Hunter Cancer Research Alliance
As a multidisciplinary and multi-institutional alliance, the Hunter Cancer Research Alliance (HCRA) functions to provide capacity building, funding and strategic support to cancer research across the translational research continuum – from basic research through clinical trials to behavioural, implementation and health services research.
With the support of our partnering institutions, executive leaders and a membership that consists of 250+ cancer-focused researchers, we are working to promote the excellence of cancer research in the Hunter and ultimately improve cancer patient outcomes in our region and beyond.
HCRA Director, Professor Stephen Ackland, explains the work of HCRA in the video below:
Whole-genome landscape of pancreatic neuroendocrine tumours
Aldo Scarpa, David K. Chang, Katia Nones, Christopher J. Scarlett et al
The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to more sensitive detection methods, and this increase is creating challenges for clinical management. We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterize their pathogenesis. 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. 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. Together with mutations in MEN1 and VHL, these mutations occur in 17% of patients. Somatic mutations, including point mutations and gene fusions, were commonly found in genes involved in four main pathways: chromatin remodelling, DNA damage repair, activation of mTOR signalling (including previously undescribed EWSR1 gene fusions), and telomere maintenance. In addition, our gene expression analyses identified a subgroup of tumours associated with hypoxia and HIF signalling.