Absence of the frequently reported PIK3CA, CASP8, and NOTCH1 mutations in South Indian oral cancers
| Autor: | Arasambattu Kannan Munirajan, Ramamurthy Rajaraman, Ganesan Arunkumar, Avaniyapuram Kannan Murugan, C Ajay, M Nagarajan |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Adult Male Class I Phosphatidylinositol 3-Kinases DNA Mutational Analysis India Single-nucleotide polymorphism Biology medicine.disease_cause law.invention 03 medical and health sciences symbols.namesake Exon 0302 clinical medicine law medicine SNP Humans Receptor Notch1 General Dentistry Gene Polymerase chain reaction Sanger sequencing Genetics Mutation Caspase 8 Cancer Middle Aged medicine.disease 030104 developmental biology Otorhinolaryngology 030220 oncology & carcinogenesis symbols Carcinoma Squamous Cell Female Mouth Neoplasms |
| Zdroj: | Oral diseases. 23(5) |
| ISSN: | 1601-0825 |
| Popis: | Objectives Somatic mutations of the PIK3CA, CASP8, and NOTCH1 have been frequently detected in various human cancers. Our study aimed to analyze the mutational status of these genes in South Indian oral cancers. Subjects and methods We performed mutational analysis of the PIK3CA (exons 9 and 20), CASP8 (exon 9), and NOTCH1 (exons 5, 6, 7, 8, and 9) genes in 96, 48, and 44 oral cancer samples, respectively. All the specified exons were PCR (polymerase chain reaction)-amplified and directly sequenced by Sanger sequencing. Results PIK3CA gene mutations were not found; however, a synonymous single nucleotide polymorphism (SNP) [rs17849079] was observed frequently [35/96 (36.4%)] in oral cancer samples. Further, no mutations were detected in the CASP8 gene, but observed a frequent [32/48 (66.6%)] SNP [rs1045487] in the oral cancer samples. We did not detect any mutation in the NOTCH1 gene (exons 5, 6, 7, 8, and 9) in all the [0/44] analyzed oral cancer samples. Conclusions This is the first study that reports the status of the PIK3CA, CASP8, and NOTCH1 mutations in South Indian oral cancer samples. Our study suggests that either mutations in these genes are uncommon in South Indian oral cancer samples or likely other genes in this pathway might be mutated. |
| Databáze: | OpenAIRE |
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