Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R1085fs
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BRCA1

NM_007294.4:p.R1085fs

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

Real-World Analysis of HRD Assay Variability in High-Grade Serous Ovarian Cancer: Impacts of BRCA1/2 Mutation Subtypes on HRD Assessment.

Scaglione GL et al.

Biomolecules, 2025

Homologous Recombination Deficiency (HRD) Scoring, by Means of Two Different Shallow Whole-Genome Sequencing Pipelines (sWGS), in Ovarian Cancer Patients: A Comparison with Myriad MyChoice Assay.

Scaglione GL et al.

International Journal of Molecular Sciences, 2023

Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.

Azzollini J et al.

Frontiers in Oncology, 2022

35463374 (PubMed )
Supplement: Table_2.xlsx › BRCA_PVs

Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Paik ES et al.

Cancer Science, 2021

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