Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.G25R
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BRCA2

NM_000059.4:p.G25R

Associated Papers

Insights from three decades of BRCA1/2 modeling in mice.

Darnold JS et al.

Nature Genetics, 2026

Biallelic BRCA2 variants induce premature ovarian insufficiency by impaired meiotic homologous recombination.

Wu X et al.

Communications Biology, 2025

Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects.

Bose M et al.

The Journal of Clinical Investigation, 2025

Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service.

Fiorentino F et al.

Familial Cancer, 2024

The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.

Alvaro-Aranda L et al.

Nucleic Acids Research, 2024

Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant.

Mishra AP et al.

Cell Death & Disease, 2023

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

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Thomassen M et al.

Human Mutation, 2022

35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T8

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Aljarf R et al.

Scientific Reports, 2022

35729312 (PubMed )
Supplement: 41598_2022_13508_MOESM2_ESM.xlsx › Sheet1

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

Genomic mutation features identify distinct BRCA-associated mutation characteristics in endometrioid carcinoma and endometrioid ovarian carcinoma.

Cao C et al.

Aging, 2021

34837690 (PubMed )
Supplement: aging-13-203710-s004.xlsx › Sheet1

BRCA2 associates with MCM10 to suppress PRIMPOL-mediated repriming and single-stranded gap formation after DNA damage.

Kang Z et al.

Nature Communications, 2021

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Biswas K et al.

Npj Genomic Medicine, 2020

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.

Monteiro AN et al.

Journal of Medical Genetics, 2020

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

Ikegami M et al.

Nature Communications, 2020

32444794 (PubMed )
Supplement: 41467_2020_16141_MOESM7_ESM.xlsx › MANO-B_for_244_variants

The functional impact of variants of uncertain significance in BRCA2.

Mesman RLS et al.

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

Evidence of Intertissue Differences in the DNA Damage Response and the Pro-oncogenic Role of NF-κB in Mice with Disengaged BRCA1-PALB2 Interaction.

Mahdi AH et al.

Cancer Research, 2018

PALB2 (partner and localizer of BRCA2).

Hanenberg H et al.

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2018

A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors.

Shailani A et al.

Medical Oncology (northwood, London, England), 2018

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.

Caleca L et al.

Frontiers in Oncology, 2018

Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.

Foo TK et al.

Oncogene, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2.

Hartford SA et al.

Plos Genetics, 2016

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

An integrated in silico approach to analyze the involvement of single amino acid polymorphisms in FANCD1/BRCA2-PALB2 and FANCD1/BRCA2-RAD51 complex.

Doss CG et al.

Cell Biochemistry and Biophysics, 2014

Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.

Balabanski L et al.

Molecular and Clinical Oncology, 2014

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

Guidugli L et al.

Human Mutation, 2014

Polymorphism of UBC9 gene encoding the SUMO-E2-conjugating enzyme and breast cancer risk.

Wozniak K et al.

Pathology Oncology Research : Por, 2014

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

Biswas K et al.

Human Molecular Genetics, 2012

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

Muller D et al.

Bmc Medical Genetics, 2011

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.

Xia B et al.

Molecular Cell, 2006

BRCA gene structure and function in tumor suppression: a repair-centric perspective.

Murphy CG et al.

Cancer Journal (sudbury, Mass.), 0

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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."