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Table 1.

Cancers associated with SETD2 mutation

Cancer type Mutation % (total samples) References
Clear cell renal cell carcinoma 15.6% (418 samples) The Cancer Genome Atlas 2013a
High-grade glioma 15% (543 samples) Fontebasso et al. 2013
Uterine carcinosarcoma
Uterine corpus endometrioid carcinoma
13.6% (22 samples)
9% (240 samples)
Jones et al. 2014
The Cancer Genome Atlas et al. 2013
Acute lymphocytic leukemia 12% (125 samples)
10% (94 samples)
Zhang et al. 2012; Mar et al. 2014
Bladder urothelial carcinoma 10.2% (107 samples)
6% (50 samples)
The Cancer Genome Atlas 2014b;
Van Allen et al. 2014
Desmoplastic melanoma
Melanoma
Cutaneous melanoma
10% (20 samples)
8% (25 samples)
5.5% (91 samples)
Berger et al. 2012
Shain et al. 2015
Berger et al. 2012; Hodis et al. 2012
Lung adenocarcinoma 9% (230 samples)
5.5% (182 samples)
Imielinski et al. 2012; The Cancer Genome Atlas 2014c
Colorectal adenocarcinoma 8.3% (72 samples)
6.1% (212 samples)
The Cancer Genome Atlas 2012; Seshagiri et al. 2012
Pancreatic adenocarcinoma 8.3% (109 samples) Witkiewicz et al. 2015
Stomach adenocarcinoma 7% (287 samples) The Cancer Genome Atlas 2014a
Papillary renal cell carcinoma 7.6% (157 samples) The Cancer Genome Atlas et al. 2016
Cutaneous squamous cell carcinoma 6.9% (29 samples) Li et al. 2015

Cancers are selected for which the mutation rate in CBioPortal (Cerami et al. 2012; Gao et al. 2013) exceeded 5% and a publication was available. Indicated mutation rate reflects published results. Additional cancers discussed in the text are also included.