Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L246delFs
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BRCA1

NM_007294.4:p.L246delFs

Associated Papers

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Cătană A et al.

Biomedicines, 2023

Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Goidescu IG et al.

Cancers, 2023

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM3_ESM.xlsx › Supplementary_Table_S2

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.

Goidescu IG et al.

Clujul Medical (1957), 2018

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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."