Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer
About this item
Full title
Author / Creator
Davy, Grégoire , Rousselin, Antoine , Goardon, Nicolas , Castéra, Laurent , Harter, Valentin , Legros, Angelina , Muller, Etienne , Fouillet, Robin , Brault, Baptiste , Smirnova, Anna S , Lemoine, Fréderic , de la Grange, Pierre , Guillaud-Bataille, Marine , Caux-Moncoutier, Virginie , Houdayer, Claude , Bonnet, Françoise , Blanc-Fournier, Cécile , Gaildrat, Pascaline , Frebourg, Thierry , Martins, Alexandra , Vaur, Dominique and Krieger, Sophie
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Interpretation of variants of unknown significance (VUS) is a major challenge for laboratories performing molecular diagnosis of hereditary breast and ovarian cancer (HBOC), especially considering that many genes are now known to be involved in this syndrome. One important way these VUS can have a functional impact is through their effects on RNA s...
Alternative Titles
Full title
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer
Authors, Artists and Contributors
Author / Creator
Rousselin, Antoine
Goardon, Nicolas
Castéra, Laurent
Harter, Valentin
Legros, Angelina
Muller, Etienne
Fouillet, Robin
Brault, Baptiste
Smirnova, Anna S
Lemoine, Fréderic
de la Grange, Pierre
Guillaud-Bataille, Marine
Caux-Moncoutier, Virginie
Houdayer, Claude
Bonnet, Françoise
Blanc-Fournier, Cécile
Gaildrat, Pascaline
Frebourg, Thierry
Martins, Alexandra
Vaur, Dominique
Krieger, Sophie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5602017
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5602017
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2017.116
