Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S1230fs
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BRCA2

NM_000059.4:p.S1230fs

Associated Papers

Older age should not be a barrier to testing for somatic variants in homologous recombination DNA repair-related genes in patients with high-grade serous ovarian carcinoma.

Pitiyarachchi O et al.

Translational Oncology, 2023

36805919 (PubMed )
Supplement: mmc1.docx

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_7.xlsx › Sheet1

Sirtuin inhibition is synthetic lethal with BRCA1 or BRCA2 deficiency.

Bajrami I et al.

Communications Biology, 2021

34750509 (PubMed )
Supplement: 42003_2021_2770_MOESM9_ESM.xlsx › Fig_S13

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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