Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.Q564H
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BARD1

NM_000465.4:p.Q564H

Associated Papers

Characterization of a Genetic Variant in BARD1 in Subjects Undergoing Germline Testing for Hereditary Tumors.

Marino E et al.

Biomedicines, 2025

Functional Analysis of BARD1 Missense Variants on Homology-Directed Repair in Ovarian and Breast Cancers.

Li W et al.

Molecular Carcinogenesis, 2025

Structural dynamics of clinically-reported VUS in the BARD1 ARD-BRCT region to predict the molecular basis of alterations.

Barua SA et al.

Journal of Biomolecular Structure & Dynamics, 2024

BARD1 mystery: tumor suppressors are cancer susceptibility genes.

Hawsawi YM et al.

Bmc Cancer, 2022

p50 mono-ubiquitination and interaction with BARD1 regulates cell cycle progression and maintains genome stability.

Wu L et al.

Nature Communications, 2020

Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.

Mizukami K et al.

Ebiomedicine, 2020

32980694 (PubMed )
Supplement: mmc1.pdf

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.

Alenezi WM et al.

Genes, 2020

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

Watters AK et al.

Genes, 2020

mRNA Processing Factor CstF-50 and Ubiquitin Escort Factor p97 Are BRCA1/BARD1 Cofactors Involved in Chromatin Remodeling during the DNA Damage Response.

Fonseca D et al.

Molecular and Cellular Biology, 2018

Challenges in Interpreting Germline Mutations in BARD1 and ATM in Breast and Ovarian Cancer Patients.

DeLeonardis K et al.

The Breast Journal, 2017

Structural basis to stabilize the domain motion of BARD1-ARD BRCT by CstF50.

Choudhary RK et al.

Scientific Reports, 2017

28634376 (PubMed )
Supplement: 41598_2017_3816_MOESM1_ESM.doc

BARD1 splice variants display mislocalization in breast cancer cells and can alter the apoptotic response to cisplatin.

Marzec KA et al.

Cancer Letters, 2016

New concepts on BARD1: Regulator of BRCA pathways and beyond.

Irminger-Finger I et al.

The International Journal of Biochemistry & Cell Biology, 2016

Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.

Lee C et al.

Human Mutation, 2015

Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms.

Ratajska M et al.

Oncology Reports, 2015

The BARD1 BRCT domain contributes to p53 binding, cytoplasmic and mitochondrial localization, and apoptotic function.

Tembe V et al.

Cellular Signalling, 2015

Characterization of BARD1 targeting and dynamics at the centrosome: the role of CRM1, BRCA1 and the Q564H mutation.

Brodie KM et al.

Cellular Signalling, 2012

Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database.

Alshatwi AA et al.

Plos One, 2012

p53 inhibits mRNA 3' processing through its interaction with the CstF/BARD1 complex.

Nazeer FI et al.

Oncogene, 2011

Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.

Rebbeck TR et al.

Cancer Research, 2009

The BARD1 C-terminal domain structure and interactions with polyadenylation factor CstF-50.

Edwards RA et al.

Biochemistry, 2008

Crystal structure of the BARD1 ankyrin repeat domain and its functional consequences.

Fox D et al.

The Journal of Biological Chemistry, 2008

Oncogenic BARD1 isoforms expressed in gynecological cancers.

Li L et al.

Cancer Research, 2007

Structural requirements for the BARD1 tumor suppressor in chromosomal stability and homology-directed DNA repair.

Laufer M et al.

The Journal of Biological Chemistry, 2007

BARD1 translocation to mitochondria correlates with Bax oligomerization, loss of mitochondrial membrane potential, and apoptosis.

Tembe V et al.

The Journal of Biological Chemistry, 2007

Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies.

Karppinen SM et al.

Journal of Medical Genetics, 2006

Is there more to BARD1 than BRCA1?

Irminger-Finger I et al.

Nature Reviews. Cancer, 2006

BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.

Vahteristo P et al.

European Journal of Human Genetics : Ejhg, 2006

Role for a Bard1 SNP in Breast Cancer Susceptibility.

Alonso JMF

Ejifcc, 2005

Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer.

Sauer MK et al.

Journal of Medical Genetics, 2005

Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer.

Karppinen SM et al.

Journal of Medical Genetics, 2004

Nuclear-cytoplasmic translocation of BARD1 is linked to its apoptotic activity.

Jefford CE et al.

Oncogene, 2004

Nuclear-cytoplasmic shuttling of BARD1 contributes to its proapoptotic activity and is regulated by dimerization with BRCA1.

Rodriguez JA et al.

Oncogene, 2004

BARD1 participates with BRCA1 in homology-directed repair of chromosome breaks.

Westermark UK et al.

Molecular and Cellular Biology, 2003

BRCA1-dependent and independent functions of BARD1.

Irminger-Finger I et al.

The International Journal of Biochemistry & Cell Biology, 2002

Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations.

Ghimenti C et al.

Genes, Chromosomes & Cancer, 2002

Identification of BARD1 as mediator between proapoptotic stress and p53-dependent apoptosis.

Irminger-Finger I et al.

Molecular Cell, 2001

The BARD1-CstF-50 interaction links mRNA 3' end formation to DNA damage and tumor suppression.

Kleiman FE et al.

Cell, 2001

Conservation of function and primary structure in the BRCA1-associated RING domain (BARD1) protein.

Ayi TC et al.

Oncogene, 1998

Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.

Thai TH et al.

Human Molecular Genetics, 1998

[Molecular-genetic disruption in area near the BRCA1 gene, associated with ovarian carcinoma].

El'cheva IA et al.

Molekuliarnaia Biologiia, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."