Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition...
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients
About this item
Full title
Author / Creator
Schroeder, Christopher , Faust, Ulrike , Krauße, Luisa , Liebmann, Alexandra , Abele, Michael , Demidov, German , Schütz, Leon , Kelemen, Olga , Pohle, Alexandra , Gauß, Silja , Sturm, Marc , Roggia, Cristiana , Streiter, Monika , Buchert, Rebecca , Armenau-Ebinger, Sorin , Nann, Dominik , Beschorner, Rudi , Handgretinger, Rupert , Ebinger, Martin , Lang, Peter , Holzer, Ursula , Skokowa, Julia , Ossowski, Stephan , Haack, Tobias B , Mau-Holzmann, Ulrike A , Dufke, Andreas , Riess, Olaf and Brecht, Ines B
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
The prevalence of pathogenic and likely pathogenic (P/LP) variants in genes associated with cancer predisposition syndromes (CPS) is estimated to be 8-18% for paediatric cancer patients. In more than half of the carriers, the family history is unsuspicious for CPS. Therefore, broad genetic testing could identify germline predisposition in additiona...
Alternative Titles
Full title
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients
Authors, Artists and Contributors
Author / Creator
Faust, Ulrike
Krauße, Luisa
Liebmann, Alexandra
Abele, Michael
Demidov, German
Schütz, Leon
Kelemen, Olga
Pohle, Alexandra
Gauß, Silja
Sturm, Marc
Roggia, Cristiana
Streiter, Monika
Buchert, Rebecca
Armenau-Ebinger, Sorin
Nann, Dominik
Beschorner, Rudi
Handgretinger, Rupert
Ebinger, Martin
Lang, Peter
Holzer, Ursula
Skokowa, Julia
Ossowski, Stephan
Haack, Tobias B
Mau-Holzmann, Ulrike A
Dufke, Andreas
Riess, Olaf
Brecht, Ines B
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10545765
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10545765
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-023-01423-8
