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Familial Cancer

Erschienen in:

01.01.2016 | Original Article

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned

verfasst von: Bich-Thu Duong, Ravi Savarirayan, Ingrid Winship

Erschienen in: Familial Cancer | Ausgabe 1/2016

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Abstract

Incidental findings are inevitable as clinical research and practice transitions from a single gene approach to a genomic approach. A novel deletion of the Fumarate Hydratase (FH) gene was identified in a 22 year old male who underwent a molecular karyotype as part of an autism spectrum disorder research project. This unexpected result implies a predisposition to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), a rare, autosomal dominant condition and has unforeseen implications for him and his family. We review the typical features and management of HLRCC and discuss the challenges that face health professionals, as genetic testing advances and becomes more accessible.

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Titel: Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned
verfasst von: Bich-Thu Duong
Ravi Savarirayan
Ingrid Winship
Publikationsdatum: 01.01.2016
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 1/2016
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-015-9829-5

Springer Medizin

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned

Abstract

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