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No difference in phenotype of the main Dutch SDHD founder mutations Vrije Universiteit Brussel

Leonie T van Hulsteijn, A C den Dulk, Frederik Jan Hes, Jean-Pierre Bayley, Julie Jansen, Eleonora P M Corssmit

OBJECTIVE: SDHD mutations predispose carriers to hereditary paraganglioma syndrome. The objective of this study was to assess the genotype-phenotype correlation of a large Dutch cohort of SDHD mutation carriers and evaluate potential differences in clinical phenotypes due to specific SDHD gene mutations.

DESIGN: Retrospective, descriptive single-centre study.

PATIENTS: All consecutive SDHD mutation carriers followed at the ...

Loss of ARID1A expression and its relationship with PI3K-Akt pathway alterations, TP53 and microsatellite instability in endometrial cancer Vrije Universiteit Brussel

Tjalling Bosse, Natalja T ter Haar, Laura M Seeber, Paul J v Diest, Frederik Jan Hes, Hans F A Vasen, Remi A Nout, Carien L Creutzberg, Hans Morreau, Vincent T H B M Smit, et al.

The switch/sucrose non-fermentable (SWI/SNF) subunit ARID1A (AT-rich interactive domain 1A gene) has been recently postulated as a novel tumor suppressor of gynecologic cancer and one of the driver genes in endometrial carcinogenesis. However, specific relationships with established molecular alterations in endometrioid endometrial cancer (EEC) are currently unknown. We analyzed the expression of ARID1A in 146 endometrial cancers (130 EECs ...