Variants of Fumarate Hydratase Gene in Uterine Disorders: A Clinical Trial

Objective: The dysregulation of metabolism is a hallmark cancer. Enzymes tricarboxylic acid (TCA) cycle have key role in pathogenesis carcinogenesis as oncometabolits. variants fumarate hydratase (FH) gene been linked to sporadic tumors and familial tumor propensity. To asses the prevalence FH endometrial carcinoma (EC) uterine leiomyomas (UL). Material Methods: This prospective study included 58 patients with EC 44 UL. were analyzed DNA samples collected from peripheral circulation. All exons replicated by polymerase chain reaction utilizing specific primers including intron-exon boundaries than was sequenced Sanger method. Results: Only two detected different patients. c.927G>A (p.Pro309Pro) c.63C>T (p.Ala21Ala) observed UL, respectively. (p.Pro309=) (p.Ala21=) are rare inside overall population allele frequency ranges 0.02428, 0.000014 Conclusion: contribution genes encoding TCA enzymes cells has provided understanding fundamental on metabolic alterations carcinogenesis. Further studies needed discover novel mutations identify appropriate treatment.