(Q31109088)

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Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction

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scholarly article

1 reference

Europe PubMed Central

14 August 2017

Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction (English)

1 reference

Europe PubMed Central

14 August 2017

1 reference

based on heuristic

inferred from title

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object named as

Norbert Arnold

8

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Barbara Wappenschmidt

1

object named as

Barbara Wappenschmidt

1 reference

Europe PubMed Central

14 August 2017

11

object named as

Alfons Meindl

1 reference

Europe PubMed Central

14 August 2017

Rita Schmutzler

12

object named as

Rita K Schmutzler

1 reference

Europe PubMed Central

14 August 2017

9

object named as

Kerstin Rhiem

1 reference

Europe PubMed Central

14 August 2017

author name string

Alexandra A Becker

2

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Europe PubMed Central

14 August 2017

Jan Hauke

3

1 reference

Europe PubMed Central

14 August 2017

Ute Weber

4

1 reference

Europe PubMed Central

14 August 2017

Stefanie Engert

5

1 reference

Europe PubMed Central

14 August 2017

Juliane Köhler

6

1 reference

Europe PubMed Central

14 August 2017

Karin Kast

7

1 reference

Europe PubMed Central

14 August 2017

Eric Hahnen

10

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Europe PubMed Central

14 August 2017

language of work or name

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publication date

11 December 2012

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Europe PubMed Central

14 August 2017

1 reference

Europe PubMed Central

14 August 2017

7

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Europe PubMed Central

14 August 2017

12

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Europe PubMed Central

14 August 2017

e50800

1 reference

Europe PubMed Central

14 August 2017

copyright license

Creative Commons Attribution 4.0 International

11 December 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

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=3519833

14 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=3519833

14 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=3519833

14 July 2018

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

1 reference

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14 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=3519833

14 July 2018

Splicing in disease: disruption of the splicing code and the decoding machinery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 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=3519833

14 July 2018

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

Identification of the breast cancer susceptibility gene BRCA2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

Mutation analysis of the BRCA1 gene in ovarian cancers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

14 July 2018

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

BRCA1 variants in a family study of African-American and Latina women

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050800

21 January 2018

Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519833

25 November 2018

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/23239986

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of specific BRCA1 and BRCA2 variants by DHPLC

1 reference

https://pubmed.ncbi.nlm.nih.gov/23239986

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany

1 reference

https://pubmed.ncbi.nlm.nih.gov/23239986

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population

1 reference

https://pubmed.ncbi.nlm.nih.gov/23239986

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/23239986

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of functional messenger RNA splice variants of BRCA1 expressed in nonmalignant and tumor-derived breast cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/23239986

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site

1 reference

https://pubmed.ncbi.nlm.nih.gov/23239986

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0050800

1 reference

Europe PubMed Central

14 August 2017

2012PLoSO...750800W

0 references

release_l44tgzk4b5fvjmmrjecrfirloy

1 reference

https://api.fatcat.wiki/v0/release/l44tgzk4b5fvjmmrjecrfirloy

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

14 August 2017

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Europe PubMed Central

14 August 2017

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