Associated Genetic Biomarkers

Overview

NCI Definition: A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. [1]

Urothelial carcinomas most frequently harbor alterations in TP53, KDM6A, KMT2D, FGFR3, and ARID1A [2].

Most Commonly Altered Genes in Urothelial Carcinoma

TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 c.142-c.212 Missense, TP53 c.1-c.137 Missense, and TP53 Missense are the most common alterations in urothelial carcinoma [2].

Top Alterations in Urothelial Carcinoma

Biomarker-Directed Therapies

Significant Genes in Urothelial Carcinoma

ABL1 +

ATM +

ATR +

ATRX +

BAP1 +

BARD1 +

BLM +

BRAF +

BRCA1 +

BRCA2 +

BRD4 +

BRIP1 +

C11ORF30 +

CCND1 +

CDK12 +

CHEK1 +

CHEK2 +

CREBBP +

DDR2 +

DOT1L +

EGFR +

EP300 +

EPHA2 +

ERBB2 +

ERBB3 +

ERBB4 +

ERCC1 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FGF1 +

FGF10 +

FGF11 +

FGF12 +

FGF13 +

FGF14 +

FGF16 +

FGF17 +

FGF18 +

FGF19 +

FGF2 +

FGF20 +

FGF21 +

FGF22 +

FGF23 +

FGF3 +

FGF4 +

FGF5 +

FGF6 +

FGF7 +

FGF8 +

FGF9 +

FGFR1 +

FGFR2 +

FGFR3 +

FGFR4 +

FLT1 +

FLT4 +

FRK +

HDAC1 +

HDAC2 +

HRAS +

IKBKE +

KDR +

KIT +

KRAS +

MAPK11 +

MCPH1 +

MDC1 +

MDM2 +

MDM4 +

MEN1 +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MTAP +

MUTYH +

NBN +

NPM1 +

PALB2 +

PARP1 +

PARP2 +

PDGFRA +

PDGFRB +

PMS1 +

PMS2 +

POLD1 +

POLE +

POLQ +

PPP2R1A +

PPP2R2A +

PRKDC +

PTEN +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD52 +

RAD54L +

RAF1 +

RBBP8 +

RECQL4 +

RET +

SLX4 +

SMARCB1 +

STAG2 +

STK11 +

TACC3 +

TEK +

TP53 +

TRNAK2 +

TSC1 +

TSC2 +

VEGFA +

VEGFB +

VEGFC +

WRN +

XRCC1 +

XRCC2 +

XRCC3 +

XRCC4 +

XRCC5 +

XRCC6 +

Disease Details

Synonyms
Transitional Cell Carcinoma of the Urinary Tract, Transitional cell carcinoma of the urothelial tract, Transitional cell car. -uroth., Uroepithelial Carcinoma
Parent(s)
Transitional Cell Carcinoma
Children
Renal Pelvis Urothelial Carcinoma, Bladder Urothelial Carcinoma, Renal Pelvis Papillary Urothelial Carcinoma, Ureter Urothelial Carcinoma, Renal Pelvis and Ureter Urothelial Carcinoma, and Urethral Urothelial Carcinoma

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.