(Q37531346)

20 August 2017

Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing (English)

1 reference

20 August 2017

4

Amanda E Toland

1 reference

20 August 2017

William I Towler

1

1 reference

20 August 2017

Jie Zhang

2

1 reference

20 August 2017

Derek J R Ransburgh

3

1 reference

20 August 2017

Chikashi Ishioka

5

1 reference

20 August 2017

Natsuko Chiba

6

1 reference

20 August 2017

Jeffrey D Parvin

7

1 reference

20 August 2017

12 December 2012

1 reference

20 August 2017

1 reference

20 August 2017

34

1 reference

20 August 2017

3

1 reference

20 August 2017

439-445

1 reference

A guide for functional analysis of BRCA1 variants of uncertain significance

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

A DNA damage response screen identifies RHINO, a 9-1-1 and TopBP1 interacting protein required for ATR signaling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

Identifying the effects of BRCA1 mutations on homologous recombination using cells that express endogenous wild-type BRCA1.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

Characterization of BRCA1 ring finger variants of uncertain significance

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

Rapid recruitment of BRCA1 to DNA double-strand breaks is dependent on its association with Ku80

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

Genetic steps of mammalian homologous repair with distinct mutagenic consequences

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

Ku DNA end-binding protein modulates homologous repair of double-strand breaks in mammalian cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

BRCA2 is required for homology-directed repair of chromosomal breaks

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

No evidence of false reassurance among women with an inconclusive BRCA1/2 genetic test result

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3906639

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

2 September 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22251

BRCA1Mutations in a Population-Based Sample of Young Women with Breast Cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22251

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22251

Clinical Characteristics Affect the Impact of an Uninformative DNA Test Result: The Course of Worry and Distress Experienced by Women Who Apply for Genetic Testing for Breast Cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22251

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23161852

12 December 2020

inferred from PubMed ID database lookup

Classification of missense variants of unknown significance inBRCA1based on clinical and tumor information

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23161852

12 December 2020

inferred from PubMed ID database lookup

Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23161852

12 December 2020

inferred from PubMed ID database lookup

Identifiers

1 reference

https://api.fatcat.wiki/v0/release/a6pour7wd5exxdsuja7axugz4u

30 July 2022

release_a6pour7wd5exxdsuja7axugz4u

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/a6pour7wd5exxdsuja7axugz4u

30 July 2022

https://api.fatcat.wiki/v0/release/a6pour7wd5exxdsuja7axugz4u

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/a6pour7wd5exxdsuja7axugz4u

1 reference

30 July 2022