Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.W31C
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BRCA2

NM_000059.4:p.W31C

Associated Papers

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

Mutation Spectrum Analysis of BRCA1/2 Genes for Hereditary Breast and Ovarian Cancer in the Indian Population.

Lila K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

39733403 (PubMed )
Supplement: APJCP-25-4145-s001.xlsx › Supplementry_Table_2

All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.

Holm LL et al.

Nucleic Acids Research, 2024

38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB

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

Pentagalloylglucose disrupts the PALB2-BRCA2 interaction and potentiates tumor sensitivity to PARP inhibitor and radiotherapy.

Zeng J et al.

Cancer Letters, 2022

Dipeptidyl peptidase 9 triggers BRCA2 degradation and promotes DNA damage repair.

Bolgi O et al.

Embo Reports, 2022

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

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S3

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

Guardians of the Genome: BRCA2 and Its Partners.

Le HP et al.

Genes, 2021

A novel somatic BRCA2 point mutation in a metastatic pancreatic cancer patient: a case report.

Wang D et al.

Bmc Medical Genomics, 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

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

Ikegami M et al.

Nature Communications, 2020

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

Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Young EL et al.

Bmc Cancer, 2018

29945567 (PubMed )
Supplement: 12885_2018_4573_MOESM1_ESM.xlsx › Supplemental_Table_2

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

Structural basis for recruitment of BRCA2 by PALB2.

Oliver AW et al.

Embo Reports, 2017

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

Shimelis H et al.

Cancer Research, 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

Molding BRCA2 function through its interacting partners.

Martinez JS et al.

Cell Cycle (georgetown, Tex.), 2015

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

Compensatory functions and interdependency of the DNA-binding domain of BRCA2 with the BRCA1-PALB2-BRCA2 complex.

Al Abo M et al.

Cancer Research, 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

Plasticity of BRCA2 function in homologous recombination: genetic interactions of the PALB2 and DNA binding domains.

Siaud N et al.

Plos Genetics, 2011

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

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

Sanz DJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

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."