Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.R21G
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BARD1

NM_000465.4:p.R21G

Associated Papers

Reporting of molecular test results from cell-free DNA analyses: expert consensus recommendations from the 2023 European Liquid Biopsy Society ctDNA Workshop.

de Jager VD et al.

Ebiomedicine, 2025

40121940 (PubMed )
Supplement: mmc4.docx

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

Li W et al.

Molecular Carcinogenesis, 2025

Molecular dynamics simulations reveal the effect of mutations in the RING domains of BRCA1-BARD1 complex and its relevance to the prognosis of breast cancer.

Kiewhuo K et al.

Journal of Biomolecular Structure & Dynamics, 2023

36775657 (PubMed )
Supplement: supplement_1.pdf

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Ozgencil M et al.

Plos One, 2021

Interplay between BRCA1 and GADD45A and Its Potential for Nucleotide Excision Repair in Breast Cancer Pathogenesis.

Pietrasik S et al.

International Journal of Molecular Sciences, 2020

Evaluation of site-specific homologous recombination activity of BRCA1 by direct quantitation of gene editing efficiency.

Yoshino Y et al.

Scientific Reports, 2019

BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.

Kowalik A et al.

Plos One, 2018

The role of BRCA1 in DNA double-strand repair: past and present.

Caestecker KW et al.

Experimental Cell Research, 2013

BRCA1 and Its Network of Interacting Partners.

Christou CM et al.

Biology, 2013

Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

Millot GA et al.

Human Mutation, 2011

Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.

Ransburgh DJ et al.

Cancer Research, 2010

Characterization of BRCA1 ring finger variants of uncertain significance.

Sweet K et al.

Breast Cancer Research and Treatment, 2010

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.

Chang S et al.

The Journal of Clinical Investigation, 2009

The BARD1 Cys557Ser variant and breast cancer risk in Iceland.

Stacey SN et al.

Plos Medicine, 2006

Cancer risks in first degree relatives of BRCA1 mutation carriers: effects of mutation and proband disease status.

Gronwald J et al.

Journal of Medical Genetics, 2006

BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect.

Muller D et al.

Familial Cancer, 2004

BRCA1 gene in breast cancer.

Rosen EM et al.

Journal of Cellular Physiology, 2003

Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics.

Scott CL et al.

Human Genetics, 2003

BRCA1 supports XIST RNA concentration on the inactive X chromosome.

Ganesan S et al.

Cell, 2002

BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

Bergthorsson JT et al.

Journal of Medical Genetics, 2001

BRCA1 and prostate cancer.

Rosen EM et al.

Cancer Investigation, 2001

Functional characterization of BRCA1 and BRCA2: clues from their interacting proteins.

Sharan SK et al.

Journal of Mammary Gland Biology and Neoplasia, 1998

Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing.

Humphrey JS et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

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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."