Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity (Q34495985)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

2 August 2017

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

1 reference

Europe PubMed Central

2 August 2017

Bryony A Thompson

object named as

Bryony A Thompson

10

0 references

object named as

Logan C Walker

1

0 references

Melissa A Brown

object named as

Melissa A Brown

16

0 references

Sunil R Lakhani

object named as

Sunil R Lakhani

11

0 references

object named as

Amanda B Spurdle

17

0 references

object named as

Diana M Eccles

6

0 references

Fergus J. Couch

3

object named as

Fergus J Couch

1 reference

Europe PubMed Central

2 August 2017

kConFab Investigators

13

object named as

kConFab Investigators

1 reference

Europe PubMed Central

2 August 2017

15

object named as

David E Goldgar

1 reference

Europe PubMed Central

2 August 2017

Sean V Tavtigian

14

object named as

Sean V Tavtigian

1 reference

Europe PubMed Central

2 August 2017

Phillip J Whiley

2

object named as

Phillip J Whiley

1 reference

Europe PubMed Central

2 August 2017

5

object named as

Sue Healey

1 reference

Europe PubMed Central

2 August 2017

author name string

Daniel J Farrugia

4

1 reference

Europe PubMed Central

2 August 2017

Feng Lin

7

1 reference

Europe PubMed Central

2 August 2017

Samantha A Butler

8

1 reference

Europe PubMed Central

2 August 2017

Sheila A Goff

9

1 reference

Europe PubMed Central

2 August 2017

Leonard M Da Silva

12

1 reference

Europe PubMed Central

2 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 June 2010

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

31

1 reference

Europe PubMed Central

2 August 2017

6

1 reference

Europe PubMed Central

2 August 2017

E1484-505

1 reference

Europe PubMed Central

2 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Assessment of functional effects of unclassified genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Prediction and assessment of splicing alterations: implications for clinical testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Functional assays for classification of BRCA2 variants of uncertain significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Classification of BRCA1 missense variants of unknown clinical significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Reprogramming Alternative Pre-messenger RNA Splicing through the Use of Protein-binding Antisense Oligonucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Role of BRCA2 in control of the RAD51 recombination and DNA repair protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Involvement of Brca2 in DNA repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

6 July 2018

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

27 October 2018

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

27 October 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

27 October 2018

Molecular characterization and cancer risk associated withBRCA1 andBRCA2 splice site variants identified in multiple-case breast cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

9 December 2018

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021973

9 December 2018

Absence of Brca2 causes genome instability by chromosome breakage and loss associated with centrosome amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/20513136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20513136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families

1 reference

https://pubmed.ncbi.nlm.nih.gov/20513136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

1 reference

https://pubmed.ncbi.nlm.nih.gov/20513136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/20513136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classification of missense variants of unknown significance inBRCA1based on clinical and tumor information

1 reference

https://pubmed.ncbi.nlm.nih.gov/20513136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.21267

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34495985&oldid=1976053796"