Functional characterization of BRCA1 gene variants by mini-gene splicing assay (Q34508273)

2 August 2017

Functional characterization of BRCA1 gene variants by mini-gene splicing assay (English)

1 reference

2 August 2017

5

Anne-Marie Gerdes

0 references

Bent Ejlertsen

4

object named as

Bent Ejlertsen

1 reference

2 August 2017

6

Finn C Nielsen

1 reference

2 August 2017

Ane Y Steffensen

1

1 reference

2 August 2017

Mette Dandanell

2

1 reference

2 August 2017

Lars Jønson

3

1 reference

2 August 2017

Thomas vO Hansen

7

1 reference

2 August 2017

26 March 2014

1 reference

European Journal of Human Genetics

2 August 2017

1 reference

2 August 2017

22

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2 August 2017

12

1 reference

2 August 2017

1362-1368

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.40

2 August 2017

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cites work

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

A guide for functional analysis of BRCA1 variants of uncertain significance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Prediction and assessment of splicing alterations: implications for clinical testing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231409

Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age.

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.40

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.40

Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.40

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.40

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.40

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.40

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.40

Classification of IVS1-10T-->C as a polymorphism of BRCA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.40

Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.40

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.40

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/10.1038%2FEJHG.2014.40

A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.40

Characterization of two novel BRCA1 germ-line mutations involving splice donor sites

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24667779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24667779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.40

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference