Endometrial cancer: a genetic point of view

BACKGROUND: Endometrial cancer is the fourth most frequent gynecological cancer and the most frequent type of uterine cancer. There is an increase in the incidence and mortality of uterine cancers in the past few decades, and there are no well-established screening programs for endometrial cancer currently. Most endometrial cancers arise through the interplay of familial, genetic, and lifestyle factors. Although a number of genetic factors modify endometrial cancer susceptibility, they are not of standard use in the clinical assessment of prognosis. We conducted a comprehensive systematic literature review to provide an overview of the relationship between genetic factors and risk for endometrial cancer. METHODS: MEDLINE and EMBASE databases were searched for studies between January 2010 to March 2020 reporting the genes associated with endometrial cancer. RESULTS: Through the selection process, we retrieved 186 studies comprising 329 genes identified using several molecular methodologies in all human chromosomes and in mitochondrial DNA. Endometrial cancer exhibits a molecular complexity and heterogeneity coherent with its clinical and histologic variability. Improved characterization of molecular alterations of each histological type provides relevant information about the prognosis and potential response to new therapies. CONCLUSIONS: The current challenge is the integration of clinicopathologic and molecular factors to improve the diagnosis, prognosis, and treatment of endometrial cancer.