Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.K171delFs
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BARD1

NM_000465.4:p.K171delFs

Associated Papers

Case Report: A case of Lynch syndrome-related glioblastoma with coexisting MSH2 splicing defect and MSH6 frameshift mutation.

Huang L et al.

Frontiers in Oncology, 2026

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.

Alenezi WM et al.

Genes, 2020

32726901 (PubMed )
Supplement: genes-11-00856-s001.zip › 2020.07.24_V11_Supplementary_Table_FINAL_no_references.xlsx › Table

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

Suszynska M et al.

Genes, 2020

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."