An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition (Q34027876)

30 July 2017

title

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition (English)

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30 July 2017

6

Ivan Bièche

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Rosette Lidereau

11

object named as

Rosette Lidereau

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Catherine Nogues

8

object named as

Catherine Noguès

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30 July 2017

Danièle Muller

1

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30 July 2017

Etienne Rouleau

2

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30 July 2017

Inès Schultz

3

1 reference

30 July 2017

Sandrine Caputo

4

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30 July 2017

Cédrick Lefol

5

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30 July 2017

Olivier Caron

7

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30 July 2017

Jean Marc Limacher

9

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30 July 2017

Liliane Demange

10

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30 July 2017

Jean Pierre Fricker

12

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30 July 2017

Joseph Abecassis

13

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30 July 2017

publication date

22 September 2011

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30 July 2017

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30 July 2017

volume

12

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30 July 2017

page(s)

121

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

30 July 2017

cites work

1 reference

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PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2.

5 July 2018

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Amplification of EMSY gene in a subset of sporadic pancreatic adenocarcinomas

5 July 2018

1 reference

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High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1.

5 July 2018

1 reference

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Meta-analysis of BRCA1 and BRCA2 penetrance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

The contribution of germline rearrangements to the spectrum of BRCA2 mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

Large genomic deletions inactivate the BRCA2 gene in breast cancer families

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

EMSY links breast cancer gene 2 to the 'Royal Family'

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

M phase-specific phosphorylation of BRCA2 by Polo-like kinase 1 correlates with the dissociation of the BRCA2-P/CAF complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

The BRCA2 activation domain associates with and is phosphorylated by a cellular protein kinase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198910

Increased level of exon 12 alternatively spliced BRCA2 transcripts in tumor breast tissue compared with normal tissue

5 July 2018

1 reference

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Structure and expression of variant BRCA2a lacking the transactivation domain

5 July 2018

1 reference

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Transcriptional activation functions in BRCA2

5 July 2018

1 reference

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Caution should be taken in the methodology used to confirm c.156_157insAlu BRCA2 mutation.

5 July 2018

1 reference

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Molecular diagnosis of the Portuguese founder mutation BRCA2 c.156_157insAlu.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2350-12-121

Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2350-12-121

De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2350-12-121

The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2350-12-121

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2350-12-121

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/10.1186/1471-2350-12-121

A novel BRCA2-binding protein and breast and ovarian tumorigenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2350-12-121

Amplification of the BRCA2 Pathway Gene EMSY in Sporadic Breast Cancer Is Related to Negative Outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2350-12-121

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

21 January 2018

1 reference

12 December 2020

The BRCA2 transactivation domain does not interact with JNK

1 reference

12 December 2020

Significant contribution of germline BRCA2 rearrangements in male breast cancer families

1 reference

12 December 2020

A somatic BRCA2 mutation in RER endometrial carcinomas that specifically deletes the amino-terminal transactivation domain

1 reference

12 December 2020

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants

1 reference

12 December 2020

[Identification and management of hereditary breast-ovarian cancers (2004 update)]

1 reference

12 December 2020

Caution Should Be Used When Interpreting Alterations Affecting the Exon 3 of the BRCA2 Gene in Breast/Ovarian Cancer Families

1 reference

12 December 2020

Splice variant lacking the transactivation domain of theBRCA2 gene and mutations in the splice acceptor site of intron 2

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

Identifiers

DOI

10.1186/1471-2350-12-121

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference