Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

BARD1 and Breast Cancer: the Possibility of Creating Screening Tests and New Preventive and Therapeutic Pathways for Predisposed Women

Version 1 : Received: 15 August 2020 / Approved: 18 August 2020 / Online: 18 August 2020 (03:08:11 CEST)

How to cite: Śniadecki, M.; Brzeziński, M.; Darecka, K.; Klasa-Mazurkiewicz, D.; Poniewierza, P.; Krzeszowiec, M.; Kmieć, N.; Wydra, D. BARD1 and Breast Cancer: the Possibility of Creating Screening Tests and New Preventive and Therapeutic Pathways for Predisposed Women. Preprints 2020, 2020080371 (doi: 10.20944/preprints202008.0371.v1). Śniadecki, M.; Brzeziński, M.; Darecka, K.; Klasa-Mazurkiewicz, D.; Poniewierza, P.; Krzeszowiec, M.; Kmieć, N.; Wydra, D. BARD1 and Breast Cancer: the Possibility of Creating Screening Tests and New Preventive and Therapeutic Pathways for Predisposed Women. Preprints 2020, 2020080371 (doi: 10.20944/preprints202008.0371.v1).

Abstract

Current oncological developments are based on improved understanding of genetics, and especially the discovery of genes whose alterations affect cell functions with consequences for the whole body. Our work is focused on the most important of these genes, the BARD1 and its oncogenic role in breast cancer. Most importantly, the study points to new avenues in the treatment and prevention of the most frequent female cancer based on BARD1 research. The BARD1 and BRCA1 proteins have similar structures and functions, and they combine to form the new molecule BARD1-BRCA1 heterodimer. Through ubiquitination, this heterodimer has significant effects on individual proteins, enabling, among others, the destruction of damaged DNA fragments. Ubiquitination, as well as stabilizing chromatin, or regulating the number of centrosomes, confirms the protective cooperation of BARD1 and BRCA1 in the stabilization of the genome. The overexpression of the oncogenic isoforms BARD1β and BARD1δ permit cancer development. The introduction of routine tests, for instance, to identify the presence of the BARD1β isoform, would make it possible to detect patients at high risk of developing cancer. On the other hand, introducing BARD1δ isoform blocking therapy, which would reduce estrogen sensitivity, may be a new line of cancer therapy with potential to modulate responses to existing treatments. It is possible that the BARD 1 gene offers new hope for improving breast cancer therapy.

Subject Areas

breast cancer; BARD1; surveillance; management; genetic testing; predisposition; susceptibility; neoadjuvant; chemotherapy

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