Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.

doi:10.1038/s41431-023-01423-8

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Article

Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.

European journal of human genetics : EJHG - 1 Oct 2023

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, Brecht Ines B

Abstract excerpt

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 additional children with cancer resulting in important implications for...

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PMID: 37507557
DOI: 10.1038/s41431-023-01423-8
PMCID: PMC10545765

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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