Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.L667_L668Splc
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BARD1

NM_000465.4:p.L667_L668Splc

Associated Papers

Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.

Marabelli M et al.

Cancers, 2025

40361347 (PubMed )
Supplement: cancers-17-01419-s001.zip › Table_S6.xlsx › Foglio1

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

Suszynska M et al.

Genes, 2020

32679805 (PubMed )
Supplement: genes-11-00798-s001.zip › Supplementary_Figure_and_Tables_Suszynska_et_al_Genes › Supplementary_Table_S2_Suszynska_et_al_Genes.xlsx › Table_S2

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

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification.

Walker LC et al.

Frontiers in Genetics, 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."