Whole genomes redefine the mutational landscape of pancreatic cancer
- Waddell N
- Pajic M
- Patch AM
- Chang DK
- Kassahn KS
- Bailey P
- Johns AL
- Miller D
- Nones K
- Quek K
- Quinn MC
- Robertson AJ
- Fadlullah MZ
- Bruxner TJ
- Christ AN
- Harliwong I
- Idrisoglu S
- Manning S
- Nourse C
- Nourbakhsh E
- Wani S
- Wilson PJ
- Markham E
- Cloonan N
- Anderson MJ
- Fink JL
- Holmes O
- Kazakoff SH
- Leonard C
- Newell F
- Poudel B
- Song S
- Taylor D
- Waddell N
- Wood S
- Xu Q
- Wu J
- Pinese M
- Cowley MJ
- Lee HC
- Jones MD
- Nagrial AM
- Humphris J
- Chantrill LA
- Chin V
- Steinmann AM
- Mawson A
- Humphrey ES
- Colvin EK
- Chou A
- Scarlett CJ
- Pinho AV
- Giry-Laterriere M
- Rooman I
- Samra JS
- Kench JG
- Pettitt JA
- Merrett ND
- Toon C
- Epari K
- Nguyen NQ
- Barbour A
- Zeps N
- Jamieson NB
- Graham JS
- Niclou SP
- Bjerkvig R
- Grützmann R
- Aust D
- Hruban RH
- Maitra A
- Iacobuzio-Donahue CA
- Wolfgang CL
- Morgan RA
- Lawlor RT
- Corbo V
- Bassi C
- Falconi M
- Zamboni G
- Tortora G
- Tempero MA
- Gill AJ
- Eshleman JR
- Pilarsky C
- Scarpa A
- Musgrove EA
- Pearson JV
- Biankin AV
- Grimmond SM
- Australian Pancreatic Cancer Genome Initiative (collaborators)
DOIAbstract
Pancreatic cancer remains one of the most lethal of malignancies and a major health burden. We performed whole-genome sequencing and copy number variation (CNV) analysis of 100 pancreatic ductal adenocarcinomas (PDACs). Chromosomal rearrangements leading to gene disruption were prevalent, affecting genes known to be important in pancreatic cancer (TP53, SMAD4, CDKN2A, ARID1A and ROBO2) and new candidate drivers of pancreatic carcinogenesis (KDM6A and PREX2). Patterns of structural variation (variation in chromosomal structure) classified PDACs into 4 subtypes with potential clinical utility: the subtypes were termed stable, locally rearranged, scattered and unstable. A significant proportion harboured focal amplifications, many of which con...
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