Table 1.

Frequently mutated genes in clear cell renal cell carcinoma (16, 21, 23).

Gene	Chromosome	Protein	Function	Mutation (%)
VHL	3p25.3	von Hippel–Lindau (VHL) disease	VHL, Elongin B and C complex	49–82
PBRM1	3p21.1	Polybromo 1	SWI–SNF complex chromatin remodeling	29–41
SETD2	3p21.31	SET domain-containing 2	Histone H3K36 methyltransferase	8–12
BAP1	3p21.1	BRCA1-associated protein 1	Histone deubiquitinase	6–10
KDM5C	Xp11.22	Lysine demethylase 5C (JARID1C)	H3K4 demethylase	4–8
mTOR	1p36.22	Mechanistic target of rapamycin kinase	Phosphoinositide 3-kinase (PI3K)–AKT–mechanistic target of rapamycin (mTOR) pathway	5–6
PTEN	10q23.31	Phosphatase and tensin homolog	PI3K–AKT–mTOR pathway	4
PIK3CA	3q26.32	PI3K catalytic subunit α	PI3K–AKT–mTOR pathway	3–5
TP53	17p13.1	Tumor protein P53	Cell cycle	2–3
TCEB1 (ELOB)	16p13.3	Elongin B	VHL, Elongin B and C complex	1–3

Loss of heterozygosity at 3p was reported in over 90% of cases, and mutations in components of the PI3K–AKT–mTOR pathway in 28–76%.