Together with mutations in MEN1 and VHL, these mutations occur in 17% of patients. Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2. Here we describe the mutational signatures they harbour, including a deficiency in G:C > T:A base excision repair due to inactivation of MUTYH, which encodes a DNA glycosylase.
We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterize their pathogenesis. The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to more sensitive detection methods, and this increase is creating challenges for clinical management. Nature volume 543, pages 65–71 ( 2017) Cite this article
Whole-genome landscape of pancreatic neuroendocrine tumours
