Lung carcinoma

Summary

Lung carcinoma (MONDO:0005138) is a cancer (an umbrella term covering 10 Mondo subtypes) with 70 cohort genes (638 GWAS associations across 66 studies; 18 CIViC-evidence somatic drivers; 51 ClinVar predisposition records) and 3,807 clinical trials. The dominant Reactome pathway is Highly calcium permeable nicotinic acetylcholine receptors (4 cohort genes). Molecularly, BRCA1 Mutation OR BRCA2 Mutation confers sensitivity to Olaparib in Lung Carcinoma (CIViC Level B); 33 further subtype–drug associations are mapped below. Top therapeutic interventions include paclitaxel, vinorelbine, and docetaxel anhydrous.

At a glance

• Classification: Cancer
• Umbrella term: 10 Mondo subtypes
• Cohort genes: 70
• GWAS associations: 638
• ClinVar variants: 51
• Clinical trials: 3,807
• Precision-medicine evidence (CIViC): 34 subtype–drug associations

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	lung carcinoma
Mondo ID	MONDO:0005138
EFO	EFO:0001071
DOID	DOID:3905
ICD-11	947165291
NCIT	C4878
UMLS	C0684249
MedGen	195765
Anatomy (UBERON)	UBERON:0002048
Is cancer (heuristic)	yes

Also known as: cancer of lung · cancer of the lung · carcinoma of lung · carcinoma of the lung · lung cancer · lung cancer, NOS · lung carcinoma

Data availability: 51 ClinVar variants · 638 GWAS associations (66 studies) · 39 cell lines.

Disease family

An umbrella term covering 10 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › carcinoma › lung carcinoma

Related subtypes (48): retroperitoneum carcinoma, head and neck carcinoma, peritoneal carcinoma, neuroendocrine carcinoma, laryngeal carcinoma, bone carcinoma, carcinoma ex pleomorphic adenoma, scrotal carcinoma, skin carcinoma, malignant myoepithelioma, trachea carcinoma, epithelial-myoepithelial carcinoma, lipid-rich carcinoma, comedocarcinoma, in situ carcinoma, adenocarcinoma, urinary bladder carcinoma, breast carcinoma, squamous cell carcinoma, prostate carcinoma, renal carcinoma, uterine carcinoma, vulvar carcinoma, large cell carcinoma, undifferentiated carcinoma, basaloid carcinoma, cribriform carcinoma, digestive system carcinoma, fallopian tube carcinoma, penile carcinoma, sarcomatoid carcinoma, thymic carcinoma, transitional cell carcinoma, ureter carcinoma, papillary carcinoma, Krebs 2 carcinoma, thyroid gland carcinoma, vaginal carcinoma, choroid plexus carcinoma, malignant epithelial tumor of ovary, mucin-producing carcinoma, basal cell carcinoma, carcinoma of urethra, combined carcinoid and adenocarcinoma, secondary carcinoma, invasive carcinoma, glycogen-rich carcinoma, lymph node carcinoma

Subtypes (10): bronchogenic carcinoma, asbestos-related lung carcinoma, lung hilum carcinoma, lung carcinoma in situ, squamous cell lung carcinoma, non-small cell lung carcinoma, combined lung carcinoma, lung inflammatory myofibroblastic tumor, small cell lung carcinoma, lung epithelial-myoepithelial carcinoma

Genetics & variants

GWAS landscape

638 GWAS associations across 66 studies. Top hits map to 30 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs55781567	6e-106	CHRNA5	?	0.19
rs2853677	1e-97	TERT	?	0.19
chr15:78601997	3e-65		A	0.27
rs577626090	1e-63	CHRNA5	D	1.29
rs16969968	2e-54	CHRNA5	A	0.22
rs11639372	3e-52	CHRNB4	T	1.2
rs1051730	3e-52	CHRNA3	T	1.34
rs7726159	1e-46	TERT	A	1.42
rs61655864	6e-37	CHRNA5	D	0.81
rs36108040	5e-35	TPRG1 - TP63	?	0.1
rs11200014	8e-35	FGFR2	A
rs4886591	4e-34	ADAMTS7	A	1.17
rs380286	2e-32	CLPTM1L	G	1.15
chr15:78771801	2e-28		G	0.17
rs12601991	7e-28	HNF1B	T
rs2736100	1e-27	TERT	C	1.27
rs56113850	8e-27	CYP2A6	?	0.08
rs8034191	3e-26	HYKK	?	1.29
rs4488809	7e-26	TP63	C	1.26
rs11607355	1e-21	JAML	T	0.08
rs11196063	2e-21	VTI1A	C	1.27
chr5:1287194	1e-20		?	0.25
rs2413932	7e-20	SECISBP2L - COPS2	T	0.08
rs11571833	2e-19	BRCA2	T	1.83
rs1885281	2e-19	VTI1A	A	0.08
rs116822326	5e-19	HCP5	G	1.15
rs116551911	7e-19	DDR1	T	1.18
rs115870917	7e-19	SUMO2P1 - MOG	C	1.2
rs147680653	7e-19	HLA-F-AS1	G	1.22
rs501942	8e-19	SLC44A4	T	1.19

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST005267	Zuber V	2018	32,405	59,059	Identification of shared genetic variants between schizophrenia and lung cancer.
GCST004748	McKay JD	2017	29,266	56,450	Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
GCST90134661	Byun J	2022	26,683	25,278	Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer.
GCST004749	McKay JD	2017	23,223	16,964	Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
GCST011656	Dai J	2019	20,871	15,971	Genome-wide association study of INDELs identified four novel susceptibility loci associated with lung cancer risk.
GCST001638	Timofeeva MN	2012	14,900	29,485	Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.
GCST003325	Wang Z	2016	6,877	6,277	Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women.
GCST001740	Lan Q	2012	5,510	4,544	Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
GCST000257	Wang Y	2008	5,095	5,200	Common 5p15.33 and 6p21.33 variants influence lung cancer risk.
GCST003587	Fehringer G	2016	5,020	61,820	Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	3
Tier 2: splice/UTR	3
Tier 3: regulatory	1
Tier 4: intronic/intergenic	43

