Please use this identifier to cite or link to this item:
http://hdl.handle.net/11452/34528
Title: | Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers |
Authors: | Bursa Uludağ Üniversitesi/Fen Edebiyat Fakültesi/Moleküler Biyoloji ve Genetik Bölümü. Bursa Uludağ Üniversitesi/Fen Bilimleri Enstitüsü/Moleküler Biyoloji ve Genetik Anabilim Dalı. Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı. 0000-0002-0522-9432 0000-0002-9802-0880 Pirim, Dilek Kaya, Niyazi Yıldırım, Elif Uz Sağ, Şebnem Özemri Temel, Şehime Gülsün ABA-4957-2020 FEL-0562-2022 AAB-4296-2021 AAH-8355-2021 AAG-8385-2021 55978575700 57217533949 13807893000 36638231300 6507885442 |
Keywords: | Biochemistry & molecular biology Chemistry Polymer science BRCA1/2 In silico analyses Non-coding variants BRCA-related cancer Next-generation sequencing Germline variants Genetic-variants Breast Mutations Association Risk Susceptibility Population Prediction Prostate |
Issue Date: | 1-Nov-2020 |
Publisher: | Elsevier |
Citation: | Pirim, D. vd. (2020). "Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers". International Journal of Biological Macromolecules, 162, 1166-1177. |
Abstract: | Pathogenic variants in the coding regions of the BRCA1/2 lead dysfunctional or nonfunctional BRCA proteins however the contribution of non-coding BRCA1/2 variants to BRCA-related disease risk has not been fully elucidated. Thus, we characterized the functional impact of both coding and non-coding BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers. The data were produced by resequencing the exons and exon-intron junctions of the BRCA1/2 in 125 individuals and were comprehensively analyzed by using bioinformatics tools and databases. A total of 96 variants (59 coding and 37 non-coding) including 7 novel variants were identified and analyzed for their functional importance. We identified 11 missense variants that potentially affect protein function; 22 variants were likely to alter different types of posttranslational modifications. Also, multiple non-coding BRCA1/2 variants were found to reside in the critical regulatory regions that have the potential to act as eQTLs and affect alternative splicing. The results of our study shed light on the possible contributions of not only coding variants but also non-coding BRCA1/2 variants in BRCRA-related cancers. Further investigation is required to fully understand their potential associations with phenotypes which may ultimately lead their utilization on cancer management as a biomarker. |
URI: | https://doi.org/10.1016/j.ijbiomac.2020.06.222 https://www.sciencedirect.com/science/article/pii/S0141813020336758 http://hdl.handle.net/11452/34528 |
ISSN: | 0141-8130 1879-0003 |
Appears in Collections: | Scopus Web of Science |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.