Kidney cancer

Summary

Kidney cancer (MONDO:0002367) is a cancer (an umbrella term covering 8 Mondo subtypes) with 23 GWAS associations across 17 studies and 510 clinical trials. Molecularly, RHEB Y35N is associated with resistance to Sirolimus in Kidney Cancer (CIViC Level D). Top therapeutic interventions include aldesleukin, sunitinib malate, and cyclophosphamide anhydrous. A subtype of malignant urinary system neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 8 Mondo subtypes
• GWAS associations: 23
• Clinical trials: 510
• Precision-medicine evidence (CIViC): 1 subtype–drug association

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	kidney cancer
Mondo ID	MONDO:0002367
MeSH	D007680
DOID	DOID:263
NCIT	C7548
SNOMED CT	363518003
UMLS	C0740457
MedGen	149263
Anatomy (UBERON)	UBERON:0002113
Is cancer (heuristic)	yes

Also known as: cancer of kidney · kidney cancer · malignant kidney neoplasm · malignant kidney tumor · malignant kidney tumour · malignant neoplasm of kidney · malignant neoplasm of the kidney · malignant renal neoplasm · malignant renal tumor · malignant renal tumour · malignant tumor of kidney · malignant tumor of the kidney · malignant tumour of the kidney

Data availability: 23 GWAS associations (17 studies).

Disease family

This is a subtype of malignant urinary system neoplasm. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › malignant urinary system neoplasm › kidney cancer

Related subtypes (9): malignant prostate phyllodes tumor, urinary bladder cancer, urethra cancer, multiple endocrine neoplasia type 2B, ureter cancer, pheochromocytoma/paraganglioma syndrome 2, pheochromocytoma/paraganglioma syndrome 5, infiltrating urothelial carcinoma, urothelial carcinoma

Subtypes (8): kidney sarcoma, mesoblastic nephroma, renal carcinoma, kidney Wilms tumor, Graham-Boyle-Troxell syndrome, malignant mixed epithelial stromal tumor of the kidney, childhood malignant kidney neoplasm, malignant renal pelvis neoplasm

Genetics & variants

GWAS landscape

23 GWAS associations across 17 studies. Top hits map to 14 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs7105934	8e-25	LINC02956 - LINC02953	G	0.27
rs9811908	3e-18	BRK1	G	0.45
chr3:10168864	1e-14		A	0.42
rs10803392	7e-13	DNAJC16	C	0.13
rs7546668	6e-12	DNAJC16	G	0.12
rs12814794	2e-11	SSPN-AS1, SSPN	G	0.14
rs149401382	1e-09	ZNF606-AS1, VN2R19P, VN2R19P	A	2.5
rs112248293	3e-09	RORA	A	1.82
rs141862746	1e-08	MCPH1	T	4.33
chr10:83754296	2e-08		C	1.47
rs184150292	4e-08	CEP350	?
rs138040332	1e-07	CARD9	T	2.1
rs2556575	1e-07	FABP12	G	1.32
rs371165304	2e-07	RPS2P2 - SYNDIG1L	?
rs117037288	3e-07	RPL37P2 - UNC93B5	T	5.09
rs73045247	4e-07	KIF19BP	G	1.54
rs7939721	5e-07	LINC02956 - LINC02953	C	1.56
rs556301564	7e-07	PDCD6IP	A	1.65

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475595	Verma A	2024	6,344	443,213	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475597	Verma A	2024	5,875	443,897	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475594	Verma A	2024	1,817	119,638	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479808	Verma A	2024	1,817	119,638	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475596	Verma A	2024	1,739	119,754	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479806	Verma A	2024	1,739	119,754	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90503278	Wilcox N	2025	1,671	417,636	The contribution of coding variants to the heritability of multiple cancer types using UK Biobank whole-exome sequencing data.
GCST90079610	Backman JD	2021	1,355	386,525	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083596	Backman JD	2021	1,355	386,525	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90011818	Rashkin SR	2020	1,338	410,350	Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	18

MAF distribution

Bucket	Variants
common (>=0.05)	8
low_freq (0.01-0.05)	5
rare (<0.01)	1
unknown	4