MAF distribution

Bucket	Variants
common (>=0.05)	48
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	31
intergenic_variant	7
unknown	3
5_prime_UTR_variant	2
missense_variant	2
synonymous_variant	2
stop_gained	1
3_prime_UTR_variant	1
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs55781567	15	78565644	C>G	0.05	5_prime_UTR_variant	CHRNA5	6e-106	Tier 2: splice/UTR
rs2853677	5	1287079	G>A,C,T	0.05	intron_variant	TERT	1e-97	Tier 4: intronic/intergenic
chr15:78601997				0.328			3e-65	Tier 4: intronic/intergenic
rs577626090	15	78567264	AAAAAGAAAAG>A,AAAAAG,AAAAAGAAAAGAAAAG	0.37	intron_variant	CHRNA5	1e-63	Tier 4: intronic/intergenic
rs16969968	15	78590583	G>A	0.331	missense_variant	CHRNA5	2e-54	Tier 1: coding
rs11639372	15	78674313	C>T	0.409	intron_variant	CHRNB4	3e-52	Tier 4: intronic/intergenic
rs1051730	15	78601997	G>A,C,T	0.05	synonymous_variant	CHRNA3	3e-52	Tier 4: intronic/intergenic
rs7726159	5	1282204	C>A	0.38	intron_variant	TERT	1e-46	Tier 4: intronic/intergenic
rs61655864	15	78574381	CAAAAAAA>C,CAA,CAAA,CAAAA,CAAAAA,CAAAAAA,CAAAAAAAA,CAAAAAAAAA,CAAAAAAAAAA,CAAAAAAAAAAAAAAAA	0.29	intron_variant	CHRNA5	6e-37	Tier 4: intronic/intergenic
rs36108040	3	189618055	A>G	0.05	intron_variant	TPRG1 - TP63	5e-35	Tier 4: intronic/intergenic
rs11200014	10	121575416	G>A,T	0.05	intron_variant	FGFR2	8e-35	Tier 4: intronic/intergenic
rs4886591	15	78782176	G>A,C	0.437	intron_variant	ADAMTS7	4e-34	Tier 4: intronic/intergenic
rs380286	5	1320132	G>A	0.423	intron_variant	CLPTM1L	2e-32	Tier 4: intronic/intergenic
chr15:78771801				0.427			2e-28	Tier 4: intronic/intergenic
rs12601991	17	37741642	T>A,G	0.05	intron_variant	HNF1B	7e-28	Tier 4: intronic/intergenic
rs2736100	5	1286401	C>A,G,T	0.41	intron_variant	TERT	1e-27	Tier 4: intronic/intergenic
rs56113850	19	40847202	T>C	0.05	intron_variant	CYP2A6	8e-27	Tier 4: intronic/intergenic
rs8034191	15	78513681	T>C	0.05	intron_variant	HYKK	3e-26	Tier 4: intronic/intergenic
rs4488809	3	189638472	T>C	0.47	intron_variant	TP63	7e-26	Tier 4: intronic/intergenic
rs11607355	11	118222832	C>T	0.05	intron_variant	JAML	1e-21	Tier 4: intronic/intergenic
rs11196063	10	112700254	A>C	0.28	intron_variant	VTI1A	2e-21	Tier 4: intronic/intergenic
chr5:1287194							1e-20	Tier 4: intronic/intergenic
rs2413932	15	49091284	C>T	0.05	intergenic_variant	SECISBP2L - COPS2	7e-20	Tier 4: intronic/intergenic
rs11571833	13	32398489	A>T	0.011	stop_gained	BRCA2	2e-19	Tier 1: coding
rs1885281	10	112733139	A>G,T	0.05	intron_variant	VTI1A	2e-19	Tier 4: intronic/intergenic
rs116822326	6	31466334		0.161	intron_variant	HCP5	5e-19	Tier 4: intronic/intergenic
rs116551911	6	30896502		0.112	intron_variant	DDR1	7e-19	Tier 4: intronic/intergenic
rs115870917	6	29639324		0.088	intron_variant	SUMO2P1 - MOG	7e-19	Tier 4: intronic/intergenic
rs147680653	6	29785031		0.083	intron_variant	HLA-F-AS1	7e-19	Tier 4: intronic/intergenic
rs501942	6	31872700	C>A,T	0.099	intron_variant	SLC44A4	8e-19	Tier 4: intronic/intergenic

ClinVar germline variants

51 retrieved; paginated sample, class counts are floors:

16 conflicting classifications of pathogenicity, 12 uncertain significance, 8 pathogenic, 5 pathogenic/likely pathogenic, 5 likely benign, 2 drug response, 1 likely pathogenic, 1 benign, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
627530	t(2;3)(p12;p14.3)	ALK	Pathogenic	no assertion criteria provided
13981	NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	BRAF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
29805	NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	BRAF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
29807	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	BRAF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
40347	NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)	BRAF	Pathogenic	reviewed by expert panel
44811	NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)	BRAF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1703	NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	ERCC6	Pathogenic	criteria provided, multiple submitters, no conflicts
190163	NM_000124.4(ERCC6):c.2830-2A>G	ERCC6	Pathogenic	criteria provided, multiple submitters, no conflicts
12587	NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	KRAS	Pathogenic	reviewed by expert panel
39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
6621	NM_002716.5(PPP2R1B):c.269G>A (p.Gly90Asp)	PPP2R1B	Pathogenic	no assertion criteria provided
7050	NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	PRKN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
6978	NM_002555.6(SLC22A18):c.698C>T (p.Ser233Phe)	SLC22A18	Pathogenic	no assertion criteria provided
12578	NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)	KRAS	Likely pathogenic	criteria provided, single submitter
163335	NM_005228.5(EGFR):c.2126A>G (p.Glu709Gly)	EGFR	drug response	criteria provided, single submitter
16609	NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg)	EGFR	drug response	reviewed by expert panel
372564	NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)	BRAF	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
128059	NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)	CHEK2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
45280	NM_005228.5(EGFR):c.2504A>T (p.His835Leu)	EGFR	Conflicting classifications of pathogenicity	no assertion criteria provided
45282	NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)	EGFR	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
584686	NM_005228.5(EGFR):c.509G>A (p.Ser170Asn)	EGFR	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
802312	NM_005228.5(EGFR):c.59C>A (p.Pro20Gln)	EGFR	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
802313	NM_005228.5(EGFR):c.551T>A (p.Leu184Gln)	EGFR	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
802314	NM_005228.5(EGFR):c.551T>C (p.Leu184Pro)	EGFR	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
802317	NM_005228.5(EGFR):c.1840G>A (p.Gly614Ser)	EGFR	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
802320	NM_005228.5(EGFR):c.2896A>G (p.Ile966Val)	EGFR	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
208821	NM_005228.5(EGFR):c.2305G>A (p.Val769Met)	EGFR-AS1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
802319	NM_005228.5(EGFR):c.2469+8G>A	EGFR-AS1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
190156	NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)	ERCC6	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
190164	NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)	ERCC6	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 132 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 1

