Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndrome

Pediatr Blood Cancer. 2018 Oct;65(10):e27254. doi: 10.1002/pbc.27254. Epub 2018 Jun 12.

Authors

Lisa Pahl¹, Rita Beier², Nils von Neuhoff², Bernd Auber¹, Michaela Höfs², Eva-Christina Prott³, Brigitte Schlegelberger¹, Dirk Reinhardt², Doris Steinemann¹

Affiliations

¹ Department of Human Genetics, Hannover Medical School, Hannover, Germany.
² Pediatric Hematology and Oncology, Department for Pediatrics III, University Hospital of Essen, Essen, Germany.
³ Practice for Human Genetics, Wuppertal, Germany.

PMID: 29893455
DOI: 10.1002/pbc.27254

No abstract available

Keywords: FH; Li-Fraumeni Syndrome; TP53.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Female
Fumarate Hydratase / genetics*
Genetic Predisposition to Disease / genetics*
Humans
Incidental Findings
Li-Fraumeni Syndrome / genetics*
Male
Mutation
Neoplasms / genetics*
Pedigree
Tumor Suppressor Protein p53 / genetics*

Substances

TP53 protein, human
Tumor Suppressor Protein p53
Fumarate Hydratase