Molecular charecteristics for families

SPOP is a protein that can modify other proteins through the attachment of so-called ubiquitin residues. This process is required for the clearence of proteins through an organelle called proteasome.

LoF mutations in SPOP (Thr25Ala, Tyr83Cys, Gly132Val, Arg138Cys) reduce protein degradation of the BET proteins and possibly other proteins. Similar LoF mutations been previously also described as acquired and likely cancer-causing gene mutation in prostate cancer.

However, no increased cancer risk for patients with NSDVS2 have been observed.