Comparative study on the mutation spectrum of L-MYC and C-MYC genes of blood cfDNA in patients with ovarian cancer and healthy females

Background: This study aimed at detecting the mutations of L-MYC and C-MYC genes in ovarian cancer (OC) patients and healthy female volunteers using cell-free DNA (cfDNA).Methods: We evaluated cfDNA of 50 OC patients with different stages (I-IV) and 50 age-matched healthy female volunteers (controls) in order to access mutations in exon-1 of L-MYC (198 bp) and exon-3 of C-MYC (165 bp) genes using Sanger sequencing.Results: The total mutations reported were 43 and 7 in exon-1 of L-MYC and exon-3 of C-MYC genes, respective. The C-MYC and L-MYC gene mutational status recorded in both cases and controls were compared with the already available data on mutations in c-myc and L-myc databases viz SNP db-NCBI, ClinVar db, COSMIC, PubMed, and LitVar which suggested that the detected mutations in exon-1 of L-MYC and exon-3 of C-MYC genes are novel.Conclusion: Our study showed that cfDNA might be used for noninvasive detection of clinico-genomic profiles of OC patients and as a prognostic biomarker for the disease.

Automated summary

This study aimed to detect mutations in L-MYC and C-MYC genes in ovarian cancer patients and healthy female volunteers using cell-free DNA. The results showed that cfDNA could be used as a noninvasive method to detect the clinico-genomic profiles and prognostic biomarkers of ovarian cancer patients.