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

scientific article

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1093/HMG/DDS222
P932PMC publication ID3428152
P698PubMed publication ID22678057
P5875ResearchGate publication ID225283060

P50authorR. Andrew ByrdQ58325964
Lino TessarolloQ67472644
P2093author name stringRichard J Wenstrup
Neil Hunter
Ranabir Das
Shyam K Sharan
Eileen Southon
Stacey Stauffer
Karla R Bowles
Kajal Biswas
Benjamin B Roa
Sandra S Burkett
Betty K Martin
Huanyu Qiao
Dmitry Pruss
Susan L North
Julie M Eggington
Scott C Sizemore
P2860cites workInteractions between human BRCA2 protein and the meiosis-specific recombinase DMC1Q24307601
Structural basis for recruitment of BRCA2 by PALB2Q24315745
XRCC3 promotes homology-directed repair of DNA damage in mammalian cellsQ24597771
Meta-analysis of BRCA1 and BRCA2 penetranceQ24654786
Simple and highly efficient BAC recombineering using galK selectionQ24794075
BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structureQ27639649
Coot: model-building tools for molecular graphicsQ27860505
UCSF Chimera--a visualization system for exploratory research and analysisQ27860666
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assayQ28118199
Unraveling the mechanism of BRCA2 in homologous recombinationQ28242443
Cells deleted for Brca2 COOH terminus exhibit hypersensitivity to gamma-radiation and premature senescenceQ28509372
Involvement of Brca2 in DNA repairQ28589746
ESEfinder: A web resource to identify exonic splicing enhancersQ29616126
The mouse Spo11 gene is required for meiotic chromosome synapsisQ29618404
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage ConsortiumQ29619206
Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.Q30373569
Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2Q80140639
Embryonic stem cells deficient for Brca2 or Blm exhibit divergent genotoxic profiles that support opposing activities during homologous recombinationQ80334385
Systematic identification and analysis of exonic splicing silencers.Q33210154
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancersQ33249150
Genetic evidence and integration of various data sources for classifying uncertain variants into a single modelQ33379396
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an exampleQ33475933
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2Q33910123
Functional assays for classification of BRCA2 variants of uncertain significanceQ34116524
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortalityQ34135443
Breast cancer genetics: what we know and what we needQ34236139
Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.Q34541051
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.Q34581303
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test resultsQ34788325
A simple two-step, 'hit and fix' method to generate subtle mutations in BACs using short denatured PCR fragmentsQ35222962
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).Q35622910
Functional assays for BRCA1 and BRCA2.Q35775886
BRCA1 and BRCA2: the genetic testing and the current management options for mutation carriersQ36335840
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variantQ36408445
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genesQ36492194
Breast cancer risk associated with BRCA1 and BRCA2 in diverse populationsQ37011738
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2Q37092814
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significanceQ37117082
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family historyQ37205554
Assessment of functional effects of unclassified genetic variantsQ37308298
Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutationsQ37363083
The contribution of BRCA1 and BRCA2 to ovarian cancerQ37453854
Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.Q41985080
BRCA phenocopies or ascertainment bias?Q43232466
Analysis of Fgf8 gene function in vertebrate developmentQ46135598
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individualsQ46796026
Synaptonemal complex proteins: occurrence, epitope mapping and chromosome disjunctionQ48078764
Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.Q52582443
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.Q52599103
THE GENETICS OF BREAST CANCER SUSCEPTIBILITYQ57272243
Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab InvestigatorsQ57306048
The BRCA2 c.9004G>A (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descentQ58325168
A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer familyQ74427899
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populationsQ78105304
P433issue18
P921main subjectembryonic stem cellQ1151519
P304page(s)3993-4006
P577publication date2012-06-07
P1433published inHuman Molecular GeneticsQ2720965
P1476titleFunctional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay
P478volume21

Reverse relations

cites work (P2860)
Q48128057A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors
Q41084246Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption.
Q50210067Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches
Q38914005BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Q34518167BRCA2 regulates DMC1-mediated recombination through the BRC repeats.
Q94562670Bypass of premature stop codons and generation of functional BRCA2 by exon skipping
Q53101648Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.
Q51062318Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
Q104466347Epidemiological and ES cell-based Functional Evaluation of BRCA2 Variants Identified in Families with Breast Cancer
Q41499215Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes
Q37715826Functional assays for analysis of variants of uncertain significance in BRCA2.
Q64080586Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer
Q92785287HSF2BP negatively regulates homologous recombination in DNA interstrand crosslink repair
Q38925408Hereditary breast and ovarian cancer: new genes in confined pathways
Q28085364Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins
Q27308072Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2
Q28085603Molding BRCA2 function through its interacting partners
Q53310020Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
Q38685850Overall Survival and Clinical Characteristics of BRCA-Associated Cholangiocarcinoma: A Multicenter Retrospective Study
Q55280273Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.
Q36538025Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland
Q37011944Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil
Q89486038The functional impact of variants of uncertain significance in BRCA2
Q89014443The impact of variant classification on the clinical management of hereditary cancer syndromes
Q33820594Two decades after BRCA: setting paradigms in personalized cancer care and prevention

Search more.