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

AbstractBackgroundThis 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).MethodsWe 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.ResultsThe 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.ConclusionOur 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.