(Q35304241)

7 August 2017

title

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

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7 August 2017

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5

Marie-Pierre Buisine

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author name string

Jean Christophe Théry

1

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7 August 2017

Sophie Krieger

2

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7 August 2017

Pascaline Gaildrat

3

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7 August 2017

Françoise Révillion

4

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7 August 2017

Audrey Killian

6

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7 August 2017

Christiane Duponchel

7

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7 August 2017

Antoine Rousselin

8

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7 August 2017

Dominique Vaur

9

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7 August 2017

Jean-Philippe Peyrat

10

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7 August 2017

Pascaline Berthet

11

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7 August 2017

Thierry Frébourg

12

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7 August 2017

Alexandra Martins

13

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7 August 2017

Agnès Hardouin

14

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7 August 2017

Mario Tosi

15

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7 August 2017

publication date

15 June 2011

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European Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

19

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7 August 2017

issue

10

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7 August 2017

page(s)

1052-1058

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https://scigraph.springernature.com/pub.10.1038/ejhg.2011.100

7 August 2017

exact match

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cites work

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

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Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

27 July 2018

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

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

27 July 2018

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Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

27 July 2018

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27 July 2018

The meaning of nonsense

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Functional assays for classification of BRCA2 variants of uncertain significance

27 July 2018

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

27 July 2018

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The contribution of germline rearrangements to the spectrum of BRCA2 mutations

27 July 2018

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

27 July 2018

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Splicing in action: assessing disease causing sequence changes

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

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

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190263

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.100

BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21673748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21673748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.100

1 reference

7 August 2017

1 reference

7 August 2017

1 reference