Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S3291A
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BRCA2

NM_000059.4:p.S3291A

Associated Papers

(Single-stranded DNA) gaps in understanding BRCAness.

Schreuder A et al.

Trends in Genetics : Tig, 2024

BRCAness, DNA gaps, and gain and loss of PARP inhibitor-induced synthetic lethality.

Li X et al.

The Journal of Clinical Investigation, 2024

BRCA2 promotes genomic integrity and therapy resistance primarily through its role in homology-directed repair.

Lim PX et al.

Molecular Cell, 2024

Structural basis for stabilisation of the RAD51 nucleoprotein filament by BRCA2.

Appleby R et al.

Nature Communications, 2023

37919288 (PubMed )
Supplement: 41467_2023_42830_MOESM1_ESM.pdf

BRCA2 promotes genomic integrity and therapy resistance primarily through its role in homology-directed repair.

Lim PX et al.

Biorxiv : the Preprint Server for Biology, 2023

Replication gap suppression depends on the double-strand DNA binding activity of BRCA2.

Vugic D et al.

Nature Communications, 2023

DNA binding and RAD51 engagement by the BRCA2 C-terminus orchestrate DNA repair and replication fork preservation.

Kwon Y et al.

Nature Communications, 2023

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

Mechanisms of PARP1 inhibitor resistance and their implications for cancer treatment.

Jackson LM et al.

Nar Cancer, 2022

Revisiting the BRCA-pathway through the lens of replication gap suppression: "Gaps determine therapy response in BRCA mutant cancer".

Cantor SB

Dna Repair, 2021

Non-Recombinogenic Functions of Rad51, BRCA2, and Rad52 in DNA Damage Tolerance.

Prado F

Genes, 2021

Guardians of the Genome: BRCA2 and Its Partners.

Le HP et al.

Genes, 2021

Replication gaps are a key determinant of PARP inhibitor synthetic lethality with BRCA deficiency.

Cong K et al.

Molecular Cell, 2021

Intrinsic Disorder and Phosphorylation in BRCA2 Facilitate Tight Regulation of Multiple Conserved Binding Events.

Julien M et al.

Biomolecules, 2021

Understanding BRCA2 Function as a Tumor Suppressor Based on Domain-Specific Activities in DNA Damage Responses.

Andreassen PR et al.

Genes, 2021

Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules.

Jimenez-Sainz J et al.

Genes, 2021

Shaping the BRCAness mutational landscape by alternative double-strand break repair, replication stress and mitotic aberrancies.

Stok C et al.

Nucleic Acids Research, 2021

The phospho-dependent role of BRCA2 on the maintenance of chromosome integrity.

Ehlén Å et al.

Cell Cycle (georgetown, Tex.), 2021

Replication Gaps Underlie BRCA Deficiency and Therapy Response.

Panzarino NJ et al.

Cancer Research, 2021

Which Holds the Key to BRCAness: Inability to Repair the Break, Protect the Fork, or Prevent the Gap?

Canman CE

Cancer Research, 2021

L ARP7 Is a BRCA1 Ubiquitinase Substrate and Regulates Genome Stability and Tumorigenesis.

Zhang F et al.

Cell Reports, 2020

Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links.

Rickman KA et al.

Genes & Development, 2020

Roles of OB-Fold Proteins in Replication Stress.

Nguyen DD et al.

Frontiers in Cell and Developmental Biology, 2020

Advances in understanding DNA processing and protection at stalled replication forks.

Rickman K et al.

The Journal of Cell Biology, 2019

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

A minimal threshold of FANCJ helicase activity is required for its response to replication stress or double-strand break repair.

Bharti SK et al.

Nucleic Acids Research, 2018

Beyond interstrand crosslinks repair: contribution of FANCD2 and other Fanconi Anemia proteins to the replication of DNA.

Federico MB et al.

Mutation Research, 2018

PARPi focus the spotlight on replication fork protection in cancer.

Schlacher K

Nature Cell Biology, 2017

Replication fork reversal triggers fork degradation in BRCA2-defective cells.

Mijic S et al.

Nature Communications, 2017

BRCA2 suppresses replication stress-induced mitotic and G1 abnormalities through homologous recombination.

Feng W et al.

Nature Communications, 2017

BRCA2 functions: from DNA repair to replication fork stabilization.

Fradet-Turcotte A et al.

Endocrine-related Cancer, 2016

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination.

Wang AT et al.

Molecular Cell, 2015

Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins.

Prakash R et al.

Cold Spring Harbor Perspectives in Biology, 2015

Safeguarding genome stability: RASSF1A tumor suppressor regulates BRCA2 at stalled forks.

Pefani DE et al.

Cell Cycle (georgetown, Tex.), 2015

Molding BRCA2 function through its interacting partners.

Martinez JS et al.

Cell Cycle (georgetown, Tex.), 2015

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

Guidugli L et al.

Human Mutation, 2014

A distinct replication fork protection pathway connects Fanconi anemia tumor suppressors to RAD51-BRCA1/2.

Schlacher K et al.

Cancer Cell, 2012

BRCA1 and BRCA2: different roles in a common pathway of genome protection.

Roy R et al.

Nature Reviews. Cancer, 2011

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

Siaud N et al.

Plos Genetics, 2011

DNA repair: BRCA2 gets protective at forks.

Huddleston JE

Nature Reviews. Molecular Cell Biology, 2011

Double-strand break repair-independent role for BRCA2 in blocking stalled replication fork degradation by MRE11.

Schlacher K et al.

Cell, 2011

The carboxyl terminus of Brca2 links the disassembly of Rad51 complexes to mitotic entry.

Ayoub N et al.

Current Biology : Cb, 2009

A syngeneic variance library for functional annotation of human variation: application to BRCA2.

Hucl T et al.

Cancer Research, 2008

CDK-dependent phosphorylation of BRCA2 as a regulatory mechanism for recombinational repair.

Esashi F et al.

Nature, 2005

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