Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.Q564*
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BARD1

NM_000465.4:p.Q564*

Associated Papers

Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.

Iyevleva AG et al.

International Journal of Molecular Sciences, 2025

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

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Witt D et al.

Breast (edinburgh, Scotland), 2025

40403485 (PubMed )
Supplement: mmc2.xlsx › Full_information

Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.

Ul Haq S et al.

Hgg Advances, 2025

40308030 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

Germline variants of homology-directed repair or mismatch repair genes in cervical cancer.

Kokemüller L et al.

International Journal of Cancer, 2025

High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.

Shumilova S et al.

International Journal of Molecular Sciences, 2024

Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.

Nagy P et al.

International Journal of Molecular Sciences, 2024

Germline Genetic Susceptibility Testing Among Emirati Nationals at Risk for Hereditary Breast and Ovarian Cancer Syndrome.

Rawashdeh RR et al.

Jco Global Oncology, 2024

A comprehensive analysis of germline predisposition to early-onset ovarian cancer.

Horackova K et al.

Scientific Reports, 2024

39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_2

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.

Randall MP et al.

Journal of the National Cancer Institute, 2024

Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.

Kim J et al.

Journal of the National Cancer Institute, 2024

Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.

Bilyalov A et al.

Cancers, 2023

38201513 (PubMed )
Supplement: cancers-16-00085-s001.zip › Table_S1.xlsx › table_S1

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2b._All_genes

BRCA-deficient metastatic prostate cancer has an adverse prognosis and distinct genomic phenotype.

Fettke H et al.

Ebiomedicine, 2023

37549632 (PubMed )
Supplement: mmc1.xlsx › ST8

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Cătană A et al.

Biomedicines, 2023

Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.

Nacer DF et al.

Genome Medicine, 2023

37060015 (PubMed )
Supplement: 13073_2023_1177_MOESM2_ESM.xlsx › Table_S7

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.

Randall MP et al.

Biorxiv : the Preprint Server for Biology, 2023

Germline pathogenic variants in 786 neuroblastoma patients.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

BARD1 mystery: tumor suppressors are cancer susceptibility genes.

Hawsawi YM et al.

Bmc Cancer, 2022

The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer.

Russi M et al.

Pharmacology & Therapeutics, 2022

Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?

Stempa K et al.

Cancers, 2021

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Structural insight into BRCA1-BARD1 complex recruitment to damaged chromatin.

Dai L et al.

Molecular Cell, 2021

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s006.xlsx › Sheet2

Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.

Fransson S et al.

Scientific Reports, 2020

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

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

Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations.

Suszynska M et al.

Genes, 2020

Pharmacogenomics, biomarker network, and allele frequencies in colorectal cancer.

López-Cortés A et al.

The Pharmacogenomics Journal, 2020

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population.

AlHarthi FS et al.

Npj Genomic Medicine, 2020

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Rosenthal SH et al.

Biomed Research International, 2020

The spectrum of mutations predisposing to familial breast cancer in Poland.

Cybulski C et al.

International Journal of Cancer, 2019

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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."