brca1 exon
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Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants

2021 ◽  
Author(s):  
Gorka Ruiz de Garibay ◽  
Ignacio Fernandez‐Garcia ◽  
Sylvie Mazoyer ◽  
Flavia Leme de Calais ◽  
Pietro Ameri ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Pathogenic Variants ◽  
Altered Regulation ◽  
Exon 11 ◽  
Brca1 Exon

Abstract PR01: Assessment of PARPi and cisplatin resistance in BRCA1 exon 11 mutant patient -derived xenografts

2020 ◽  
Author(s):  
John J Krais ◽  
Emma Clausen ◽  
Vladimir Khazak ◽  
Igor Astsaturov ◽  
Clare L Scott ◽  
...  
Keyword(s):  
Cisplatin Resistance ◽  
Exon 11 ◽  
Brca1 Exon

scholarly journals The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden

2018 ◽  
Vol 18 (1) ◽  
pp. 37-42
Author(s):  
Christina Edwinsdotter Ardnor ◽  
Anna Rosén ◽  
Ingrid Ljuslinder ◽  
Beatrice Melin
Keyword(s):  
Clinical Characteristics ◽  
Northern Sweden ◽  
Brca1 Exon

scholarly journals BRCA1 Exon 11, a CERES (Composite Regulatory Element of Splicing) Element Involved in Splice Regulation

2014 ◽  
Vol 15 (7) ◽  
pp. 13045-13059 ◽  
Author(s):  
Claudia Tammaro ◽  
Michela Raponi ◽  
David Wilson ◽  
Diana Baralle
Keyword(s):  
Regulatory Element ◽  
Splice Regulation ◽  
Exon 11 ◽  
Brca1 Exon

scholarly journals BRCA1 exon 11 a model of long exon splicing regulation

RNA Biology ◽  
2014 ◽  
Vol 11 (4) ◽  
pp. 351-359 ◽  
Author(s):  
Michela Raponi ◽  
Lindsay D Smith ◽  
Marco Silipo ◽  
Cristiana Stuani ◽  
Emanuele Buratti ◽  
...  
Keyword(s):  
Splicing Regulation ◽  
Exon Splicing ◽  
Exon 11 ◽  
Brca1 Exon

BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer

2012 ◽  
Vol 40 (4) ◽  
pp. 768-772 ◽  
Author(s):  
Claudia Tammaro ◽  
Michela Raponi ◽  
David I. Wilson ◽  
Diana Baralle
Keyword(s):  
Breast Cancer ◽  
Alternative Splicing ◽  
Cancer Biology ◽  
Mammary Epithelial Cells ◽  
Splice Variants ◽  
Mammary Epithelial ◽  
Cell Phenotype ◽  
Exon 11 ◽  
The Impact ◽  
Brca1 Exon

BRCA1 (breast cancer early-onset 1) alternative splicing levels are regulated in a cell-cycle- and cell-type-specific manner, with splice variants being present in different proportions in tumour cell lines as well as in normal mammary epithelial cells. The importance of this difference in the pathogenesis of breast cancer has yet to be determined. Developing an understanding of the impact of BRCA1 isoform ratio changes on cell phenotype will be of value in breast cancer and may offer therapeutic options. In the present paper, we describe the splicing isoforms of BRCA1 exon 11, their possible role in cancer biology and the importance of maintaining a balanced ratio.

scholarly journals Evolutionary Constraint Helps Unmask a Splicing Regulatory Region in BRCA1 Exon 11

PLoS ONE ◽  
2012 ◽  
Vol 7 (5) ◽  
pp. e37255 ◽  
Author(s):  
Michela Raponi ◽  
Andrew G. L. Douglas ◽  
Claudia Tammaro ◽  
David I. Wilson ◽  
Diana Baralle
Keyword(s):  
Regulatory Region ◽  
Evolutionary Constraint ◽  
Exon 11 ◽  
Brca1 Exon

A missense variant within BRCA1 exon 23 causing exon skipping

2010 ◽  
Vol 202 (2) ◽  
pp. 144-146 ◽  
Author(s):  
Etienne Rouleau ◽  
Cédrick Lefol ◽  
Virginie Moncoutier ◽  
Laurent Castera ◽  
Claude Houdayer ◽  
...  
Keyword(s):  
Exon Skipping ◽  
Missense Variant ◽  
Brca1 Exon

Identification of the first case of germline duplication of BRCA1 exon 13 in an Italian family

2009 ◽  
Vol 9 (3) ◽  
pp. 275-282 ◽  
Author(s):  
Roberta Cerutti ◽  
Nora Sahnane ◽  
Ileana Carnevali ◽  
Daniela Furlan ◽  
Maria Grazia Tibiletti ◽  
...  
Keyword(s):  
Italian Family ◽  
First Case ◽  
Brca1 Exon
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