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
CHEK2	CHEK2	GWAS, Orphanet

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
BRCA2	LoF	BLCA,BRCA,CESC,CHOL,HCC,HNSC,LUSC,MBL,OVT,PAAD,PRAD,PROSTATE,RCC,VULVA	CIViC #7
CHEK2	Act	BRCA	CIViC #8950
EGFR	Act	BRCA,COADREAD,GB,GBM,HGGNOS,LGGNOS,LUAD,LUSC,NSCLC,PAST,PCM,READ,SIC	CIViC #19
KRAS	Act	ALL,AML,ANSC,BLADDER,BLCA,BRCA,CEAD,CESC,CHOL,CLLSLL,COAD,COADREAD,DLBCLNOS,EGC,ESCA,ESCC,HCC,LUAD,LUSC,MEL,MGCT,MT,NSCLC,OVT,PAAD,PANCREAS,PAST,PCM,PRAD,PRCC,READ,STAD,STOMACH,UCEC,UCS,WDTC	CIViC #30
BRCA1	LoF	BLCA,BRCA,MEL,OVT	CIViC #6
TP53	LoF	ACC,ALL,AML,ANGS,ANSC,BCC,BL,BLADDER,BLCA,BRCA,CCRCC,CEAD,CESC,CHOL,CHRCC,CLLSLL,COAD,COADREAD,CSCC,DLBCLNOS,EGC,ES,ESCA,ESCC,GB,GBC,GBM,GIST,HCC,HGGNOS,HNSC,LGGNOS,LIPO,LMS,LNM,LUAD,LUSC,MBL,MEL,MLYM,MT,NBL,NETNOS,NHL,NPC,NSCLC,OS,OVT,PAAD,PANCREAS,PAST,PCM,PLMESO,PRAD,PRCC,PROSTATE,RCC,READ,SACA,SARCNOS,SCLC,SIC,SKCM,SKIN,SOFT_TISSUE,STAD,STOMACH,THYM,UCEC,UCS,UTUC,VULVA,WDTC,WT	CIViC #45
SLTM	Act	CCRCC,LGGNOS,LUAD,NSCLC,OS,PRCC,RCC	CIViC #52
NQO1			CIViC #1463
ERBB2	Act	BLCA,BRCA,CESC,CHOL,COADREAD,EGC,ESCA,ESCC,LMS,LUAD,NSCLC,OVT,PRCC,READ,STAD,UCEC	CIViC #20
ETV4	Act	NBL	CIViC #1767
ROS1	LoF	HCC,HNSC,OVT,PRAD,STAD	CIViC #4941
BRAF	Act	BLCA,BRCA,CHOL,CLLSLL,COAD,COADREAD,CSCC,DLBCLNOS,GBM,GIST,HGGNOS,LGGNOS,LUAD,MEL,MLYM,NSCLC,OVT,PAST,PCM,PRAD,PRCC,PROSTATE,READ,SACA,SKCM,STAD,UCEC,WDTC	CIViC #5
SOX9	LoF	COAD,COADREAD
STAT1			CIViC #5514
STAT6	Act	DLBCLNOS,MLYM,NHL	CIViC #5520
TERT	Act	PRCC	CIViC #79
TP53BP1			CIViC #5852
WNK1			CIViC #14591

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
BRCA2	Orphanet:1331	Familial prostate cancer
BRCA2	Orphanet:1333	Familial pancreatic carcinoma
BRCA2	Orphanet:145	Hereditary breast and/or ovarian cancer syndrome
BRCA2	Orphanet:178	Chordoma
BRCA2	Orphanet:227535	Hereditary breast cancer
BRCA2	Orphanet:319462	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
BRCA2	Orphanet:440437	Familial colorectal cancer Type X
BRCA2	Orphanet:654	Nephroblastoma
BRCA2	Orphanet:667662	Breast implant-associated anaplastic large cell lymphoma
BRCA2	Orphanet:694963	Inflammatory breast cancer
BRCA2	Orphanet:70567	Cholangiocarcinoma
BRCA2	Orphanet:84	Fanconi anemia
CHEK2	Orphanet:1331	Familial prostate cancer
CHEK2	Orphanet:145	Hereditary breast and/or ovarian cancer syndrome
CHEK2	Orphanet:440437	Familial colorectal cancer Type X
CHEK2	Orphanet:524	Li-Fraumeni syndrome
CHEK2	Orphanet:668	Osteosarcoma
EGFR	Orphanet:251576	Gliosarcoma
EGFR	Orphanet:251579	Giant cell glioblastoma
KRAS	Orphanet:1333	Familial pancreatic carcinoma
KRAS	Orphanet:1340	Cardiofaciocutaneous syndrome
KRAS	Orphanet:144	Lynch syndrome
KRAS	Orphanet:146	Differentiated thyroid carcinoma
KRAS	Orphanet:2396	Encephalocraniocutaneous lipomatosis
KRAS	Orphanet:251615	Pilomyxoid astrocytoma
KRAS	Orphanet:2612	Linear nevus sebaceus syndrome
KRAS	Orphanet:268114	RAS-associated autoimmune leukoproliferative disease
KRAS	Orphanet:3339	Oculoectodermal syndrome
KRAS	Orphanet:648	Noonan syndrome
KRAS	Orphanet:86834	Juvenile myelomonocytic leukemia
BRCA1	Orphanet:1331	Familial prostate cancer
BRCA1	Orphanet:1333	Familial pancreatic carcinoma
BRCA1	Orphanet:145	Hereditary breast and/or ovarian cancer syndrome
BRCA1	Orphanet:168829	Primary peritoneal carcinoma
BRCA1	Orphanet:227535	Hereditary breast cancer
BRCA1	Orphanet:667662	Breast implant-associated anaplastic large cell lymphoma
BRCA1	Orphanet:694963	Inflammatory breast cancer
BRCA1	Orphanet:70567	Cholangiocarcinoma
BRCA1	Orphanet:84	Fanconi anemia
TP53	Orphanet:1333	Familial pancreatic carcinoma
TP53	Orphanet:145	Hereditary breast and/or ovarian cancer syndrome
TP53	Orphanet:1501	Adrenocortical carcinoma
TP53	Orphanet:210159	Adult hepatocellular carcinoma
TP53	Orphanet:251576	Gliosarcoma
TP53	Orphanet:251579	Giant cell glioblastoma
TP53	Orphanet:251899	Choroid plexus carcinoma
TP53	Orphanet:2807	Papilloma of choroid plexus
TP53	Orphanet:293199	Pleomorphic rhabdomyosarcoma
TP53	Orphanet:3318	Essential thrombocythemia
TP53	Orphanet:524	Li-Fraumeni syndrome

