Version 1
: Received: 25 September 2024 / Approved: 25 September 2024 / Online: 25 September 2024 (15:33:27 CEST)
How to cite:
Lenkova, K.; Khusainova, R.; Minyazeva, R.; Zaripova, A.; Gilyazova, I.; Mokrysheva, N.; Minniakhmetov, I. Germline Variants in Proto-Oncogenes and Tumor Suppressor Genes in Women with Cervical Cancer. Preprints2024, 2024092039. https://doi.org/10.20944/preprints202409.2039.v1
Lenkova, K.; Khusainova, R.; Minyazeva, R.; Zaripova, A.; Gilyazova, I.; Mokrysheva, N.; Minniakhmetov, I. Germline Variants in Proto-Oncogenes and Tumor Suppressor Genes in Women with Cervical Cancer. Preprints 2024, 2024092039. https://doi.org/10.20944/preprints202409.2039.v1
Lenkova, K.; Khusainova, R.; Minyazeva, R.; Zaripova, A.; Gilyazova, I.; Mokrysheva, N.; Minniakhmetov, I. Germline Variants in Proto-Oncogenes and Tumor Suppressor Genes in Women with Cervical Cancer. Preprints2024, 2024092039. https://doi.org/10.20944/preprints202409.2039.v1
APA Style
Lenkova, K., Khusainova, R., Minyazeva, R., Zaripova, A., Gilyazova, I., Mokrysheva, N., & Minniakhmetov, I. (2024). Germline Variants in Proto-Oncogenes and Tumor Suppressor Genes in Women with Cervical Cancer. Preprints. https://doi.org/10.20944/preprints202409.2039.v1
Chicago/Turabian Style
Lenkova, K., Natalia Mokrysheva and Ildar Minniakhmetov. 2024 "Germline Variants in Proto-Oncogenes and Tumor Suppressor Genes in Women with Cervical Cancer" Preprints. https://doi.org/10.20944/preprints202409.2039.v1
Abstract
Cervical cancer (CC) remains a significant global health challenge, characterized by its genetic heterogeneity and complex molecular landscape. The current study investigates the germline variants in proto-oncogenes and tumor suppressor genes among patients diagnosed with cervical cancer. Utilizing a custom NGS panel targeting 48 genes implicated in oncogenesis, we identified 148 nucleotide sequence alterations across the cohort. Of these, 35 variants (23.6%) were classified as benign, while 105 (70.9%) were categorized as variants of uncertain significance (VUS), whose clinical relevance remains to be elucidated. Moreover, we discovered seven pathogenic or likely pathogenic mutations, as well as a polymorphic variant rs1042522 in the TP53 gene, which has been previously associated with an increased risk of CC. Our findings contribute to the understanding of the molecular-genetic landscape of cervical cancer, highlighting the potential impact of rare germline mutations on the disease's pathogenesis and progression. This study underscores the importance of comprehensive genetic screening in improving the diagnostic and therapeutic strategies for cervical cancer patients.
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.
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