Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.A3122P
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BRCA2

NM_000059.4:p.A3122P

Associated Papers

Identification and Computational Analysis of BRCA2 Variants in Mexican Women from Jalisco, Mexico, with Breast and Ovarian Cancer.

García-Verdín PM et al.

Medical Sciences (basel, Switzerland), 2025

Saturation genome editing-based clinical classification of BRCA2 variants.

Sahu S et al.

Nature, 2025

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4C

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › BRCA2

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA2

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.

Richardson ME et al.

American Journal of Human Genetics, 2021

Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.

Barbosa A et al.

Cancers, 2020

Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects.

Peixoto A et al.

Frontiers in Oncology, 2020

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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."