Using the Abbott PathVysion Her2 DNA Probe Kit and Kras mutant-enriched PCR Kits (FemtoPath®), 21 samples of primary ovarian mucinous cystadenocarcinomas from Taiwanese patients were examined to determine the status of Her2 amplification and Kras mutations. Our results showed the Her2 amplification rates were 33.33%, while the Kras mutation rates were 61.90%. We present here our results in order to enlighten the readership that the ~100% Kras mutant frequency and the high Her2 amplification rate reported by Jayson et al. may be too exaggerated to be applicable into all populations. Additionally, we report another 2 novel Kras mutations (A11V, V14I).

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Section: Main Textmentioning

confidence: 99%

The status of Her2 amplification and Kras mutations in mucinous ovarian carcinoma

et al. 2016

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“…Among these genetic changes, the K-ras mutation was most frequently detected with 45%–100% frequency in the tumor tissue and a 77% frequency in the serum of patients with PC or pancreatic adenocarcinoma (PAC) [22, 43, 87–88]. 50–75% patients with PAC have mutations in TP53 [43, 89].…”

Section: Genetic Biomarkersmentioning

confidence: 99%

Advances in Biomarker Research for Pancreatic Cancer

Bhat¹,

Wang²,

Ma³

et al. 2012

CPD

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Pancreatic cancer (PC) is a leading cause of cancer related deaths in United States. The lack of early symptoms results in late-stage detection and a high mortality rate. Currently, the only potentially curative approach for PC is surgical resection, which is often unsuccessful because the invasive and metastatic nature of the tumor masses makes their complete removal difficult. Consequently, patients suffer relapses from remaining cancer stem cells or drug resistance that eventually lead to death. To improve the survival rate, the early detection of PC is critical. Current biomarker research in PC indicates that a serum carbohydrate antigen, CA 19-9, is the only available biomarker with approximately 90% specificity to PC. However, the efficacy of CA 19-9 for assessing prognosis and monitoring patients with PC remains contentious. Thus, advances in technology and the detection of new biomarkers with high specificity to PC are needed to reduce the mortality rate of pancreatic cancer.

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“…Secondly, we used a SNaPshot assay, which is a targeted approach that can be reliably used for small biopsies or cytology samples . There have been several reports that the SNaPshot assay is superior to conventional sequence analyses and NGS assays in both sensitivity and specificity . It is reported that tumour cell content sensitivity thresholds were 10% for a SNaPshot assay, 20% for direct sequencing and 10–0% for NGS .…”

Section: Discussionmentioning

confidence: 99%

A mutation analysis of the EGFR pathway genes, RAS, EGFR, PIK3CA, AKT1 and BRAF, and TP53 gene in thymic carcinoma and thymoma type A/B3

et al. 2019

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Aims Thymic carcinoma is rare and usually has a fatal outcome. Gene mutations in the epidermal growth factor receptor (EGFR) signalling pathway and TP53 have not been well analysed in thymic carcinoma. Methods and results We examined a large cohort of thymic carcinoma and thymoma type A/B3 and looked for gene mutations in the RAS family, EGFR, PIK3CA, AKT1, BRAF and TP53. Among 54 thymic carcinoma cases, RAS family mutations were detected in 10 cases, EGFR in two, PIK3CA in one, AKT1 in one, BRAF in none and TP53 in five. Among 33 thymoma type A/B3 cases, HRAS gene mutation were found in one, PIK3CA in two and AKT1 in one. All these mutations were those of missense type activating mutations. RAS family mutations were significantly more frequent in thymic carcinoma than in thymoma type A/B3 (P = 0.0461). A prognostic analysis focusing on thymic squamous cell carcinoma cases (n = 44) showed that the overall survival was significantly shorter in patients with EGFR pathway mutations (n = 9) than in those without in a univariate analysis (P = 0.0173). Subsequently, EGFR pathway mutations were selected as an independent factor for a poor overall survival in a multivariate analysis (P = 0.0389). Conclusions Mutations in the EGFR pathway and TP53 in thymic carcinoma may be frequent, and the EGFR pathway mutations may be associated with a poor prognosis in thymic squamous cell carcinoma patients. The therapeutic significance of gene mutations in thymic carcinoma should be further clarified.

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Analysis ofKRASMutations of Exon 2 Codons 12 and 13 by SNaPshot Analysis in Comparison to Common DNA Sequencing

Cited by 26 publications

References 14 publications

The status of Her2 amplification and Kras mutations in mucinous ovarian carcinoma

The status of Her2 amplification and Kras mutations in mucinous ovarian carcinoma

Advances in Biomarker Research for Pancreatic Cancer

A mutation analysis of the EGFR pathway genes, RAS, EGFR, PIK3CA, AKT1 and BRAF, and TP53 gene in thymic carcinoma and thymoma type A/B3

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