Kwiatkowski Lab – Brigham and Women's Hospital

KWIATKOWSKI LABORATORY

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