Cohort genes → proteins

70 cohort genes, 66 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	58
gwas_and_clinvar	1
civic_only	6
multi_evidence	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
BRCA2	HGNC:1101	ENSG00000139618	P51587	Breast cancer type 2 susceptibility protein	gwas,civic_evidence
CHEK2	HGNC:16627	ENSG00000183765	O96017	Serine/threonine-protein kinase Chk2	gwas,clinvar
EGFR	HGNC:3236	ENSG00000146648	P00533	Epidermal growth factor receptor	clinvar,civic_evidence
KRAS	HGNC:6407	ENSG00000133703	P01116	GTPase KRas	clinvar,civic_evidence
BRCA1	HGNC:1100	ENSG00000012048	P38398	Breast cancer type 1 susceptibility protein	civic_evidence
TP53	HGNC:11998	ENSG00000141510	P04637	Cellular tumor antigen p53	civic_evidence
SLTM	HGNC:20709	ENSG00000137776	Q9NWH9	SAFB-like transcription modulator	civic_evidence
NQO1	HGNC:2874	ENSG00000181019	P15559	NAD(P)H dehydrogenase [quinone] 1	civic_evidence
ERBB2	HGNC:3430	ENSG00000141736	P04626	Receptor tyrosine-protein kinase erbB-2	civic_evidence
ETV4	HGNC:3493	ENSG00000175832	P43268	ETS translocation variant 4	civic_evidence
TRIM38	HGNC:10059	ENSG00000112343	O00635	E3 ubiquitin-protein ligase TRIM38	gwas
ROS1	HGNC:10261	ENSG00000047936	P08922	Proto-oncogene tyrosine-protein kinase ROS	gwas
XCL2	HGNC:10646	ENSG00000143185	Q9UBD3	Cytokine SCM-1 beta	gwas
SHOX2	HGNC:10854	ENSG00000168779	O60902	Short stature homeobox protein 2	gwas
SIX2	HGNC:10888	ENSG00000170577	Q9NPC8	Homeobox protein SIX2	gwas
SIX3	HGNC:10889	ENSG00000138083	O95343	Homeobox protein SIX3	gwas
SLC12A7	HGNC:10915	ENSG00000113504	Q9Y666	Solute carrier family 12 member 7	gwas
SLC17A4	HGNC:10932	ENSG00000146039	Q9Y2C5	Probable small intestine urate exporter	gwas
SLC67A1	HGNC:10964	ENSG00000110628	Q96BI1	Solute carrier family 67 member A1	clinvar
BRAF	HGNC:1097	ENSG00000157764	P15056	Serine/threonine-protein kinase B-raf	clinvar
SLK	HGNC:11088	ENSG00000065613	Q9H2G2	STE20-like serine/threonine-protein kinase	gwas
SNRPA1	HGNC:11152	ENSG00000131876	P09661	U2 small nuclear ribonucleoprotein A'	gwas
SOX9	HGNC:11204	ENSG00000125398	P48436	Transcription factor SOX-9	gwas
SP3	HGNC:11208	ENSG00000172845	Q02447	Transcription factor Sp3	gwas
SP4	HGNC:11209	ENSG00000105866	Q02446	Transcription factor Sp4	gwas
TRIM21	HGNC:11312	ENSG00000132109	P19474	E3 ubiquitin-protein ligase TRIM21	gwas
BTN2A1	HGNC:1136	ENSG00000112763	Q7KYR7	Butyrophilin subfamily 2 member A1	gwas
STAT1	HGNC:11362	ENSG00000115415	P42224	Signal transducer and activator of transcription 1-alpha/beta	gwas
STAT6	HGNC:11368	ENSG00000166888	P42226	Signal transducer and activator of transcription 6	gwas
BTN3A1	HGNC:1138	ENSG00000026950	O00481	Butyrophilin subfamily 3 member A1	gwas
BTN3A2	HGNC:1139	ENSG00000186470	P78410	Butyrophilin subfamily 3 member A2	gwas
BTNL2	HGNC:1142	ENSG00000204290	Q9UIR0	Butyrophilin-like protein 2	gwas
SYNGR2	HGNC:11499	ENSG00000108639	O43760	Synaptogyrin-2	gwas
HNF1B	HGNC:11630	ENSG00000275410	P35680	Hepatocyte nuclear factor 1-beta	gwas
TERT	HGNC:11730	ENSG00000164362	O14746	Telomerase reverse transcriptase	gwas
TGM5	HGNC:11781	ENSG00000104055	O43548	Protein-glutamine gamma-glutamyltransferase 5	gwas
TNFAIP6	HGNC:11898	ENSG00000123610	P98066	Tumor necrosis factor-inducible gene 6 protein	gwas
TNXB	HGNC:11976	ENSG00000168477	P22105	Tenascin-X	gwas
TP53BP1	HGNC:11999	ENSG00000067369	Q12888	TP53-binding protein 1	gwas
LINC00470	HGNC:1225	ENSG00000132204	Q9BZP3	Putative uncharacterized protein encoded by LINC00470	gwas
TUB	HGNC:12406	ENSG00000166402	P50607	Tubby protein homolog	gwas
C1S	HGNC:1247	ENSG00000182326	P09871	Complement C1s subcomponent	gwas
TRIM26	HGNC:12962	ENSG00000234127	Q12899	Tripartite motif-containing protein 26	gwas
ZNF184	HGNC:12975	ENSG00000096654	Q99676	Zinc finger protein 184	gwas
ZNF204P	HGNC:12995	ENSG00000204789		zinc finger protein 204, pseudogene	gwas
ZSCAN12	HGNC:13172	ENSG00000158691	O43309	Zinc finger and SCAN domain-containing protein 12	gwas
IKZF2	HGNC:13177	ENSG00000030419	Q9UKS7	Zinc finger protein Helios	gwas
POLR1H	HGNC:13182	ENSG00000066379	Q9P1U0	DNA-directed RNA polymerase I subunit RPA12	gwas
NID2	HGNC:13389	ENSG00000087303	Q14112	Nidogen-2	gwas
RBMS3	HGNC:13427	ENSG00000144642	Q6XE24	RNA-binding motif, single-stranded-interacting protein 3	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BRCA2	Breast cancer type 2 susceptibility protein	Involved in double-strand break repair and/or homologous recombination.
CHEK2	Serine/threonine-protein kinase Chk2	Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks.
EGFR	Epidermal growth factor receptor	Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses.
KRAS	GTPase KRas	Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
BRCA1	Breast cancer type 1 susceptibility protein	E3 ubiquitin-protein ligase that specifically mediates the formation of ‘Lys-6’-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage.
TP53	Cellular tumor antigen p53	Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence.
SLTM	SAFB-like transcription modulator	When overexpressed, acts as a general inhibitor of transcription that eventually leads to apoptosis.
