Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.E652fs
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BARD1

NM_000465.4:p.E652fs

Associated Papers

The Emerging Role of the Histone H2AK13/15 Ubiquitination: Mechanisms of Writing, Reading, and Erasing in DNA Damage Repair and Disease.

Shu Q et al.

Cells, 2025

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

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

Randall MP et al.

Biorxiv : the Preprint Server for Biology, 2023

36778420 (PubMed )
Supplement: media-1.pdf

Germline pathogenic variants in 786 neuroblastoma patients.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.

Shukla N et al.

Nature Communications, 2022

BRCA1-associated RING domain-1 (BARD1) loss and GBP1 expression enhance sensitivity to DNA damage in Ewing sarcoma.

Maurer LM et al.

Cancer Research Communications, 2022

Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Yoshida R et al.

Cancer Science, 2021

33421217 (PubMed )
Supplement: CAS-112-1310-s002.xlsx › Table_S1B

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

Genomic sequencing identifies secondary findings in a cohort of parent study participants.

Thompson ML et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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

De Brakeleer S et al.

Clinical Genetics, 2016

Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

Ratajska M et al.

Breast Cancer Research and Treatment, 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

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