Importance of hereditary variants in ovarian cancer and endometrial cancer

Background: Ovarian and endometrial cancers are characterized by a complex interplay of genetic alterations that underlie their pathogenesis, progression and clinical behavior. Recent advances in genomic technologies have revolutionized our understanding of the genetic landscape of these gynecological malignancies, shedding light on the intricate molecular mechanisms driving tumorigenesis. The introduction of advanced sequencing methods and precision medicine has facilitated the investigation of targeted treatments tailored to specific genetic variations, opening up novel paths for personalized therapeutic interventions. Methods: Herein in our study, we analyzed fifty patients diagnosed with ovarian cancer and twenty patients diagnosed with endometrial cancer using the NextSeq-550-Illumina, Next-generation sequencing (NGS) system and Qiaseq Targeted (Qiagen) DNA panel. Results: Thirty-seven variants were detected in 50 ovarian cancer-diagnosed cases. In total forty-six variants were detected, eleven (23.9%) of them were pathogenic/likely pathogenic -one novel- and thirty-five (76.1%) of them were classified as variants of uncertain significance (VUS), so the diagnostic rate for ovarian cancer in our study is (18%). In endometrium cancer we detected variants in 12 cases, we detected 17 variants, six (35.2%) of which were pathogenic/likely pathogenic, and 11 (64.7%) VUS. For endometrium cancer, the diagnostic rate was (30%). Conclusions: Integrating genomic data with clinical and pathological parameters holds promise for refining risk stratification, prognostication and treatment selection, ultimately improving outcomes for patients. This study provides the landscape of genetic research in our laboratory in ovarian and endometrial cancer cases and also highlights the importance of hereditary variants in ovarian and endometrium cancers.

Ovarian cancer; Endometrium cancer; NGSvvvv

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