Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.C557S
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BARD1

NM_000465.4:p.C557S

Associated Papers

Contribution of BARD1 gene to male breast cancer- report of a family with different types of cancer.

Sarmadi A et al.

Current Problems in Cancer, 2025

Germline BARD1 Mutation in High-Risk Chinese Breast and Ovarian Cancer Patients.

Kwong A et al.

Cancers, 2025

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S7

Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.

de Amorim IFG et al.

Plos One, 2025

40146757 (PubMed )
Supplement: pone.0315487.s005.xlsx › All_variants

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

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

Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

Sierra-Díaz DC et al.

Human Genomics, 2024

38890714 (PubMed )
Supplement: 40246_2024_623_MOESM1_ESM.docx

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

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

BARD1 mystery: tumor suppressors are cancer susceptibility genes.

Hawsawi YM et al.

Bmc Cancer, 2022

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.

Çakır AY et al.

Turkish Journal of Medical Sciences, 2022

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

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

Śniadecki M et al.

Genes, 2020

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

Wu L et al.

Nature Communications, 2020

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

Velázquez C et al.

Cancers, 2020

32756499 (PubMed )
Supplement: cancers-12-02151-s001.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

Transcriptomic and Genomic Testing to Guide Individualized Treatment in Chemoresistant Gastric Cancer Case.

Moisseev A et al.

Biomedicines, 2020

32210001 (PubMed )
Supplement: biomedicines-08-00067-s001.zip › biomedicines-742411-supplementary › Supplementary_file_1.docx

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

da Costa E Silva Carvalho S et al.

Bmc Medical Genomics, 2020

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Urbina-Jara LK et al.

Genes, 2019

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

Recent advances of therapeutic targets based on the molecular signature in breast cancer: genetic mutations and implications for current treatment paradigms.

Lima ZS et al.

Journal of Hematology & Oncology, 2019

Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Shahi RB et al.

Bmc Cancer, 2019

30947698 (PubMed )
Supplement: 12885_2019_5494_MOESM10_ESM.docx

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

XPAT: a toolkit to conduct cross-platform association studies with heterogeneous sequencing datasets.

Yu Y et al.

Nucleic Acids Research, 2018

29294048 (PubMed )
Supplement: gkx1280_supp.zip › nar-01965-met-n-2017-File009.pdf

Dualistic Role of BARD1 in Cancer.

Cimmino F et al.

Genes, 2017

Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

Jara L et al.

Biological Research, 2017

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

DeLeonardis K et al.

The Breast Journal, 2017

BARD1 Gene Polymorphisms Confer Nephroblastoma Susceptibility.

Fu W et al.

Ebiomedicine, 2017

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Castellanos E et al.

Scientific Reports, 2017

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

Marzec KA et al.

Cancer Letters, 2016

Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.

De Brakeleer S et al.

Clinical Genetics, 2016

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

Irminger-Finger I et al.

The International Journal of Biochemistry & Cell Biology, 2016

The Association between GWAS-identified BARD1 Gene SNPs and Neuroblastoma Susceptibility in a Southern Chinese Population.

Zhang R et al.

International Journal of Medical Sciences, 2016

Genomic Biomarkers for Breast Cancer Risk.

Walsh MF et al.

Advances in Experimental Medicine and 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

Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.

Loke J et al.

Human Molecular Genetics, 2015

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.

Klonowska K et al.

Scientific Reports, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A07L-01A.domain

A steroid metabolizing gene variant in a polyfactorial model improves risk prediction in a high incidence breast cancer population.

Jupe ER et al.

Bba Clinical, 2014

26673457 (PubMed )
Supplement: mmc1.pdf

The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.

Mauer CB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms.

Tenedini E et al.

Leukemia, 2014

Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.

Tavtigian SV et al.

Biomarkers in Medicine, 2014

The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population.

Gonzalez-Hormazabal P et al.

Molecular Biology Reports, 2012

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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."