Absence of the Frequently Reported PIK3CA, CASP8 and NOTCH1 Mutations in South Indian Oral Cancers

Abstract

Objectives

Somatic mutations of the PIK3CA, CASP8 and NOTCH1 have been frequently detected in various human cancers. Our study aims 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 & 20), CASP8 (exon 9) and NOTCH1 (exons 5, 6, 7, 8 & 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 & 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 mutation 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.

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