NQO1	NAD(P)H dehydrogenase [quinone] 1	Flavin-containing quinone reductase that catalyzes two-electron reduction of quinones to hydroquinones using either NADH or NADPH as electron donors.
ERBB2	Receptor tyrosine-protein kinase erbB-2	Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding.
ETV4	ETS translocation variant 4	Transcriptional activator.
TRIM38	E3 ubiquitin-protein ligase TRIM38	E3 ubiquitin-protein and E3 SUMO-protein ligase that acts as a regulator of innate immunity.
ROS1	Proto-oncogene tyrosine-protein kinase ROS	Receptor tyrosine kinase (RTK) that plays a role in epithelial cell differentiation and regionalization of the proximal epididymal epithelium.
XCL2	Cytokine SCM-1 beta	Chemotactic activity for lymphocytes but not for monocytes or neutrophils.
SHOX2	Short stature homeobox protein 2	May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation.
SIX2	Homeobox protein SIX2	Transcription factor that plays an important role in the development of several organs, including kidney, skull and stomach.
SIX3	Homeobox protein SIX3	Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes.
SLC12A7	Solute carrier family 12 member 7	Mediates electroneutral potassium-chloride cotransport when activated by cell swelling.
SLC17A4	Probable small intestine urate exporter	Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions.
SLC67A1	Solute carrier family 67 member A1	May act as a transporter of organic cations based on a proton efflux antiport mechanism.
BRAF	Serine/threonine-protein kinase B-raf	Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus.
SLK	STE20-like serine/threonine-protein kinase	Mediates apoptosis and actin stress fiber dissolution.
SNRPA1	U2 small nuclear ribonucleoprotein A’	Involved in pre-mRNA splicing as component of the spliceosome.
SOX9	Transcription factor SOX-9	Transcription factor that plays a key role in chondrocytes differentiation and skeletal development.
SP3	Transcription factor Sp3	Transcriptional factor that can act as an activator or repressor depending on isoform and/or post-translational modifications.
SP4	Transcription factor Sp4	Binds to GT and GC boxes promoters elements.
TRIM21	E3 ubiquitin-protein ligase TRIM21	E3 ubiquitin-protein ligase whose activity is dependent on E2 enzymes, UBE2D1, UBE2D2, UBE2E1 and UBE2E2.
STAT1	Signal transducer and activator of transcription 1-alpha/beta	Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors.
STAT6	Signal transducer and activator of transcription 6	Carries out a dual function: signal transduction and activation of transcription.
BTN3A1	Butyrophilin subfamily 3 member A1	Plays a role in T-cell activation and in the adaptive immune response.
BTN3A2	Butyrophilin subfamily 3 member A2	Plays a role in T-cell responses in the adaptive immune response.
BTNL2	Butyrophilin-like protein 2	Negative regulator of T-cell proliferation.
SYNGR2	Synaptogyrin-2	May play a role in regulated exocytosis.
HNF1B	Hepatocyte nuclear factor 1-beta	Transcription factor that binds to the inverted palindrome 5’-GTTAATNATTAAC-3'.
TERT	Telomerase reverse transcriptase	Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes.
TGM5	Protein-glutamine gamma-glutamyltransferase 5	Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
TNFAIP6	Tumor necrosis factor-inducible gene 6 protein	Major regulator of extracellular matrix organization during tissue remodeling.
TNXB	Tenascin-X	Appears to mediate interactions between cells and the extracellular matrix.
TP53BP1	TP53-binding protein 1	Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis.
TUB	Tubby protein homolog	Functions in signal transduction from heterotrimeric G protein-coupled receptors.
C1S	Complement C1s subcomponent	Component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the ad…
TRIM26	Tripartite motif-containing protein 26	E3 ubiquitin-protein ligase which regulates the IFN-beta production and antiviral response downstream of various DNA-encoded pattern-recognition receptors (PRRs).
ZNF184	Zinc finger protein 184	May be involved in transcriptional regulation.
ZSCAN12	Zinc finger and SCAN domain-containing protein 12	May be involved in transcriptional regulation.
IKZF2	Zinc finger protein Helios	Transcription factor, which stabilizes the noninflammatory phenotype of regulatory T cells (Tregs).
POLR1H	DNA-directed RNA polymerase I subunit RPA12	Core component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates.
NID2	Nidogen-2	Cell adhesion glycoprotein which is widely distributed in basement membranes.
RBMS3	RNA-binding motif, single-stranded-interacting protein 3	Binds poly(A) and poly(U) oligoribonucleotides.
ATP8B4	Probable phospholipid-transporting ATPase IM	Component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution…
TCIM	Transcriptional and immune response regulator	Seems to be involved in the regulation of cell growth an differentiation, may play different and opposite roles depending on the tissue or cell type.
ZNF311	Zinc finger protein 311	May be involved in transcriptional regulation.

