Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1415fs
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BRCA1

NM_007294.4:p.E1415fs

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1

BRCA1 frameshift variants leading to extended incorrect protein C termini.

Nepomuceno TC et al.

Hgg Advances, 2023

37718511 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Combination ATR (ceralasertib) and PARP (olaparib) Inhibitor (CAPRI) Trial in Acquired PARP Inhibitor-Resistant Homologous Recombination-Deficient Ovarian Cancer.

Wethington SL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Small-scale variants and large deletions in BRCA1/2 genes in Slovak high-grade serous ovarian cancer.

Janíková K et al.

Pathology, Research and Practice, 2023

Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Bonazzi VF et al.

Genome Medicine, 2022

35012638 (PubMed )
Supplement: 13073_2021_990_MOESM2_ESM.xlsx › Supp_Table_7

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ARUP

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 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."