Version 1
: Received: 15 October 2024 / Approved: 16 October 2024 / Online: 18 October 2024 (08:45:04 CEST)
How to cite:
Mabonga, L.; Molefi, T.; Dlamini, Z. From Genes to Clinical Practice: Exploring the Genomic Underpinnings of Endometrial Cancer. Preprints2024, 2024101326. https://doi.org/10.20944/preprints202410.1326.v1
Mabonga, L.; Molefi, T.; Dlamini, Z. From Genes to Clinical Practice: Exploring the Genomic Underpinnings of Endometrial Cancer. Preprints 2024, 2024101326. https://doi.org/10.20944/preprints202410.1326.v1
Mabonga, L.; Molefi, T.; Dlamini, Z. From Genes to Clinical Practice: Exploring the Genomic Underpinnings of Endometrial Cancer. Preprints2024, 2024101326. https://doi.org/10.20944/preprints202410.1326.v1
APA Style
Mabonga, L., Molefi, T., & Dlamini, Z. (2024). From Genes to Clinical Practice: Exploring the Genomic Underpinnings of Endometrial Cancer. Preprints. https://doi.org/10.20944/preprints202410.1326.v1
Chicago/Turabian Style
Mabonga, L., Thulo Molefi and Zodwa Dlamini. 2024 "From Genes to Clinical Practice: Exploring the Genomic Underpinnings of Endometrial Cancer" Preprints. https://doi.org/10.20944/preprints202410.1326.v1
Abstract
Endometrial cancer (EC), a prevalent gynecological malignancy, presents significant challenges due to its genetic complexity and heterogeneity. The genomic landscape of EC is underpinned by genetic alterations, such as mutations in PTEN, PIK3CA, and ARID1A, and chromosomal abnormalities. The identification of molecular subtypes—POLE-ultramutated, microsatellite instability (MSI), copy-number low, and copy-number high—illustrates the diverse genetic profiles within EC and underscores the need for subtype-specific therapeutic strategies. The integration of multi-omics technologies such as CRISPR gene editing, single-cell genomics, and spatial transcriptomics, have revolutionized our understanding and approach to studying EC, and offers a holistic perspective that enhances the ability to identify novel biomarkers and therapeutic targets. The translation of these multi-omics findings into personalized medicine and precision oncology is increasingly feasible in clinical practice. Targeted therapies such as PI3K/AKT/mTOR inhibitors have demonstrated the potential for improved treatment efficacy tailored to specific genetic alterations. Despite these advancements, challenges persist in terms of variability in patient responses, the integration of genomic data into clinical workflows, and ethical considerations. This review explores the genomic underpinnings of EC, from genes to clinical practice. It highlights the ongoing need for multidisciplinary research and collaboration to address the complexities of EC and improve diagnosis, treatment, and patient outcomes.
Biology and Life Sciences, Biochemistry and Molecular Biology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