Protein-family classification

Druggable: 20 · Difficult: 23 · Unknown: 27 · Druggable fraction: 0.29

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	23	2.7×	4e-05
Kinase	7	2.8×	0.052
Antibody/Immunoglobulin	6	2.5×	0.087
Transporter	2	2.2×	0.454
Other/Unknown	27	0.7×	0.999
GPCR	2	0.7×	0.999
Protease	1	0.5×	0.999
Enzyme (other)	2	0.3×	0.999

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
BRCA2	Other/Unknown	no		BRCA2_repeat, NA-bd_OB-fold, BRCA2_OB_1
CHEK2	Kinase	yes	2.7.11.1	FHA_dom, Prot_kinase_dom, Ser/Thr_kinase_AS
EGFR	Kinase	yes	2.7.10.1	Rcpt_L-dom, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom
KRAS	Enzyme (other)	yes	3.6.5.2	Small_GTPase, Small_GTP-bd, Small_GTPase_Ras-type
BRCA1	Transcription factor	no	2.3.2.27	BRCT_dom, Znf_RING, BRCA1
TP53	Transcription factor	no		p53_tumour_suppressor, p53-like_TF_DNA-bd_sf, p53_tetrameristn
SLTM	Other/Unknown	no		RRM_dom, SAP_dom, Nucleotide-bd_a/b_plait_sf
NQO1	Enzyme (other)	yes	1.6.5.2	Flavodoxin_fold, Flavoprotein-like_sf, NAD(P)H_dehydrogenase_qn
ERBB2	Kinase	yes	2.7.10.1	Rcpt_L-dom, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom
ETV4	Other/Unknown	no		Ets_dom, ETS_PEA3_N, WH-like_DNA-bd_sf
TRIM38	Transcription factor	no		Znf_B-box, Znf_RING, B30.2/SPRY
ROS1	Kinase	yes	2.7.10.1	LDLR_classB_rpt, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom
XCL2	Other/Unknown	no		Chemokine_IL8-like_dom, Chemokine_XCL1/XCL2, Interleukin_8-like_sf
SHOX2	Transcription factor	no		HTH_motif, HD, OAR_dom
SIX2	Transcription factor	no		HD, Homeodomain-like_sf, Homeobox_CS
SIX3	Transcription factor	no		HD, Homeodomain-like_sf, SIX1_SD
SLC12A7	Other/Unknown	no		KCL_cotranspt, AA-permease/SLC12A_dom, SLC12A_fam
SLC17A4	Transporter	yes		MFS, MFS_dom, MFS_trans_sf
SLC67A1	Transporter	yes		Tet-R_TetA/multi-R_MdtG-like, MFS, MFS_dom
BRAF	Kinase	yes	2.7.10.2	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, PKC_DAG/PE
SLK	Kinase	yes		Prot_kinase_dom, UVR_dom, Ser/Thr_kinase_AS
SNRPA1	Other/Unknown	no		Leu-rich_rpt, U2A’_phosphoprotein32A_C, LRR_dom_sf
SOX9	Transcription factor	no		HMG_box_dom, Sox_N, HMG_box_dom_sf
SP3	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf
SP4	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, Sp4-like
TRIM21	Transcription factor	no		Znf_B-box, Znf_RING, B30.2/SPRY
BTN2A1	Antibody/Immunoglobulin	yes		B30.2/SPRY, Ig_sub, SPRY_dom
STAT1	Transcription factor	no		SH2, STAT, p53-like_TF_DNA-bd_sf
STAT6	Transcription factor	no		SH2, STAT, p53-like_TF_DNA-bd_sf
BTN3A1	Antibody/Immunoglobulin	yes		B30.2/SPRY, Ig_sub, SPRY_dom
BTN3A2	Antibody/Immunoglobulin	yes		Ig_sub, Ig-like_dom, Ig_V-set
BTNL2	Antibody/Immunoglobulin	yes		Ig_C1-set, Ig_sub, Ig-like_dom
SYNGR2	Other/Unknown	no		Marvel, Synaptogyrin
HNF1B	Transcription factor	no		HD, HNF1b_C, HNF-1_N
TERT	Other/Unknown	no		RT_dom, Telomerase_RT, Telomerase_RBD
TGM5	Antibody/Immunoglobulin	yes	2.3.2.13	Transglutaminase_N, Transglutaminase-like, Transglutaminase_C
TNFAIP6	Other/Unknown	no		Link_dom, CUB_dom, C-type_lectin-like/link_sf
TNXB	Antibody/Immunoglobulin	yes		EGF, Fibrinogen_a/b/g_C_dom, FN3_dom
TP53BP1	Other/Unknown	no		BRCT_dom, Rib_uL2_dom2, 53-BP1_Tudor
LINC00470	Other/Unknown	no
TUB	Other/Unknown	no		Tubby_C, Tubby_N, Tubby_C_CS
C1S	Protease	yes	3.4.21.42	EGF-type_Asp/Asn_hydroxyl_site, Sushi_SCR_CCP_dom, CUB_dom
TRIM26	Transcription factor	no		Znf_B-box, Znf_RING, B30.2/SPRY
ZNF184	Transcription factor	no		KRAB, Znf_C2H2_type, KRAB_dom_sf
ZNF204P	Other/Unknown	no
ZSCAN12	Transcription factor	no		SCAN_dom, Znf_C2H2_type, Znf_C2H2_sf
IKZF2	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, Ikaros_C2H2-ZF
POLR1H	Transcription factor	no		Znf_TFIIS, Rpa12/Rpb9/Rpc10/TFS, DNA-dir_RNA_pol-M_15_CS
NID2	Other/Unknown	no		LDLR_classB_rpt, EGF-type_Asp/Asn_hydroxyl_site, Thyroglobulin_1
RBMS3	Other/Unknown	no		RRM_dom, Hud_Sxl_RNA, Nucleotide-bd_a/b_plait_sf

Expression context

Cohort genes with no expression data: 0.

58 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	1
moderate (6-20)	2
broad (>20)	67
unknown	0

Top tissues across cohort

Tissue	Cohort genes
ventricular zone	9
primordial germ cell in gonad	9
male germ line stem cell (sensu Vertebrata) in testis	8
granulocyte	8
calcaneal tendon	5
mucosa of transverse colon	5
left testis	5
sural nerve	4
buccal mucosa cell	4
testis	4
stromal cell of endometrium	3
right uterine tube	3
spleen	3
right lobe of liver	3
skin of leg	3
zone of skin	3
hair follicle	3
leukocyte	3
bone marrow cell	3
right testis	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BRCA2	184	ubiquitous	marker	male germ line stem cell (sensu Vertebrata) in testis, secondary oocyte, ventricular zone
CHEK2	183	ubiquitous	marker	primordial germ cell in gonad, lower esophagus mucosa, male germ line stem cell (sensu Vertebrata) in testis
EGFR	285	ubiquitous	marker	nipple, gingiva, gingival epithelium
KRAS	298	ubiquitous	marker	trigeminal ganglion, pylorus, nipple
BRCA1	208	ubiquitous	marker	ventricular zone, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad
TP53	223	ubiquitous	marker	ventricular zone, ganglionic eminence, tendon of biceps brachii
SLTM	291	ubiquitous	marker	calcaneal tendon, sural nerve, tibia
NQO1	285	ubiquitous	marker	endometrium epithelium, gall bladder, stromal cell of endometrium
ERBB2	276	ubiquitous	marker	lower esophagus mucosa, right uterine tube, sural nerve
ETV4	171	ubiquitous	marker	primordial germ cell in gonad, type B pancreatic cell, olfactory bulb
TRIM38	285	ubiquitous	marker	cardia of stomach, renal medulla, pylorus
ROS1	79	tissue_specific	marker	upper lobe of left lung, upper lobe of lung, corpus epididymis
XCL2	119	tissue_specific	marker	granulocyte, spleen, blood
SHOX2	167	broad	marker	buccal mucosa cell, lateral nuclear group of thalamus, saphenous vein
SIX2	156	broad	marker	olfactory segment of nasal mucosa, gastrocnemius, parotid gland
SIX3	92	broad	marker	pigmented layer of retina, retina, nasal cavity epithelium
SLC12A7	140	ubiquitous	marker	apex of heart, heart left ventricle, metanephros cortex
SLC17A4	60	tissue_specific	marker	mucosa of transverse colon, jejunal mucosa, rectum
SLC67A1	132	ubiquitous	marker	mucosa of transverse colon, duodenum, right lobe of liver
BRAF	265	ubiquitous	marker	buccal mucosa cell, colonic epithelium, calcaneal tendon
SLK	293	ubiquitous	marker	esophagus squamous epithelium, endothelial cell, amniotic fluid
SNRPA1	141	ubiquitous	marker	left testis, skin of leg, zone of skin
SOX9	274	ubiquitous	marker	ventricular zone, cranial nerve II, hair follicle
SP3	299	ubiquitous	marker	hair follicle, germinal epithelium of ovary, sural nerve
SP4	265	ubiquitous	marker	cerebellar vermis, germinal epithelium of ovary, superficial temporal artery
TRIM21	193	ubiquitous	marker	granulocyte, leukocyte, monocyte
BTN2A1	286	ubiquitous	marker	granulocyte, spleen, cerebellar hemisphere
STAT1	294	ubiquitous	marker	epithelium of nasopharynx, vermiform appendix, mononuclear cell
STAT6	292	ubiquitous	marker	granulocyte, right ovary, left ovary
BTN3A1	272	ubiquitous	marker	granulocyte, spleen, pancreatic ductal cell

