Study
Novel mutational mechanisms and drivers in Pancreatic Neuroendocrine Tumours
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001001732 | Other |
Study Description
Pancreatic neuroendocrine tumours (PanNETs) are increasing in prevalence due to earlier detection, consequently creating challenges in clinical care, as current classification permits unsatisfactory therapeutic stratification. We performed whole genome sequencing of 102 primary PanNETs and defined the genomic events underlying their pathogenesis. We describe the mutational signatures they harbour, including a novel G:C>T:A Base-Excision-Repair-deficiency signature due to MUTYH inactivation. We uncover a larger than expected proportion of germline mutations in clinically sporadic PanNETs. These include previously unreported mutations in DNA repair genes MUTYH, CHEK2, BRCA2, and PALB2, which together with MEN1 and VHL occur in 16% of patients. Somatic mutations (point mutations and structural rearrangements) commonly occurred in genes involved in 4 main pathways: chromatin remodelling, DNA damage repair, activation of mTOR signalling (including novel EWSR1 gene fusions) and telomere maintenance. Aberrations in these mechanisms are associated with subtypes of PanNET with potential ... (Show More)
Study Datasets 3 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
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EGAD00001002684 |
Whole genome sequencing of 98 tumour-normal pairs for the PAEN-AU pancreatic neuroendocrine cancer project.
|
196 | |
EGAD00001003336 |
BAM outputs from RSEM (https://deweylab.github.io/RSEM/) analysis of RNASeq sequencing on HiSeq platform of tumour samples from 29 pancreatic neuroendocrine cases.
|
29 | |
EGAD00001006063 |
Illumina platform RNA-seq data from 47 Pancreatic neuroendocrine tumour samples
|
41 |
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