(Q26829268)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

A guide for functional analysis of BRCA1 variants of uncertain significance (English)

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Sandrine Caputo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Melissa A Brown

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Michelle Webb

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Alvaro Galli

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Rita D Brandão

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Alvaro Monteiro

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

14

Fergus J Couch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

9

Thomas v O Hansen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

12

Marinus J Blok

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

7

Etienne Rouleau

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

13

Aneliya Velkova

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

4

Maaike P G Vreeswijk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

8

Susan L Neuhausen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1

Gaël A Millot

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

author name string

ENIGMA Consortium Functional Assay Working Group

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

language of work or name

1 reference

16 July 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

volume

33

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

issue

11

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

page(s)

1526-1537

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

6 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=3470782

Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

The BRCT Domain Is a Phospho-Protein Binding Domain

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

The BRCA1/BARD1 heterodimer assembles polyubiquitin chains through an unconventional linkage involving lysine residue K6 of ubiquitin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Cell cycle-dependent colocalization of BARD1 and BRCA1 proteins in discrete nuclear domains

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Structural consequences of a cancer-causing BRCA1-BRCT missense mutation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Structure of a BRCA1-BARD1 heterodimeric RING-RING complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Nuclear-cytoplasmic shuttling of BARD1 contributes to its proapoptotic activity and is regulated by dimerization with BRCA1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Phosphopeptide Binding Specificities of BRCA1 COOH-terminal (BRCT) Domains

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Autoubiquitination of the BRCA1*BARD1 RING ubiquitin ligase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

The BRCA1/BARD1 heterodimer, a tumor suppressor complex with ubiquitin E3 ligase activity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Genetic analysis of BRCA1 function in a defined tumor cell line

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Isolation and characterisation of the NBR2 gene which lies head to head with the human BRCA1 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Association of BRCA1 with Rad51 in mitotic and meiotic cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

BRCA1 is a 220-kDa nuclear phosphoprotein that is expressed and phosphorylated in a cell cycle-dependent manner

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Phosphorylated BRCA1 is predominantly located in the nucleus and mitochondria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

In search of the tumour-suppressor functions of BRCA1 and BRCA2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Identification of the breast cancer susceptibility gene BRCA2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Correlation of two-hybrid affinity data with in vitro measurements

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

BRCA1 tumour suppression occurs via heterochromatin-mediated silencing.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Functional differences among BRCA1 missense mutations in the control of centrosome duplication

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Mutations in the BRCT binding site of BRCA1 result in hyper-recombination

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Down-regulation of BRCA1 expression by miR-146a and miR-146b-5p in triple negative sporadic breast cancers.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

DNA damage-induced cytotoxicity is dissociated from BRCA1's DNA repair function but is dependent on its cytosolic accumulation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Negative feedback loop of BRCA1-BARD1 ubiquitin ligase on estrogen receptor alpha stability and activity antagonized by cancer-associated isoform of BARD1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

E3 ligase activity of BRCA1 is not essential for mammalian cell viability or homology-directed repair of double-strand DNA breaks

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Dynamic interactions between the promoter and terminator regions of the mammalian BRCA1 gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Yeast screens identify the RNA polymerase II CTD and SPT5 as relevant targets of BRCA1 interaction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Regulation of BRCA1 messenger RNA stability in human epithelial cell lines and during cell cycle progression

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Estrogen receptor alpha is a putative substrate for the BRCA1 ubiquitin ligase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Functional implications of BRCA1 for early detection, prevention, and treatment of breast cancer.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Functional assays for BRCA1 and BRCA2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Accurate prediction of BRCA1 and BRCA2 heterozygous genotype using expression profiling after induced DNA damage

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Prevalence of BRCA mutations and founder effect in high-risk Hispanic families

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

BRCA1/BARD1 ubiquitinate phosphorylated RNA polymerase II.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Classification of BRCA1 missense variants of unknown clinical significance

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Yeast-based assays for detection and characterization of mutations in BRCA1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

The BRCA1 RING and BRCT domains cooperate in targeting BRCA1 to ionizing radiation-induced nuclear foci

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

BRCA1-dependent ubiquitination of gamma-tubulin regulates centrosome number

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

BRCA1 and BRCA2: 1994 and beyond

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Understanding germ-line mutations in BRCA1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Structure of the BRCT Repeats of BRCA1 Bound to a BACH1 Phosphopeptide

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

DNA damage induces p53-dependent BRCA1 nuclear export

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Gene expression profiling after radiation-induced DNA damage is strongly predictive of BRCA1 mutation carrier status

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

BRCA2 T2722R is a deleterious allele that causes exon skipping

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombination.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

A somatic mutation in the 5'UTR of BRCA1 gene in sporadic breast cancer causes down-modulation of translation efficiency.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Tumor suppressor p53 is required to modulate BRCA1 expression

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Identification of a functional nuclear export sequence in BRCA1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

A nuclear function for the tumor suppressor BRCA1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Characterization of a breast cancer cell line derived from a germ-line BRCA1 mutation carrier.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Evidence for a transcriptional activation function of BRCA1 C-terminal region

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Genetic analysis of breast cancer in the cancer and steroid hormone study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Predicting mutation outcome from early stochastic variation in genetic interaction partners.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Identification of a novel transcriptional repressor element located in the first intron of the human BRCA1 gene

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

Complex regulation of the BRCA1 gene.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470782

BRCA1 expression restores radiation resistance in BRCA1-defective cancer cells through enhancement of transcription-coupled DNA repair

31 May 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

The microRNA.org resource: targets and expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Basal repression of BRCA1 by multiple E2Fs and pocket proteins at adjacent E2F sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

A functional variant in the 3'-UTR of angiopoietin-1 might reduce stroke risk by interfering with the binding efficiency of microRNA 211.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

BRCA1 RING function is essential for tumor suppression but dispensable for therapy resistance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

oPOSSUM: identification of over-represented transcription factor binding sites in co-expressed genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Vienna RNA secondary structure server

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Transterm: a database to aid the analysis of regulatory sequences in mRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Evaluation of regulatory potential and conservation scores for detecting cis-regulatory modules in aligned mammalian genome sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

GeneSplicer: a new computational method for splice site prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Re-engineering a split-GFP reassembly screen to examine RING-domain interactions between BARD1 and BRCA1 mutants observed in cancer patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Posttranscriptional regulation of the breast cancer susceptibility gene BRCA1 by the RNA binding protein HuR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

A targeted disruption of the murine Brca1 gene causes gamma-irradiation hypersensitivity and genetic instability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

High-resolution human core-promoter prediction with CoreBoost_HM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Understanding the functions of BRCA1 in the DNA-damage response.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Mfold web server for nucleic acid folding and hybridization prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Molecular characterization and cancer risk associated withBRCA1 andBRCA2 splice site variants identified in multiple-case breast cancer families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Transcriptional activation by BRCA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22150

Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing

21 January 2018

1 reference

12 December 2020

Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation

1 reference

12 December 2020

Epigenetic tumor suppression by BRCA1

1 reference

12 December 2020

Location of BRCA1 in human breast and ovarian cancer cells

1 reference

12 December 2020

Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core

1 reference

12 December 2020

Identification of two evolutionarily conserved and functional regulatory elements in intron 2 of the human BRCA1 gene

1 reference

12 December 2020

Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry

1 reference

12 December 2020

Breast cancer information on the web

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22150

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

22753008

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753008%20AND%20SRC:MED&resulttype=core&format=json