https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Homologous recombination DNA repair defects in PALB2-associated breast cancers https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:45235 Wed 26 Oct 2022 19:59:05 AEDT ]]> Whole-genome landscape of pancreatic neuroendocrine tumours https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:34522  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.]]> Wed 06 Apr 2022 13:56:37 AEST ]]>