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 (Q35121513)

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English	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	scientific article

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scholarly article

1 reference

Europe PubMed Central

6 August 2017

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 (English)

1 reference

Europe PubMed Central

6 August 2017

Bryony A Thompson

object named as

Bryony A Thompson

5

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object named as

Logan C Walker

3

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Melissa A Brown

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Melissa A Brown

11

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Sunil R Lakhani

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Sunil R Lakhani

6

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object named as

Amanda B Spurdle

13

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Fergus J. Couch

12

object named as

Fergus J Couch

1 reference

Europe PubMed Central

6 August 2017

kConFab Investigators

8

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kConFab Investigators

1 reference

Europe PubMed Central

6 August 2017

10

object named as

David E Goldgar

1 reference

Europe PubMed Central

6 August 2017

Sean V Tavtigian

9

object named as

Sean V Tavtigian

1 reference

Europe PubMed Central

6 August 2017

Phillip J Whiley

1

object named as

Phillip J Whiley

1 reference

Europe PubMed Central

6 August 2017

2

object named as

Lucia Guidugli

1 reference

Europe PubMed Central

6 August 2017

4

object named as

Sue Healey

1 reference

Europe PubMed Central

6 August 2017

author name string

Leonard M Da Silva

7

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Europe PubMed Central

6 August 2017

publication date

12 April 2011

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Europe PubMed Central

6 August 2017

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Europe PubMed Central

6 August 2017

32

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Europe PubMed Central

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6

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Europe PubMed Central

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678-687

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Europe PubMed Central

6 August 2017

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

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9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4340479

9 July 2018

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

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

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9 July 2018

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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9 July 2018

Dynamic regulation of alternative splicing by silencers that modulate 5' splice site competition

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Assessment of functional effects of unclassified genetic variants

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Prediction and assessment of splicing alterations: implications for clinical testing

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

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

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A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.

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Proceedings of the international consensus conference on breast cancer risk, genetics, & risk management, April, 2007.

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Touchdown PCR for increased specificity and sensitivity in PCR amplification

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Regulation of alternative splicing: more than just the ABCs

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9 July 2018

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

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9 July 2018

The connection between splicing and cancer.

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9 July 2018

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

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9 July 2018

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

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9 July 2018

Genomic variants in exons and introns: identifying the splicing spoilers

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9 July 2018

A full-likelihood method for the evaluation of causality of sequence variants from family data

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9 July 2018

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

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9 July 2018

A new type of mutation causes a splicing defect in ATM.

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9 July 2018

Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations

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Improved splice site detection in Genie

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9 July 2018

Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation.

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9 July 2018

Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families

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9 July 2018

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.

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The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2.

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Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation.

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Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

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

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https://api.crossref.org/works/10.1002%2FHUMU.21495

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Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21495

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21495

21 January 2018

Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH

1 reference

https://pubmed.ncbi.nlm.nih.gov/21394826

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family

1 reference

https://pubmed.ncbi.nlm.nih.gov/21394826

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Implications of a novel cryptic splice site in the BRCA1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21394826

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21394826

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.21495

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

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