scholarly journals Specify Other KRAS Codon 12 Mutation

2020 ◽  
Author(s):  
Keyword(s):  
2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Kiriko Hiraoka ◽  
Takahiro Inoue ◽  
Rhys Dylan Taylor ◽  
Takayoshi Watanabe ◽  
Nobuko Koshikawa ◽  
...  
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BMC Cancer ◽  
2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Wenbin Li ◽  
Tian Qiu ◽  
Wenxue Zhi ◽  
Susheng Shi ◽  
Shuangmei Zou ◽  
...  

2006 ◽  
Vol 52 (10) ◽  
pp. 1855-1863 ◽  
Author(s):  
Giulia Amicarelli ◽  
Daniel Adlerstein ◽  
Erlet Shehi ◽  
Fengfei Wang ◽  
G Mike Makrigiorgos

Abstract Background: Genotyping methods that reveal single-nucleotide differences are useful for a wide range of applications. We used digestion of 3-way DNA junctions in a novel technology, OneCutEventAmplificatioN (OCEAN) that allows sequence-specific signal generation and amplification. We combined OCEAN with peptide-nucleic-acid (PNA)-based variant enrichment to detect and simultaneously genotype v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) codon 12 sequence variants in human tissue specimens. Materials and Methods: We analyzed KRAS codon 12 sequence variants in 106 lung cancer surgical specimens. We conducted a PNA-PCR reaction that suppresses wild-type KRAS amplification and genotyped the product with a set of OCEAN reactions carried out in fluorescence microplate format. The isothermal OCEAN assay enabled a 3-way DNA junction to form between the specific target nucleic acid, a fluorescently labeled “amplifier”, and an “anchor”. The amplifier-anchor contact contains the recognition site for a restriction enzyme. Digestion produces a cleaved amplifier and generation of a fluorescent signal. The cleaved amplifier dissociates from the 3-way DNA junction, allowing a new amplifier to bind and propagate the reaction. Results: The system detected and genotyped KRAS sequence variants down to ∼0.3% variant-to-wild-type alleles. PNA-PCR/OCEAN had a concordance rate with PNA-PCR/sequencing of 93% to 98%, depending on the exact implementation. Concordance rate with restriction endonuclease-mediated selective-PCR/sequencing was 89%. Conclusion: OCEAN is a practical and low-cost novel technology for sequence-specific signal generation. Reliable analysis of KRAS sequence alterations in human specimens circumvents the requirement for sequencing. Application is expected in genotyping KRAS codon 12 sequence variants in surgical specimens or in bodily fluids, as well as single-base variations and sequence alterations in other genes.


2020 ◽  
Author(s):  
Aysel Ahadova ◽  
Pauline L. Pfuderer ◽  
Maarit Ahtiainen ◽  
Alexej Ballhausen ◽  
Lena Bohaumilitzky ◽  
...  

Background Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). In the present study, we asked whether cancers detected under regular colonoscopy surveillance (incident cancers) are phenotypically different from cancers detected at first colonoscopy (prevalent cancers). Methods We analyzed clinical, histological, immunological and mutational characteristics, including panel sequencing and high through-put coding microsatellite (cMS) analysis, in 28 incident and 67 prevalent LS CRCs. Results Incident cancers presented with lower UICC and T stage compared to prevalent cancers (p<0.0005). The majority of incident cancers (21/28) were detected after previous colonoscopy without any pathological findings. On the molecular level, incident cancers presented with a significantly lower KRAS codon 12/13 (1/23, 4.3% vs. 11/21, 52%; p=0.0005) and pathogenic TP53 mutation frequency (0/17, 0% vs. 7/21, 33.3%; p=0.0108,) compared to prevalent cancers; 10/17 (58.8%) incident cancers harbored one or more truncating APC mutations, all showing mutational signatures of mismatch repair (MMR) deficiency. The proportion of MMR deficiency-related mutational events was significantly higher in incident compared to prevalent CRC (p=0.018). Conclusions LS CRC diagnosed under regular colonoscopy surveillance are biologically distinct, suggesting that the preventive effectiveness of colonoscopy in LS depends on the molecular subtypes of tumors.


2020 ◽  
Author(s):  
Maria Paz Zafra Martin ◽  
Direna Alonso-Curbelo ◽  
J. Erby Wilkinson ◽  
Emma Schatoff ◽  
Lukas E. Dow

2013 ◽  
Vol 20 (5) ◽  
pp. 1310-1317 ◽  
Author(s):  
Rhys Dylan Taylor ◽  
Sefan Asamitsu ◽  
Tomohiro Takenaka ◽  
Makoto Yamamoto ◽  
Kaori Hashiya ◽  
...  
Keyword(s):  

2015 ◽  
Vol 21 (42) ◽  
pp. 14996-15003 ◽  
Author(s):  
Rhys D. Taylor ◽  
Anandhakumar Chandran ◽  
Gengo Kashiwazaki ◽  
Kaori Hashiya ◽  
Toshikazu Bando ◽  
...  

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