Associated Genetic Biomarkers

Overview

NCI Definition: A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. [1]

Renal cell carcinomas most frequently harbor alterations in VHL, PBRM1, SETD2, TP53, and BAP1 [2].

Most Commonly Altered Genes in Renal Cell Carcinoma

VHL Mutation (germline), VHL Mutation, SETD2 Mutation, TP53 Mutation, and BAP1 Mutation are the most common alterations in renal cell carcinoma [2].

Top Alterations in Renal Cell Carcinoma

Significant Genes in Renal Cell Carcinoma

AKT1 +

AKT2 +

AKT3 +

ARAF +

ATM +

BAP1 +

BARD1 +

BRAF +

BRCA1 +

BRCA2 +

BRIP1 +

CDK12 +

CHEK1 +

CHEK2 +

CRKL +

EGFR +

ERBB2 +

FANCL +

FH +

FLCN +

HRAS +

IDH1 +

IDH2 +

IRS2 +

KIT +

KRAS +

MAP2K1 +

MAP2K2 +

MAP2K4 +

MAP3K1 +

MAPK1 +

MET +

MLH1 +

MLH3 +

MSH2 +

MSH3 +

MSH6 +

MTOR +

MYC +

NF1 +

NRAS +

PALB2 +

PDGFRA +

PIK3CA +

PIK3CG +

PIK3R1 +

PIK3R2 +

PMS1 +

PMS2 +

PPP2R2A +

PTEN +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

RAF1 +

RET +

RICTOR +

RNF43 +

RPTOR +

SDHA +

SDHB +

SDHC +

SDHD +

SRC +

STK11 +

TFE3 +

TFEB +

TSC1 +

TSC2 +

VHL +

Disease Details

Synonyms
Adenocarcinoma of the Kidney, Kidney Adenocarcinoma, RCC, Renal Cell Cancer, Renal Cell Adenocarcinoma, Renal Cell Carcinoma, Stage Unspecified, Adenocarcinoma of Kidney, Renal cell carcinoma, NOS, CARCINOMA, RENAL CELL, MALIGNANT
Parent(s)
Kidney Carcinoma
Children
Translocation-Associated Renal Cell Carcinoma, Non-Clear Cell Renal Cell Carcinoma, Clear Cell Renal Cell Carcinoma, Mucinous Tubular and Spindle Cell Carcinoma of the Kidney, Multilocular Cystic Renal Cell Carcinoma, Childhood Renal Cell Carcinoma, Hereditary Renal Cell Carcinoma, Papillary Renal Cell Carcinoma, and Sarcomatoid Renal Cell Carcinoma
OncoTree Name
Renal Cell Carcinoma
OncoTree Code
RCC

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.