Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.F2058I
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BRCA2

NM_000059.4:p.F2058I

Associated Papers

Molecular Features and Actionable Gene Targets of Testicular Germ Cell Tumors in a Real-World Setting.

Morales-Grimany R et al.

International Journal of Molecular Sciences, 2025

ATR inhibition using gartisertib enhances cell death and synergises with temozolomide and radiation in patient-derived glioblastoma cell lines.

Lozinski M et al.

Oncotarget, 2024

38227740 (PubMed )
Supplement: oncotarget-15-28551-s001.pdf

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2

Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.

Zanti M et al.

Frontiers in Genetics, 2023

37790698 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Thomassen M et al.

Human Mutation, 2022

35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T3

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S16

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

Ernst C et al.

Bmc Medical Genomics, 2018

29580235 (PubMed )
Supplement: 12920_2018_353_MOESM1_ESM.xlsx › Classified_Variant_Set

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Harrison SM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation

Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

Loughrey M et al.

Pathology, 2008

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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."