KWIATKOWSKI LABORATORY
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Figure 1. Co-mutation plot of RCC subjects and mutations.
A plot of all subjects (left to right) with their respective responses,
histology, and mutations is shown.
Taken from: Kwiatkowski DJ et al. Mutations in TSC1, TSC2, and MTOR
Are Associated with Response to Rapalogs in Patients with Metastatic
Renal Cell Carcinoma. Clinical Cancer Research 2016 -
Expression clustering identifies four different types of bladder
cancer. Taken from Kim et al. “Invasive Bladder Cancer: Genomic
Insights and Therapeutic Promise”. Clinical Cancer Research 2015 -
Taken from:Kwiatkowski DJ, Manning BD.
Molecular Basis of Giant Cells in Tuberous
Sclerosis Complex New England Journal of
Medicine 2014 -
Taken from Tyburczy et al. “A shower of second hit
events as the cause of multifocal renal cell carcinoma
in tuberous sclerosis complex”. Human Molecular Genetics 2015 -
- 26 of 45 (58%) mutations identified were mosaic,
with mutant allele frequency ranging from 0.21% to 34%,
including two with 0% frequency
-17 subjects had mosaicism with mutant AF < 5%:
5 indel, 5 nonsense, 2 splice site, 2 missense, and 3 genomic deletion mutations