Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.D500N
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BARD1

NM_000465.4:p.D500N

Associated Papers

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

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_S3B

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.

Weber-Lassalle N et al.

Breast Cancer Research : Bcr, 2019

31036035 (PubMed )
Supplement: 13058_2019_1137_MOESM1_ESM.docx
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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."