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  5. In silico study to predict the structural and functional consequences of SNPs on biomarkers of Ovarian Cancer (OC) and BPA exposure-associated OC
 
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In silico study to predict the structural and functional consequences of SNPs on biomarkers of Ovarian Cancer (OC) and BPA exposure-associated OC
File(s)
In Silico Study to Predict the Structural and Functional Consequences of SNPs on Biomarkers of Ovarian Cancer (OC) and BPA E.pdf (5.62 MB)
Published version
Author(s)
Zahra, Aeman
Hall, Marcia
Chatterjee, Jayanta
Sisu, Cristina
Karteris, Emmanouil
Type
Journal Article
Abstract
BACKGROUND: Recently, we have shown that seven genes, namely GBP5, IRS2, KRT4, LINCOO707, MRPL55, RRS1 and SLC4A11, have prognostic power for the overall survival in ovarian cancer (OC). METHODS: We present an analysis on the association of these genes with any phenotypes and mutations indicative of involvement in female cancers and predict the structural and functional consequences of those SNPS using in silico tools. RESULTS: These seven genes present with 976 SNPs/mutations that are associated with human cancers, out of which 284 related to female cancers. We have then analysed the mutation impact on amino acid polarity, charge and water affinity, leading to the identification of 30 mutations in gynaecological cancers where amino acid (aa) changes lead to opposite polarity, charges and water affinity. Out of these 30 mutations identified, only a missense mutation (i.e., R831C/R804C in uterine corpus endometrial carcinomas, UCEC) was suggestive of structural damage on the SLC4A11 protein. CONCLUSIONS: We demonstrate that the R831C/R804C mutation is deleterious and the predicted ΔΔG values suggest that the mutation reduces the stability of the protein. Future in vitro studies should provide further insight into the role of this transporter protein in UCEC.
Date Issued
2022-02-02
Date Acceptance
2022-01-30
Citation
International Journal of Molecular Sciences, 2022, 23 (3)
URI
http://hdl.handle.net/10044/1/108101
DOI
https://www.dx.doi.org/10.3390/ijms23031725
ISSN
1422-0067
Publisher
MDPI AG
Journal / Book Title
International Journal of Molecular Sciences
Volume
23
Issue
3
Copyright Statement
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.
This article is an open access article distributed under the terms and conditions of the Creative Commons
Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/)
License URL
https://creativecommons.org/licenses/by/4.0/
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/35163645
PII: ijms23031725
Subjects
Biomarkers, Tumor
Computational Biology
Female
Gene Expression Regulation, Neoplastic
Genital Neoplasms, Female
Humans
Polymorphism, Single Nucleotide
Prognosis
missense mutations
protein modelling
SLC4A11
uterine corpus endometrial carcinoma
Publication Status
Published
Coverage Spatial
Switzerland
Article Number
ARTN 1725
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