POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.
Erica ShenJoanne XiuGiselle Y LopezRex BentleyAli JalaliAmy B HeimbergerMatthew N BainbridgeMelissa L BondyKyle M WalshPublished in: Journal of medical genetics (2020)
These results confirm a role for shelterin dysfunction in angiosarcoma development but suggest that gliomas arising in the context of germline POT1 deficiency activate a telomere-lengthening mechanism that is uncommon in gliomagenesis.