Hypermutation In Pancreatic Cancer

Journal article

Publication Details

Author(s): Humphris JL, Patch AM, Nones K, Bailey PJ, Johns AL, Mckay S, Chang DK, Miller DK, Pajic M, Kassahn KS, Quinn MCJ, Bruxner TJC, Christ AN, Harliwong I, Idrisoglu S, Manning S, Nourse C, Nourbakhsh E, Stone A, Wilson PJ, Anderson M, Fink JL, Holmes O, Kazakoff S, Leonard C, Newell F, Waddell N, Wood S, Mead RS, Xu Q, Wu J, Pinese M, Cowley MJ, Jones MD, Nagrial AM, Chin VT, Chantrill LA, Mawson A, Chou A, Scarlett CJ, Pinho AV, Rooman I, Giry-Laterriere M, Samra JS, Kench JG, Merrett ND, Toon CW, Epari K, Nguyen NQ, Barbour A, Zeps N, Jamieson NB, Mckay CJ, Carter CR, Dickson EJ, Graham JS, Duthie F, Oien K, Hair J, Morton JP, Sansom OJ, Grützmann R, Hruban RH, Maitra A, Iacobuzio-Donahue CA, Schulick RD, Wolfgang CL, Morgan RA, Lawlor RT, Rusev B, Corbo V, Salvia R, Cataldo I, Tortora G, Tempero MA, Hofmann O, Eshleman JR, Pilarsky C, Scarpa A, Musgrove EA, Gill AJ, Pearson JV, Grimmond SM, Waddell N, Biankin AV, Pilarsky C
Journal: Gastroenterology
Publication year: 2017
Volume: 152
Journal issue: 1
Pages range: 68-74.e2
ISSN: 0016-5085


Pancreatic cancer is molecularly diverse, with few effective therapies. Increased mutation burden and defective DNA repair are associated with response to immune checkpoint inhibitors in several other cancer types. We interrogated 385 pancreatic cancer genomes to define hypermutation and its causes. Mutational signatures inferring defects in DNA repair were enriched in those with the highest mutation burdens. Mismatch repair deficiency was identified in 1% of tumors harboring different mechanisms of somatic inactivation of MLH1 and MSH2. Defining mutation load in individual pancreatic cancers and the optimal assay for patient selection may inform clinical trial design for immunotherapy in pancreatic cancer.

FAU Authors / FAU Editors

Grützmann, Robert Prof. Dr.
Lehrstuhl für Allgemein- und Viszeralchirurgie
Pilarsky, Christian Prof. Dr.
Professur für Chirurgische Forschung
Pilarsky, Christian Prof. Dr.
Chirurgische Klinik

External institutions with authors

Bankstown-Lidcombe Hospital
Beatson West of Scotland Cancer Centre (BWSCC)
Fiona Stanley Hospital
Garvan Institute of Medical Research
Glasgow Royal Infirmary (GRI)
Johns Hopkins University
QIMR Berghofer Medical Research Institute (früher: the Queensland Institute of Medical Research)
Queen Elizabeth University Hospital
Royal Adelaide Hospital
Royal North Shore Hospital (RNSH)
Southern General Hospital
University Hospital of Verona
University of Glasgow
University of Queensland
University of Verona / Università degli Studi di Verona
University of Western Australia (UWA)

How to cite

Humphris, J.L., Patch, A.-M., Nones, K., Bailey, P.J., Johns, A.L., Mckay, S.,... Pilarsky, C. (2017). Hypermutation In Pancreatic Cancer. Gastroenterology, 152(1), 68-74.e2. https://dx.doi.org/10.1053/j.gastro.2016.09.060

Humphris, Jeremy L., et al. "Hypermutation In Pancreatic Cancer." Gastroenterology 152.1 (2017): 68-74.e2.


Last updated on 2018-09-10 at 07:25