Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1257fs
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BRCA1

NM_007297.4:p.E1257fs

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

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

39061189 (PubMed )
Supplement: cancers-16-02547-s001.zip › cancers-3068792-supplementary.pdf

Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.

Pramanik R et al.

Ecancermedicalscience, 2024

The Mutational Landscape of Metastatic Castration-sensitive Prostate Cancer: The Spectrum Theory Revisited.

Deek MP et al.

European Urology, 2021

33419682 (PubMed )
Supplement: NIHMS1793749-supplement-20.xlsx › Sheet1
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