The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers

Author(s)

Watters, A. K., Seltzer, E. S., MacKenzie, D., Jr., Young, M., Muratori, J., Hussein, R., Sodoma, A. M., To, J., Singh, M., & Zhang, D.

Title

Date

2020

Publisher

MDPI AG

Subject

BARD1
BARD1 isoforms
BRCA1 Protein genetics
Central Nervous System Neoplasms genetics
Epigenesis, Genetic
Gastrointestinal Neoplasms genetics
Humans
Index Medicus
Lung Neoplasms genetics
Mutation
Tumor Suppressor Proteins genetics
Ubiquitin-Protein Ligases genetics cancers
Single nucleotide polymorphism (SNP)

Language

English

Abstract

Breast Cancer 1 (BRCA1) gene is a well-characterized tumor suppressor gene, mutations of which are primarily found in women with breast and ovarian cancers. BRCA1-associated RING domain 1 (BARD1) gene has also been identified as an important tumor suppressor gene in breast, ovarian, and uterine cancers. Underscoring the functional significance of the BRCA1 and BARD1 interactions, prevalent mutations in the BRCA1 gene are found in its RING domain, through which it binds the RING domain of BARD1. BARD1-BRCA1 heterodimer plays a crucial role in a variety of DNA damage response (DDR) pathways, including DNA damage checkpoint and homologous recombination (HR). However, many mutations in both BARD1 and BRCA1 also exist in other domains that significantly affect their biological functions. Intriguingly, recent genome-wide studies have identified various single nucleotide polymorphisms (SNPs), genetic alterations, and epigenetic modifications in or near the BARD1 gene that manifested profound effects on tumorigenesis in a variety of non-breast and non-gynecological cancers. In this review, we will briefly discuss the molecular functions of BARD1, including its BRCA1-dependent as well as BRCA1-independent functions. We will then focus on evaluating the common BARD1 related SNPs as well as genetic and epigenetic changes that occur in the non-BRCA1-dominant cancers, including neuroblastoma, lung, and gastrointestinal cancers. Furthermore, the pro- and anti-tumorigenic functions of different SNPs and BARD1 variants will also be discussed.

Source

Genes, Volume 11, Issue 7, July 2020, pages 829

Rights

© 2020 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 (http://creativecommons.org/licenses/by/4.0/).

Format

PDF

Identifier

https://repository.nyitlibrary.org/files/original/56c2fc1085f9d075656bb58d8d6a497c.pdf

https://doi.org/10.3390/genes11070829

Bibliographic Citation

Watters, A. K., Seltzer, E. S., MacKenzie, D., Jr., Young, M., Muratori, J., Hussein, R., Sodoma, A. M., To, J., Singh, M., & Zhang, D. (2020). The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers. In Genes (Vol. 11, Issue 7, p. 829). MDPI AG. https://doi.org/10.3390/genes11070829

Files

Collection

NYITCOM - Faculty Publications

Tags

apoptosis, BARD1, Bard1 gene, BARD1 isoforms, BARD1 protein, BRCA1 associated ring domain protein 1, BRCA1 protein, breast cancer, Cancers, carcinogenesis, cell cycle regulation, Central Nervous System Neoplasms, central nervous system tumor, digestive system cancer, DNA, DNA damage checkpoint, DNA damage response, DNA modification, Epigenesis, epigenetics, esophageal squamous cell carcinoma, Ewing sarcoma, Gastrointestinal Neoplasms, gastrointestinal tumor, gene function, gene mutation, Genetic, genetic epigenesis, genetic variability, genetics, genome-wide association study, heterodimer, homologous recombination, human, Humans, immunoglobulin enhancer binding protein, leukemia, liver cell carcinoma, lung cancer, Lung Neoplasms, lung tumor, mutation, nephroblastoma, neuroblastoma, nicotinamide adenine dinucleotide adenosine diphosphate ribosyltransferase, non small cell lung cancer, ovary cancer, pancreas cancer, prevalence, protein binding, protein domain, protein p53, Review, single nucleotide polymorphism, Single nucleotide polymorphism (SNP), tumor suppressor gene, tumor suppressor protein, Tumor Suppressor Proteins, ubiquitin protein ligase, Ubiquitin-Protein Ligases

Citation

Watters, A. K., Seltzer, E. S., MacKenzie, D., Jr., Young, M., Muratori, J., Hussein, R., Sodoma, A. M., To, J., Singh, M., & Zhang, D., The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers. Genes, Volume 11, Issue 7, July 2020, pages 829, New York Tech Institutional Repository, accessed April 28, 2024, https://repository.nyitlibrary.org/items/show/3781

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