Protein interactions among cohort

Intra-cohort edges: 38.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TP53	22,736
EGFR	18,421
KRAS	14,509
ERBB2	9,659
BRCA1	9,064
BRAF	7,394
STAT1	6,459
TERT	5,717
SOX9	4,935
BRCA2	4,839

Intra-cohort edges

A	B	Sources
BRAF	BRCA2	biogrid_interaction
BRAF	EGFR	biogrid_interaction
BRAF	KRAS	biogrid_interaction, intact, string_interaction
BRAF	ROS1	intact
BRAF	TCIM	intact
BRAF	TP53	string_interaction
BRCA1	BRCA2	string_interaction
BRCA1	CHEK2	string_interaction
BRCA1	TP53	string_interaction
BRCA1	TP53BP1	intact, string_interaction
BRCA2	CHEK2	string_interaction
BRCA2	TP53	string_interaction
BTN3A1	BTN3A2	biogrid_interaction, intact
BTN3A2	TRIM21	string_interaction
BTNL2	TSBP1	string_interaction
C6orf15	OR14J1	string_interaction
CDCA7	SP3	string_interaction
CHEK2	TP53	intact, string_interaction
CHEK2	TP53BP1	string_interaction
EGFR	ERBB2	intact, string_interaction
EGFR	STAT1	intact
EGFR	TCIM	intact
EGFR	TRIM21	string_interaction
ERBB2	KRAS	string_interaction
ERBB2	SLK	string_interaction
ERBB2	STAT1	biogrid_interaction
ERBB2	TRIM21	string_interaction
KRAS	ROS1	string_interaction
KRAS	TMEM237	intact
KRAS	TP53	string_interaction
KRAS	TUB	intact
NQO1	TP53	biogrid_interaction, string_interaction
OR14J1	TSBP1	string_interaction
OR14J1	ZNF311	string_interaction
SP3	TP53	biogrid_interaction
TCIM	TP53	intact
TNXB	TSBP1	string_interaction
TP53	TP53BP1	intact, string_interaction

Structural data

PDB: 35 · AlphaFold-only: 31 · No structure: 4

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KRAS	P01116	511
EGFR	P00533	388
TP53	P04637	313
BRAF	P15056	131
MRPL32	Q9BYC8	86
ERBB2	P04626	63
SNRPA1	P09661	50
TP53BP1	Q12888	45
BTN3A1	O00481	44
CHEK2	O96017	38
BRCA1	P38398	33
BTN2A1	Q7KYR7	33
NQO1	P15559	28
TERT	O14746	23
TRIM21	P19474	20
BTN3A2	P78410	18
BRCA2	P51587	14
C1S	P09871	14
STAT1	P42224	10
BAG6	P46379	10
SLK	Q9H2G2	7
STAT6	P42226	7
IKZF2	Q9UKS7	7
POLR1H	Q9P1U0	7
ROS1	P08922	5
TNFAIP6	P98066	5
WNK1	Q9H4A3	5
ETV4	P43268	3
HNF1B	P35680	3
TNXB	P22105	3

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TGM5	O43548	91.68
OR14J1	Q9UGF5	87.60
XPO7	Q9UIA9	87.45
TRIM38	O00635	87.31
SLC67A1	Q96BI1	86.91
BTNL2	Q9UIR0	85.97
SLC17A4	Q9Y2C5	83.87
SLC44A4	Q53GD3	83.79
TRIM26	Q12899	83.49
ATP8B4	Q8TF62	82.12
SYNGR2	O43760	81.52
XCL2	Q9UBD3	81.47
OR2B2	Q9GZK3	79.53
TCIM	Q9NR00	79.01
SIX2	Q9NPC8	75.99
NID2	Q14112	74.40
ZNF184	Q99676	72.56
SCAND3	Q6R2W3	72.39
SIX3	O95343	70.38
ZSCAN12	O43309	70.20
ZSCAN31	Q96LW9	67.96
ZNF311	Q5JNZ3	65.02
TMEM237	Q96Q45	63.79
RBMS3	Q6XE24	63.30
SHOX2	O60902	61.50
LINC00470	Q9BZP3	60.83
SLTM	Q9NWH9	52.38
TSBP1	Q5SRN2	45.58
C6orf15	Q6UXA7	43.65
SP4	Q02446	39.58

