Genetic predisposition in gynecologic cancers: From knowledge to clinical management

Genetic predisposition contributes significantly to the development of specific gynecologic cancers, particularly ovarian and endometrial malignancies. Germline pathogenic variants in BRCA1 and BRCA2 genes account for a considerable proportion of hereditary ovarian cancer cases, while mismatch repair gene alterations underlie Lynch syndrome, strongly associated with endometrial cancer. Current international guidelines recommend universal genetic testing for all patients with ovarian cancer and systematic screening for mismatch repair deficiency in endometrial tumors. These molecular alterations directly impact therapeutic decisions, including the use of poly (ADP-ribose) polymerase inhibitors and immune checkpoint inhibitors, while enabling preventive strategies through cascade testing in relatives. The integration of genetic data with nuclear medicine imaging enhances disease characterization and treatment monitoring. Multidisciplinary collaboration is essential for the effective implementation of precision medicine in gynecologic oncology.