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Transcriptome Patterns of BRCA1- and BRCA2- Mutated Breast and Ovarian Cancers

Authors :
Arsen Arakelyan
Ani Melkonyan
Siras Hakobyan
Uljana Boyarskih
Arman Simonyan
Lilit Nersisyan
Maria Nikoghosyan
Maxim Filipenko
Hans Binder
Source :
International Journal of Molecular Sciences, Vol 22, Iss 3, p 1266 (2021)
Publication Year :
2021
Publisher :
MDPI AG, 2021.

Abstract

Mutations in the BRCA1 and BRCA2 genes are known risk factors and drivers of breast and ovarian cancers. So far, few studies have been focused on understanding the differences in transcriptome and functional landscapes associated with the disease (breast vs. ovarian cancers), gene (BRCA1 vs. BRCA2), and mutation type (germline vs. somatic). In this study, we were aimed at systemic evaluation of the association of BRCA1 and BRCA2 germline and somatic mutations with gene expression, disease clinical features, outcome, and treatment. We performed BRCA1/2 mutation centered RNA-seq data analysis of breast and ovarian cancers from the TCGA repository using transcriptome and phenotype “portrayal” with multi-layer self-organizing maps and functional annotation. The results revealed considerable differences in BRCA1- and BRCA2-dependent transcriptome landscapes in the studied cancers. Furthermore, our data indicated that somatic and germline mutations for both genes are characterized by deregulation of different biological functions and differential associations with phenotype characteristics and poly(ADP-ribose) polymerase (PARP)-inhibitor gene signatures. Overall, this study demonstrates considerable variation in transcriptomic landscapes of breast and ovarian cancers associated with the affected gene (BRCA1 vs. BRCA2), as well as the mutation type (somatic vs. germline). These results warrant further investigations with larger groups of mutation carriers aimed at refining the understanding of molecular mechanisms of breast and ovarian cancers.

Details

Language :
English
ISSN :
14220067 and 16616596
Volume :
22
Issue :
3
Database :
Directory of Open Access Journals
Journal :
International Journal of Molecular Sciences
Publication Type :
Academic Journal
Accession number :
edsdoj.2a03b33d0d749dfa9feb9c19ebc46e1
Document Type :
article
Full Text :
https://doi.org/10.3390/ijms22031266