Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.C1853insFs
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BRCA2

NM_000059.4:p.C1853insFs

Associated Papers

From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape.

Al Bader SB et al.

Biomedicines, 2025

41463058 (PubMed )
Supplement: biomedicines-13-03047-s001.zip › biomedicines-4005941-supplementary.pdf

Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.

Deugd R et al.

Diseases (basel, Switzerland), 2025

40710012 (PubMed )
Supplement: diseases-13-00222-s001.zip › diseases-3616972-supplementary.pdf

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.

Elfatih A et al.

European Journal of Human Genetics : Ejhg, 2024

39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1

Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.

AlHarbi M et al.

Oncotarget, 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-s005.xlsx › Chinese

Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.

Ozmen V et al.

Oncology Letters, 2022

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

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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."