Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.S761N
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BARD1

NM_000465.4:p.S761N

Associated Papers

Computational studies on the functional and structural impact of pathogenic mutations in enzymes.

Dissanayake UC et al.

Protein Science : a Publication of the Protein Society, 2025

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

Li W et al.

Molecular Carcinogenesis, 2025

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.

Scheiter A et al.

Journal of Personalized Medicine, 2022

36013219 (PubMed )
Supplement: jpm-12-01270-s001.zip › jpm-1799777-supplementary.pdf

Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.

Benito-Sánchez B et al.

Scientific Reports, 2022

Dysregulation of the centrosome induced by BRCA1 deficiency contributes to tissue-specific carcinogenesis.

Yoshino Y et al.

Cancer Science, 2021

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Scheipl S et al.

Therapeutic Advances in Medical Oncology, 2021

34367342 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359211029125.xlsx › FMI_Archer

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

Wu L et al.

Nature Communications, 2020

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

Alenezi WM et al.

Genes, 2020

32726901 (PubMed )
Supplement: genes-11-00856-s001.zip › 2020.07.24_V11_Supplementary_Table_FINAL_no_references.xlsx › Table

The Function of BARD1 in Centrosome Regulation in Cooperation with BRCA1/OLA1/RACK1.

Otsuka K et al.

Genes, 2020

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

Functional analysis of clinical BARD1 germline variants.

Toh MR et al.

Cold Spring Harbor Molecular Case Studies, 2019

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5

BRCA1-Interacting Protein OLA1 Requires Interaction with BARD1 to Regulate Centrosome Number.

Yoshino Y et al.

Molecular Cancer Research : Mcr, 2018

Biophysical evaluation to categorize pathogenicity of cancer-predisposing mutations identified in the BARD1 BRCT domain.

Choudhary RK et al.

Rsc Advances, 2018

Multigene testing of moderate-risk genes: be mindful of the missense.

Young EL et al.

Journal of Medical Genetics, 2016

26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf

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

Irminger-Finger I et al.

The International Journal of Biochemistry & Cell Biology, 2016

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

Jóri B et al.

Oncotarget, 2015

26517685 (PubMed )
Supplement: oncotarget-06-41108-s004.xlsx › Suppl._Table_3_-_all_variants

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

Lee C et al.

Human Mutation, 2015

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.

Kiiski JI et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

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

Thermodynamic study of the BRCT domain of BARD1 and its interaction with the -pSER-X-X-Phe- motif-containing BRIP1 peptide.

Thanassoulas A et al.

Biochimica Et Biophysica Acta, 2010

Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

De Brakeleer S et al.

Human Mutation, 2010

BARD1 variants are not associated with breast cancer risk in Australian familial breast cancer.

Gorringe KL et al.

Breast Cancer Research and Treatment, 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

Crystal structure of the BARD1 BRCT domains.

Birrane G et al.

Biochemistry, 2007

Is there more to BARD1 than BRCA1?

Irminger-Finger I et al.

Nature Reviews. Cancer, 2006

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

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

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

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs

[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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