Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.T3033I
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BRCA2

NM_000059.4:p.T3033I

Associated Papers

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S5A

The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.

Yamazawa K et al.

Cancer Science, 2023

37067535 (PubMed )
Supplement: CAS-114-2993-s001.pdf

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Iversen ES et al.

Npj Genomic Medicine, 2022

35665744 (PubMed )
Supplement: 41525_2022_302_MOESM3_ESM.xlsx › BRCA2_inSilico_PCs___AGVGD

High-throughput functional evaluation of BRCA2 variants of unknown significance.

Ikegami M et al.

Nature Communications, 2020

32444794 (PubMed )
Supplement: 41467_2020_16141_MOESM6_ESM.xlsx › Information_of_244_variants

Hereditary breast cancer; Genetic penetrance and current status with BRCA.

Mahdavi M et al.

Journal of Cellular Physiology, 2019

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Hart SN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.

Guidugli L et al.

American Journal of Human Genetics, 2018

Understanding of BRCA VUS genetic results by breast cancer specialists.

Eccles BK et al.

Bmc Cancer, 2015

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.

Eccles DM et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2015

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Couch FJ et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

Functional assays for analysis of variants of uncertain significance in BRCA2.

Guidugli L et al.

Human Mutation, 2014

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

Guidugli L et al.

Cancer Research, 2013

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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."