Hereditary paraganglioma : genetics and tumor biology

Author(s):
Hoekstra, A.S.
Published
2017
Publication type
Doctoral Thesis

Abstract

This thesis aims to gain insight in the genetics, inheritance and tumor biology of head and neck paragangliomas, with a focus on SDHD and SDHAF2-related tumors. Mutations in SDHD and SDHAF2 show a remarkable

parent-of-origin dependent tumorigenesis in which tumor formation almost exclusively occurs

following paternal transmission of the mutation. The Hensen model is discussed to explain this striking inheritance pattern seen in SDHD and SDHAF2-linked families.

ParagangliomaPheochromocytomaSDHDSDHAF2SDHBSDHCFHSuccinateFumarateHIF1
Defense date
2017-02-02
Language
English
Supervisor(s)
Devilée, P.
Advisor(s)
Bayley, J.P.
Committee member(s)
Bovée, J.V.M.G.; Hensen, E.F.; Krijger, R. de; Robledo, M.
Qualification
Ph.D.
Degree granting institution
Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University, Leiden
hdl
1887/45622
ISBN(s)
9789463321341