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Exome sequencing of 99 early-stage pancreatic cancers from the Australian genome initiative confirmed the four known drivers, added ATM and chromatin genes to the list, and found unexpected damage to nerve-guidance genes.
Exome sequencing and copy-number analysis were performed on a prospectively accrued clinical cohort of 142 early (stage I and II) sporadic pancreatic ductal adenocarcinomas; 99 informative tumours carried 2,016 non-silent mutations and 1,628 copy-number variations. Sixteen significantly mutated genes reaffirmed KRAS, TP53, CDKN2A, SMAD4, MLL3, TGFBR2, ARID1A and SF3B1 and uncovered EPC1, ARID2, ATM, ZIM2, MAP2K4, NALCN, SLC16A4 and MAGEA6. Frequent and diverse somatic aberrations were found in axon guidance genes, particularly SLIT/ROBO signalling, also seen in Sleeping Beauty transposon mouse models.
Deposited as paad_icgc on cBioPortal (KRAS mutated in 94 of 99).
The APGI cohort became the backbone of the QCMG whole-genome and subtype papers; ATM's entry here is the origin of its place on today's germline panels.
Shares Somatic mutations from exome and genome sequencing (WXS, WGS), Garvan Institute of Medical Research / Kinghorn Cancer Centre, ARID1A, SWI/SNF chromatin remodelling.
Shares SMAD4, CDKN2A, Nature, Whole-exome & whole-genome sequencing.
Shares SMAD4, CDKN2A, TP53, Resectable pancreatic ductal adenocarcinoma.
Shares TGFBR2, SMAD4, TGF-β signalling, Whole-exome & whole-genome sequencing.
Shares SMAD4, TGF-β signalling, TP53, KRAS.
Shares SMAD4, CDKN2A, Pancreatic cancer (KEGG map), TP53.