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

AuthorsLisa Pahl, Rita Beier, Nils von Neuhoff, Bernd Auber, Michaela Höfs, Eva-Christina Prott, Brigitte Schlegelberger, Dirk Reinhardt, Doris Steinemann
JournalPediatric blood & cancer (Pediatr Blood Cancer) Vol. 65 Issue 10 Pg. e27254 (10 2018) ISSN: 1545-5017 [Electronic] United States
PMID29893455 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • Fumarate Hydratase
Topics
  • 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)

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