Functional consequences

Consequence	Count
intron_variant	13
intergenic_variant	2
unknown	2
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7105934	11	69424973	G>A,C,T	0.181	intergenic_variant	LINC02956 - LINC02953	8e-25	Tier 4: intronic/intergenic
rs9811908	3	10119721	G>A,T	0.018	intron_variant	BRK1	3e-18	Tier 4: intronic/intergenic
chr3:10168864				0.089			1e-14	Tier 4: intronic/intergenic
rs10803392	1	15550263	C>A,G,T	0.279	intron_variant	DNAJC16	7e-13	Tier 4: intronic/intergenic
rs7546668	1	15528628	G>A,C	0.294	intron_variant	DNAJC16	6e-12	Tier 4: intronic/intergenic
rs12814794	12	26287765	G>A	0.263	intron_variant	SSPN-AS1, SSPN	2e-11	Tier 4: intronic/intergenic
rs149401382	19	58014836	G>A	0.01	intron_variant	ZNF606-AS1, VN2R19P, VN2R19P	1e-09	Tier 4: intronic/intergenic
rs112248293	15	61208153	G>A,C	0.024	intron_variant	RORA	3e-09	Tier 4: intronic/intergenic
rs141862746	8	6459947	C>T		intron_variant	MCPH1	1e-08	Tier 4: intronic/intergenic
chr10:83754296							2e-08	Tier 4: intronic/intergenic
rs184150292	1	180065465	G>A		intron_variant	CEP350	4e-08	Tier 4: intronic/intergenic
rs138040332	9	136368120	C>T	0.013	intron_variant	CARD9	1e-07	Tier 4: intronic/intergenic
rs2556575	8	81581494	A>G	0.202	intron_variant	FABP12	1e-07	Tier 4: intronic/intergenic
rs371165304	14	74386121	AC>A		intron_variant	RPS2P2 - SYNDIG1L	2e-07	Tier 4: intronic/intergenic
rs117037288	11	67704248	C>T	0.05	intergenic_variant	RPL37P2 - UNC93B5	3e-07	Tier 4: intronic/intergenic
rs73045247	7	2388319	A>G	0.042	intron_variant	KIF19BP	4e-07	Tier 4: intronic/intergenic
rs7939721	11	69419887	C>T	0.05	non_coding_transcript_exon_variant	LINC02956 - LINC02953	5e-07	Tier 4: intronic/intergenic
rs556301564	3	33805371	T>A,G	0.032	intron_variant	PDCD6IP	7e-07	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

0 approved, 25 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Aldesleukin	Phase 3 (in late-stage trials)
Axitinib	Phase 3 (in late-stage trials)
Benmelstobart	Phase 3 (in late-stage trials)
Bevacizumab	Phase 3 (in late-stage trials)
Carboplatin	Phase 3 (in late-stage trials)
Catequentinib	Phase 3 (in late-stage trials)
Dactinomycin	Phase 3 (in late-stage trials)
Doxorubicin	Phase 3 (in late-stage trials)
Etoposide	Phase 3 (in late-stage trials)
Everolimus	Phase 3 (in late-stage trials)
Filgrastim	Phase 3 (in late-stage trials)
Fluorouracil	Phase 3 (in late-stage trials)
Girentuximab	Phase 3 (in late-stage trials)
INTERFERON ALFA-2A	Phase 3 (in late-stage trials)
Ifosfamide	Phase 3 (in late-stage trials)
Interferon Alfa	Phase 3 (in late-stage trials)
Ipilimumab	Phase 3 (in late-stage trials)
Isotretinoin	Phase 3 (in late-stage trials)
Mannitol	Phase 3 (in late-stage trials)
Medroxyprogesterone Acetate	Phase 3 (in late-stage trials)
Nivolumab	Phase 3 (in late-stage trials)
Sorafenib	Phase 3 (in late-stage trials)
Sunitinib	Phase 3 (in late-stage trials)
Thalidomide	Phase 3 (in late-stage trials)
Vitespen	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): ANTINEOPLASTON A10, Acarbose, Acetaminophen, Alemtuzumab, Alvocidib, Arsenic Trioxide, Atezolizumab, Atorvastatin, Avelumab, Becatecarin, Bortezomib, Busulfan, Cabozantinib, Capecitabine, Capmatinib, Carboxyamidotriazole, Carfilzomib, Cisplatin, Cyclosporine, Fenretinide, Fludarabine Phosphate, Gefitinib, Gemcitabine, Hydromorphone, INTERFERON ALFA-2B, Ibuprofen, Irinotecan, Irofulven, Ketorolac, Keyhole Limpet Hemocyanin, Lenalidomide, Lenvatinib, Lomustine, MUROMONAB-CD3, Melphalan, Methotrexate, Motexafin Gadolinium, Mycophenolate Mofetil, Oxycodone, PEGINTERFERON ALFA-2B, Paclitaxel, Pazopanib, Pembrolizumab, Perflutren, Perifosine, Prednisone, Sargramostim, Semaxanib, Siltuximab, Sulfur Hexafluoride, Tacrolimus Anhydrous, Talabostat, Tanespimycin, Temsirolimus, Tislelizumab, Tretinoin, Triapine, Vandetanib, Zoledronic Acid Anhydrous.

