(Q36190966)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22678057%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

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

1 reference

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4 February 2020

1 reference

17

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4 February 2020

15

Lino Tessarollo

1 reference

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4 February 2020

author name string

Kajal Biswas

1

1 reference

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4 February 2020

Ranabir Das

2

1 reference

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4 February 2020

Julie M Eggington

3

1 reference

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4 February 2020

Huanyu Qiao

4

1 reference

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4 February 2020

Susan L North

5

1 reference

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4 February 2020

Stacey Stauffer

6

1 reference

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4 February 2020

Sandra S Burkett

7

1 reference

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4 February 2020

Betty K Martin

8

1 reference

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4 February 2020

Eileen Southon

9

1 reference

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4 February 2020

Scott C Sizemore

10

1 reference

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4 February 2020

Dmitry Pruss

11

1 reference

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4 February 2020

Karla R Bowles

12

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4 February 2020

Benjamin B Roa

13

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4 February 2020

Neil Hunter

14

1 reference

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4 February 2020

Richard J Wenstrup

16

1 reference

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4 February 2020

Shyam K Sharan

18

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4 February 2020

publication date

7 June 2012

1 reference

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4 February 2020

published in

Human Molecular Genetics

1 reference

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4 February 2020

volume

21

1 reference

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4 February 2020

issue

18

1 reference

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4 February 2020

page(s)

3993-4006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22678057%20AND%20SRC:MED&resulttype=core&format=json

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

4 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Unraveling the mechanism of BRCA2 in homologous recombination

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Structural basis for recruitment of BRCA2 by PALB2

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

The contribution of BRCA1 and BRCA2 to ovarian cancer

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Assessment of functional effects of unclassified genetic variants

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Functional assays for classification of BRCA2 variants of uncertain significance

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Interactions between human BRCA2 protein and the meiosis-specific recombinase DMC1

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Meta-analysis of BRCA1 and BRCA2 penetrance

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Functional assays for BRCA1 and BRCA2.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

BRCA1 and BRCA2: the genetic testing and the current management options for mutation carriers

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Simple and highly efficient BAC recombineering using galK selection

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Systematic identification and analysis of exonic splicing silencers.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Coot: model-building tools for molecular graphics

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

UCSF Chimera--a visualization system for exploratory research and analysis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

A simple two-step, 'hit and fix' method to generate subtle mutations in BACs using short denatured PCR fragments

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

ESEfinder: A web resource to identify exonic splicing enhancers

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Breast cancer genetics: what we know and what we need

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

The mouse Spo11 gene is required for meiotic chromosome synapsis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

XRCC3 promotes homology-directed repair of DNA damage in mammalian cells

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Cells deleted for Brca2 COOH terminus exhibit hypersensitivity to gamma-radiation and premature senescence

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Involvement of Brca2 in DNA repair

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

BRCA phenocopies or ascertainment bias?

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Analysis of Fgf8 gene function in vertebrate development

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

Synaptonemal complex proteins: occurrence, epitope mapping and chromosome disjunction

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428152

THE GENETICS OF BREAST CANCER SUSCEPTIBILITY

22 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDS222

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDS222

The BRCA2 c.9004G>A (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDS222

Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2

21 January 2018

1 reference

12 December 2020

A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family

1 reference

12 December 2020

Embryonic stem cells deficient for Brca2 or Blm exhibit divergent genotoxic profiles that support opposing activities during homologous recombination

1 reference

12 December 2020

Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDS222

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22678057%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22678057%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

PubMed publication ID

22678057

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22678057%20AND%20SRC:MED&resulttype=core&format=json