Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.I946fs
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BRCA1

NM_007294.4:p.I946fs

Associated Papers

Quantifying rate-limiting genetic variation in breast and ovarian tumourigenesis.

Houlahan KE et al.

Ebiomedicine, 2026

41724111 (PubMed )
Supplement: mmc6.xlsx › Sheet3

Luminal breast epithelial cells of BRCA1 or BRCA2 mutation carriers and noncarriers harbor common breast cancer copy number alterations.

Williams MJ et al.

Nature Genetics, 2024

39567747 (PubMed )
Supplement: 41588_2024_1988_MOESM4_ESM.xlsx › TableS1

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

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.

Stella S et al.

Cancer Management and Research, 2022

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.

Figlioli G et al.

Cancers, 2021

33573335 (PubMed )
Supplement: cancers-13-00532-s001.zip › cancers-1044931-supplementary.xlsx › Suppl_Table

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

Schenkel LC et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

Wong-Brown MW et al.

Breast Cancer Research and Treatment, 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."