Clinical trials & evidence

Clinical trials

Clinical trials: 510.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	185
PHASE2	173
PHASE1	71
PHASE3	32
PHASE1/PHASE2	31
PHASE4	11
EARLY_PHASE1	7

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05805436	PHASE4	RECRUITING	Preop Laxatives in Robotic Urologic Surgery
NCT06903312	PHASE4	RECRUITING	Primary Tumor Ablation and Outcome in Metastatic Renal Cell Carcinoma Treated With Immunotherapy Combinations.
NCT06934057	PHASE4	RECRUITING	Cabozantinib and Nivolumab Among Older Patients With Renal Cell Carcinoma
NCT00006864	PHASE4	COMPLETED	Interleukin-2 in Treating Patients With Metastatic Kidney Cancer
NCT00365508	PHASE4	COMPLETED	Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking
NCT00666978	PHASE4	COMPLETED	Health Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking
NCT01486550	PHASE4	TERMINATED	Hydroxyethyl Starch and Renal Function After Laparoscopic Nephrectomy
NCT02988219	PHASE4	COMPLETED	Cardiac Arrhythmias in Patients Undergoing Kidney Cancer Surgery Depending on the Anaesthesia Method
NCT03444766	PHASE4	COMPLETED	Study of Nivolumab for Advanced Cancers in India
NCT03824808	PHASE4	TERMINATED	Effect of Perioperative Intravenous Lidocaine Infusion in Robotic-Assisted Urologic Surgery
NCT04162834	PHASE4	COMPLETED	Effect of Papaverine on Renal Artery Blood Flow Volume
NCT05796973	PHASE3	RECRUITING	Measuring Oncological Value of Exercise and Statin
NCT06364631	PHASE3	RECRUITING	CARE1 Pragmatic Clinical Trial
NCT06726421	PHASE3	RECRUITING	Systemic Therapy Alone or With Stereotactic Body Radiotherapy for Oligometastatic Kidney Cancer (STROKER Study)
NCT07338981	PHASE3	NOT_YET_RECRUITING	The Impact of Time-of-day-Dependent Administration of Nivolumab-Ipilimumab (ICI/ICI) Combination on Overall Survival in Adults With Advanced Kidney Cancer: A Pragmatic Multicenter, Randomized Controlled Trial.
NCT00002473	PHASE3	COMPLETED	Kidney-Sparing Surgery Compared With Kidney Removal in Treating Patients With Kidney Cancer
NCT00002610	PHASE3	COMPLETED	Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors
NCT00002611	PHASE3	COMPLETED	Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer
NCT00002641	PHASE3	COMPLETED	Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma
NCT00002737	PHASE3	COMPLETED	Interferon Alfa With or Without Isotretinoin in Treating Patients With Metastatic Kidney Cancer
NCT00002764	PHASE3	COMPLETED	Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma
NCT00003126	PHASE3	COMPLETED	Interleukin-2 in Treating Patients With Stage III or Stage IV Kidney Cancer
NCT00003804	PHASE3	UNKNOWN	Chemotherapy Plus Surgery in Treating Children at Risk of or With Stage I Wilms’ Tumor
NCT00005966	PHASE3	COMPLETED	Interferon Alfa-2b With or Without Thalidomide in Treating Patients With Metastatic or Unresectable Kidney Cancer
NCT00005995	PHASE3	COMPLETED	AE-941 in Treating Patients With Metastatic Kidney Cancer
NCT00018941	PHASE3	COMPLETED	Interleukin-2 in Treating Patients With Metastatic Kidney Cancer
NCT00047138	PHASE3	UNKNOWN	Chemotherapy Before and After Surgery in Treating Children With Wilm’s Tumor
NCT00053807	PHASE3	COMPLETED	Interleukin-2, Interferon Alfa, and Fluorouracil Compared With Observation in Treating Patients Who Have Undergone Surgery for Kidney Cancer
NCT00053820	PHASE3	COMPLETED	Interferon Alfa With or Without Interleukin-2 and Fluorouracil in Treating Patients With Advanced Metastatic Kidney Cancer
NCT00072046	PHASE3	COMPLETED	Interferon Alfa-2b With or Without Bevacizumab in Treating Patients With Advanced Renal Cell Carcinoma (Kidney Cancer)
NCT00087022	PHASE3	COMPLETED	Monoclonal Antibody Therapy (Rencarex®) in Treating Patients Who Have Undergone Surgery for Non-metastatic Kidney Cancer
NCT00126178	PHASE3	TERMINATED	Clinical Trial Studying a Personalized Cancer Vaccine in Patients With Non-metastatic Kidney Cancer
NCT00369564	PHASE3	COMPLETED	Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer
NCT00416429	PHASE3	COMPLETED	Medroxyprogesterone or Interferon and/or Aldesleukin in Treating Patients With Metastatic Kidney Cancer
NCT00416871	PHASE3	COMPLETED	Interleukin-2 and Interferon in Treating Patients With Metastatic Kidney Cancer
NCT00492258	PHASE3	COMPLETED	Sorafenib in Treating Patients at Risk of Relapse After Undergoing Surgery to Remove Kidney Cancer
NCT00540969	PHASE3	TERMINATED	Cryoablation or External-Beam Radiation Therapy in Treating Patients With Painful Bone Metastases
NCT00606632	PHASE3	COMPLETED	Pre-surgical Detection of Clear Cell Renal Cell Carcinoma (ccRCC) Using Radiolabeled G250-Antibody
NCT01099423	PHASE3	UNKNOWN	Immediate Surgery or Surgery After Sunitinib Malate in Treating Patients With Metastatic Kidney Cancer
NCT01120249	PHASE3	COMPLETED	S0931, Everolimus in Treating Patients With Kidney Cancer Who Have Undergone Surgery

