(Q46145271)

19 December 2017

title

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

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19 December 2017

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17

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19 December 2017

Amanda Spurdle

22

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19 December 2017

Laura Fachal

Laura Fachal

8

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Sara Gutiérrez-Enríquez

Sara Gutiérrez-Enríquez

6

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Uffe Birk Jensen

Uffe B Jensen

16

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Orland Diez

Orland Diez

21

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David Goldgar

19

David E Goldgar

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19 December 2017

author name string

Mads Thomassen

1

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19 December 2017

Ana Blanco

2

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19 December 2017

Marco Montagna

3

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19 December 2017

Thomas V O Hansen

4

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19 December 2017

Inge S Pedersen

5

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19 December 2017

Mireia Menéndez

7

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19 December 2017

Marta Santamariña

9

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19 December 2017

Ane Y Steffensen

10

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19 December 2017

Lars Jønson

11

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19 December 2017

Simona Agata

12

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19 December 2017

Phillip Whiley

13

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19 December 2017

Silvia Tognazzo

14

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19 December 2017

Eva Tornero

15

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19 December 2017

Torben A Kruse

18

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19 December 2017

Conxi Lázaro

20

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19 December 2017

Ana Vega

23

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19 December 2017

language of work or name

English

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publication date

19 July 2011

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19 December 2017

Breast Cancer Research and Treatment

published in

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19 December 2017

volume

132

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19 December 2017

issue

3

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19 December 2017

page(s)

1009-1023

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19 December 2017

https://scigraph.springernature.com/pub.10.1007/s10549-011-1674-0

exact match

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cites work

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

Statistical features of human exons and their flanking regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

GeneSplicer: a new computational method for splice site prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

Predictive identification of exonic splicing enhancers in human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

Prediction and assessment of splicing alterations: implications for clinical testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

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/10.1007%2FS10549-011-1674-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

Assessment of functional effects of unclassified genetic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

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/10.1007%2FS10549-011-1674-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10549-011-1674-0

10.1007/S10549-011-1674-0

21 January 2018

Identifiers

DOI

1 reference

19 December 2017

PubMed ID

21769658

1 reference

19 December 2017