Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.P747insFs
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BRCA1

NM_007294.4:p.P747insFs

Associated Papers

Different association of gBRCA1 and gBRCA2 variants with HER2-low status in invasive breast cancer: findings from a Ukrainian study.

Livshun S et al.

Scientific Reports, 2025

Moderate-Low Risk Breast Cancer Gene Expression in a Romanian Population.

Goidescu IG et al.

International Journal of Molecular Sciences, 2025

Long-Term Survival in BRCA1 Mutant Advanced Ovarian Cancer: Unveiling the Impact of Olaparib.

Afrăsânie VA et al.

Diagnostics (basel, Switzerland), 2024

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

Goidescu IG et al.

Cancers, 2023

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s006.xlsx › BRCA1

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

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

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

Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.

Zanella I et al.

Experimental and Molecular Pathology, 2017

Complete BRCA mutation screening in breast and ovarian cancer predisposition families from a North-Eastern Romanian population.

Negura L et al.

Familial Cancer, 2010

The influence of reproductive factors on breast cancer risk in women with pathogenic mutations.

Gabriel Goidescu I et al.

Journal of B.u.on. : Official Journal of the Balkan Union of Oncology, 0

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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."