Associated Genetic Biomarkers

Overview

NCI Definition: The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival. [1]

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

Most Commonly Altered Genes in Bladder Urothelial Carcinoma

TP53 Mutation, TP53 Missense, TP53 c.217-c.1178 Missense, KMT2D Mutation, and KDM6A Mutation are the most common alterations in bladder urothelial carcinoma [2].

Top Alterations in Bladder Urothelial Carcinoma

Significant Genes in Bladder Urothelial Carcinoma

ARID1A +

ATM +

ATR +

ATRX +

BARD1 +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CDK12 +

CHEK1 +

CHEK2 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FGFR1 +

FGFR3 +

HDAC1 +

HDAC2 +

MDM2 +

MDM4 +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MUTYH +

NBN +

NPM1 +

PALB2 +

PARP1 +

PARP2 +

PMS1 +

PMS2 +

POLE +

PPP2R1A +

PPP2R2A +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

SLX4 +

SMARCB1 +

STAG2 +

STK11 +

TSC1 +

TSC2 +

XRCC1 +

Disease Details

Synonyms
Urinary Bladder Transitional Cell Carcinoma, Bladder Transitional Cell Carcinoma, Urinary Bladder Urothelial Carcinoma, Transitional Cell Carcinoma of the Urinary Bladder, Urothelial Carcinoma of the Urinary Bladder, Bladder urothelial (transitional cell) carcinoma
Parent(s)
Urothelial Carcinoma
Children
Bladder Papillary Urothelial Carcinoma, Bladder Urachal Urothelial Carcinoma, and Infiltrating Bladder Urothelial Carcinoma
OncoTree Name
Bladder Urothelial Carcinoma
OncoTree Code
BLCA

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 6. 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.