(Q46963880)

26 December 2017

title

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants (English)

1 reference

26 December 2017

author

Peter K. Rogan

series ordinal

3

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26 December 2017

author name string

Eliseos J Mucaki

series ordinal

1

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26 December 2017

Peter Ainsworth

series ordinal

2

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26 December 2017

publication date

5 May 2011

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26 December 2017

published in

Human Mutation

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26 December 2017

volume

32

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26 December 2017

issue

7

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26 December 2017

page(s)

735-742

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26 December 2017

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

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

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

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

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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

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The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.

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Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene

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

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Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model

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Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression

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THE GENETICS OF BREAST CANCER SUSCEPTIBILITY

21 January 2018

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

21 January 2018

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

21 January 2018

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7 January 2021

Implications of a novel cryptic splice site in the BRCA1 gene

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7 January 2021

Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21513

1 reference

26 December 2017

1 reference

26 December 2017