Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.Q2655R
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BRCA2

NM_000059.4:p.Q2655R

Associated Papers

Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?

Schubart C et al.

International Journal of Cancer, 2025

40278800 (PubMed )
Supplement: IJC-157-964-s002.xlsx › Tabelle1

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

Variomes: a high recall search engine to support the curation of genomic variants.

Pasche E et al.

Bioinformatics (oxford, England), 2022

35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

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

A Bayesian framework for efficient and accurate variant prediction.

Qian D et al.

Plos One, 2018

30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants

The BRCA2 variant c.68-7 T>A is associated with breast cancer.

Møller P et al.

Hereditary Cancer in Clinical Practice, 2017

Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.

Miele E et al.

Biomarker Research, 2015

Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report.

Bodd TL et al.

Acta Paediatrica (oslo, Norway : 1992), 2010

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

Karchin R et al.

Cancer Informatics, 2008

19043619 (PubMed )
Supplement: cin-6-0203-s1.pdf
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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."