Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S3094*
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BRCA2

NM_000059.4:p.S3094*

Associated Papers

Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.

Eberth S et al.

Bmc Research Notes, 2025

39955561 (PubMed )
Supplement: 13104_2025_7140_MOESM3_ESM.xlsx › snv_indel_maf_less20_Project_bc

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4A

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

Molecular Characterization and Subtyping of Breast Cancer Cell Lines Provide Novel Insights into Cancer Relevant Genes.

Pommerenke C et al.

Cells, 2024

38391914 (PubMed )
Supplement: cells-13-00301-s001.zip › Table_S2.xlsx › Mutations

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1

Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.

Ji G et al.

Annals of Translational Medicine, 2021

Individualized genetic network analysis reveals new therapeutic vulnerabilities in 6,700 cancer genomes.

Liu C et al.

Plos Computational Biology, 2020

FANCD2 limits replication stress and genome instability in cells lacking BRCA2.

Michl J et al.

Nature Structural & Molecular Biology, 2016

27322732 (PubMed )
Supplement: NIHMS69022-supplement-Supplementary_Tables.pdf

A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing.

Ellison G et al.

Bmc Clinical Pathology, 2015

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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."