Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.R406*
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BARD1

NM_000465.4:p.R406*

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › PVs

Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.

Vietri MT et al.

International Journal of Molecular Sciences, 2025

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

PBMCs as Tool for Identification of Novel Immunotherapy Biomarkers in Lung Cancer.

De Rosa C et al.

Biomedicines, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

The Role of Germline Mutations in Thoracic Malignancies: Between Myth and Reality.

Farinea G et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2023

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.

Walsh T et al.

Npj Breast Cancer, 2021

33479248 (PubMed )
Supplement: 41523_2020_214_MOESM1_ESM.pdf

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.

Qin N et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

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

Novel Germline Mutations in DNA Damage Repair in Patients with Malignant Pleural Mesotheliomas.

Guo R et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2020

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf

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."