Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study (Q34327369)

1 August 2017

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study (English)

1 reference

1 August 2017

Dominique Stoppa-Lyonnet

9

Dominique Stoppa-Lyonnet

0 references

Marion Gauthier-Villars

8

Marion Gauthier-Villars

0 references

Virginie Caux-Moncoutier

1

Virginie Caux-Moncoutier

0 references

Claude Houdayer

10

Claude Houdayer

1 reference

1 August 2017

4

Bernard Asselain

1 reference

1 August 2017

3

Dorothée Michaux

1 reference

1 August 2017

6

Antoine De Pauw

1 reference

1 August 2017

7

Bruno Buecher

1 reference

1 August 2017

Sabine Pagès-Berhouet

2

1 reference

PubMed ID

19471317

1 August 2017

Laurent Castéra

5

1 reference

1 August 2017

27 May 2009

1 reference

European Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

17

1 reference

1 August 2017

1471-1480

1 reference

1 August 2017

11

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.89

1 August 2017

0 references

cites work

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

1 reference

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Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women.

6 July 2018

1 reference

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Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer

6 July 2018

1 reference

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Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression

6 July 2018

1 reference

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Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression

6 July 2018

1 reference

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Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

The contribution of germline rearrangements to the spectrum of BRCA2 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

Identification of cis-regulatory elements for MECP2 expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

Allele-specific gene expression differences in humans

6 July 2018

1 reference

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Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

A survey of genetic and epigenetic variation affecting human gene expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

Emerging roles of BRCA1 alternative splicing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

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

6 July 2018

1 reference

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Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

BRCA2 T2722R is a deleterious allele that causes exon skipping

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

Listening to silence and understanding nonsense: exonic mutations that affect splicing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

Improved splice site detection in Genie

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group

6 July 2018

1 reference

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.89

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.89

Allelic Variation in Human Gene Expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.89

Automated splicing mutation analysis by information theory.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.89

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.89

Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.89

Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.89

Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.89

Identification and in silico analysis of functional SNPs of the BRCA1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.89

Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986693

RNA analysis of eightBRCA1andBRCA2unclassified variants identified in breast/ovarian cancer families from Spain

27 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.89

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations

21 January 2018

1 reference

12 December 2020

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

1 reference

12 December 2020

Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques

1 reference

12 December 2020

Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript

1 reference

12 December 2020

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations

1 reference

12 December 2020

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

1 reference

12 December 2020

Genetic variants of uncertain significance: flies in the ointment

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.89

1 reference

1 August 2017

1 reference

1 August 2017

1 reference

PubMed ID

19471317