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

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

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.

Alenezi WM et al.

Genes, 2020

32726901 (PubMed )
Supplement: genes-11-00856-s001.zip › 2020.07.24_V11_Supplementary_Table_FINAL_no_references.xlsx › Table

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

Functional analysis of clinical BARD1 germline variants.

Toh MR et al.

Cold Spring Harbor Molecular Case Studies, 2019

31371347 (PubMed )
Supplement: supp_mcs.a004093_Supplemental_Materials.docx

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

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

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."