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ALDESLEUKIN	4	33
SUNITINIB MALATE	4	11
CYCLOPHOSPHAMIDE ANHYDROUS	4	6
PAZOPANIB	4	6
DACTINOMYCIN	4	5
AXITINIB	4	4
DOXORUBICIN HYDROCHLORIDE	4	4
FILGRASTIM	4	4
PEGINTERFERON ALFA-2B	4	4
SARGRAMOSTIM	4	4
VINCRISTINE SULFATE	4	4
CABOZANTINIB	4	3
ERLOTINIB HYDROCHLORIDE	4	3
IFOSFAMIDE	4	3
IPILIMUMAB	4	3
SORAFENIB TOSYLATE	4	3
TEMSIROLIMUS	4	3
AMIFOSTINE	4	2
ARSENIC TRIOXIDE	4	2
BELZUTIFAN	4	2
CARBOPLATIN	4	2
DENILEUKIN DIFTITOX	4	2
ETOPOSIDE	4	2
GEFITINIB	4	2
ISOTRETINOIN	4	2
NIVOLUMAB	4	2
PERFLUTREN	4	2
TRETINOIN	4	2
ACARBOSE	4	1
AVELUMAB	4	1

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 1 predictive associations from 1 curated evidence items.

Molecular subtype	Therapy	Effect	Level	CIViC
RHEB Y35N	Sirolimus	Resistance	CIViC D	EID6340