Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K1638E
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BRCA2

NM_000059.4:p.K1638E

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

Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes.

Riaz N et al.

Nature Communications, 2017

29021619 (PubMed )
Supplement: 41467_2017_921_MOESM5_ESM.xlsx › Sheet1

Association between targeted somatic mutation (TSM) signatures and HGS-OvCa progression.

Lindley RA et al.

Cancer Medicine, 2016

27485054 (PubMed )
Supplement: CAM4-5-2629-s002.pdf

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG et al.

Genome Biology, 2014

25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2

Differing clinical impact of BRCA1 and BRCA2 mutations in serous ovarian cancer.

Liu G et al.

Pharmacogenomics, 2012

Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer.

Yang D et al.

Jama, 2011

Integrated genomic analyses of ovarian carcinoma.

Unknown Author

Nature, 2011

21720365 (PubMed )
Supplement: NIHMS313090-supplement-8.pdf
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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."