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 730. Enrichment computed across 250 evidence-associated genes (139 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 139 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Highly calcium permeable nicotinic acetylcholine receptors	4	36.5×	0.002	CHRNA2, CHRNA3, CHRNA5, CHRNB4
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	4	29.9×	0.002	CHRNA2, CHRNA3, CHRNA5, CHRNB4
Presynaptic nicotinic acetylcholine receptors	4	27.4×	0.002	CHRNA2, CHRNA3, CHRNA5, CHRNB4
Butyrophilin (BTN) family interactions	4	25.3×	0.002	BTN2A1, BTN3A1, BTN3A2, BTNL2
Acetylcholine binding and downstream events	4	23.5×	0.002	CHRNA2, CHRNA3, CHRNA5, CHRNB4
Postsynaptic nicotinic acetylcholine receptors	4	23.5×	0.002	CHRNA2, CHRNA3, CHRNA5, CHRNB4
Signaling by PDGF	5	9.1×	0.021	STAT1, STAT6, COL6A3, COL6A5, COL6A6
PLCG1 events in ERBB2 signaling	2	41.1×	0.079	EGFR, ERBB2
Signaling by ERBB2 ECD mutants	3	14.5×	0.086	EGFR, KRAS, ERBB2
Classical antibody-mediated complement activation	2	27.4×	0.087	C1S, CRP
Highly sodium permeable postsynaptic acetylcholine nicotinic receptors	2	23.5×	0.087	CHRNA3, CHRNB4
RAS signaling downstream of NF1 loss-of-function variants	2	23.5×	0.087	KRAS, SPRED2
Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence	2	23.5×	0.087	BRCA1, TERT
CDH11 homotypic and heterotypic interactions	2	23.5×	0.087	CDH11, CDH8
SLC-mediated bile acid transport	2	23.5×	0.087	SLC44A4, SLC44A1
GRB2 events in ERBB2 signaling	3	13.7×	0.087	EGFR, KRAS, ERBB2
Developmental Lineage of Multipotent Pancreatic Progenitor Cells	3	13.0×	0.087	SOX9, HNF1B, SOX17
SUMOylation of transcription factors	3	12.3×	0.087	SP3, TP53, TP53BP1
Developmental Lineage of Mammary Gland Myoepithelial Cells	3	11.7×	0.087	EGFR, TP63, ERBB2
SHC1 events in ERBB2 signaling	3	10.3×	0.087	EGFR, KRAS, ERBB2
Signaling by ERBB2 TMD/JMD mutants	3	10.3×	0.087	EGFR, KRAS, ERBB2
Collagen chain trimerization	4	7.5×	0.087	COL11A2, COL6A3, COL6A5, COL6A6
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	5	5.3×	0.087	CHEK2, BRCA1, TP53, TP53BP1, BABAM1
Neurotransmitter receptors and postsynaptic signal transmission	6	4.3×	0.087	CHRNA2, CHRNA3, CHRNA5, CHRNB4, TUBA1C, ADCY8
Transmission across Chemical Synapses	7	3.8×	0.087	CACNA2D3, CHRNA2, CHRNA3, CHRNA5, CHRNB4, TUBA1C, ADCY8
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)	2	20.5×	0.104	CYP1A2, EPHX2
Acyl chain remodelling of PC	3	9.1×	0.104	MBOAT2, LPCAT1, LPCAT3
Signaling by ERBB2 KD Mutants	3	9.1×	0.104	EGFR, KRAS, ERBB2
Formation of TC-NER Pre-Incision Complex	4	6.1×	0.104	COPS8, COPS2, ERCC2, ERCC6
Neuronal System	9	2.9×	0.104	CACNA2D3, SYT9, CHRNA2, CHRNA3, CHRNA5, CHRNB4, TUBA1C, LRFN2 (+1 more)

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 202 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
synaptic transmission, cholinergic	5	19.9×	0.003	CHRNA2, CHRNA3, CHRNA5, CHRNB4, NQO1
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	6	14.7×	0.003	BRCA2, CHEK2, TP53, BAG6, TP63, ATAD5
regulation of DNA damage checkpoint	4	22.2×	0.012	BRCA2, BRCA1, ETAA1, WDR76
T cell receptor signaling pathway	8	6.0×	0.021	BRAF, BTN2A1, BTN3A1, BTN3A2, BTNL2, WNK1, CD3E, CSK
phosphatidylcholine biosynthetic process	4	15.9×	0.030	SLC44A4, SLC44A1, LPCAT1, LPCAT3
behavioral response to nicotine	3	27.8×	0.033	CHRNA3, CHRNA5, CHRNB4
acetylcholine receptor signaling pathway	4	12.4×	0.052	CHRNA2, CHRNA3, CHRNA5, CHRNB4
positive regulation of gene expression	15	2.9×	0.052	KRAS, BRAF, BRCA1, SOX9, HNF1B, TP53, RBMS3, CD3E (+7 more)
regulation of chondrocyte differentiation	3	20.9×	0.056	SHOX2, SIX2, MBOAT2
regulation of cell population proliferation	8	4.6×	0.056	SIX3, BRAF, SOX9, STAT1, STAT6, CDCA7, PDS5B, CLU
regulation of smooth muscle contraction	3	17.9×	0.064	CHRNA3, CHRNB4, ADRA2C
negative regulation of epithelial cell differentiation	3	17.9×	0.064	KRAS, SIX2, SOX9
positive regulation of stem cell proliferation	4	10.4×	0.064	SHOX2, SOX9, TERT, TP63
phosphatidylcholine acyl-chain remodeling	3	16.7×	0.065	MBOAT2, LPCAT1, LPCAT3
membrane depolarization	4	10.1×	0.065	CHRNA2, CHRNA3, CHRNA5, CHRNB4
retinol metabolic process	4	9.8×	0.065	ADH1B, ADH1C, CYP1A2, SDR9C7
regulation of apoptotic process	9	3.7×	0.066	SLK, SOX9, STAT1, TP53, TP63, CD3E, MORF4L1, CLU (+1 more)
synaptic transmission involved in micturition	2	41.7×	0.066	CHRNA3, CHRNB4
protein phosphorylation	10	3.4×	0.066	CHEK2, ROS1, BRAF, WNK1, MAP3K20, NEK10, COPS8, CSK (+2 more)
suppression of viral release by host	3	14.7×	0.072	TRIM21, TRIM26, TRIM35
replicative senescence	3	14.7×	0.072	CHEK2, TERT, TP53
endocrine pancreas development	3	13.9×	0.075	SOX9, HNF1B, RFX6
reverse cholesterol transport	3	13.9×	0.075	APOM, CLU, ABCA1
embryonic digestive tract morphogenesis	3	13.9×	0.075	SHOX2, SIX2, HNF1B
adenosine to inosine editing	2	33.4×	0.078	ADAR, ADARB2
response to X-ray	3	13.2×	0.078	BRCA2, TP53, ERCC6
epidermal growth factor receptor signaling pathway	5	6.1×	0.078	EGFR, BRAF, SOX9, ADRA2C, ERBB2
DNA damage checkpoint signaling	4	7.8×	0.091	CHEK2, TP53BP1, MAP3K20, ERCC6
mitotic G2/M transition checkpoint	3	11.9×	0.098	BRCA1, ETAA1, BABAM1
endodermal cell fate specification	2	27.8×	0.102	HNF1B, SOX17

Therapeutics

Drugs indicated for this disease

0 approved, 8 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Canakinumab	Phase 3 (in late-stage trials)
Catequentinib	Phase 3 (in late-stage trials)
Cisplatin	Phase 3 (in late-stage trials)
Durvalumab	Phase 3 (in late-stage trials)
Gefitinib	Phase 3 (in late-stage trials)
Pembrolizumab	Phase 3 (in late-stage trials)
Varenicline	Phase 3 (in late-stage trials)
Vinorelbine	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Arsenic Trioxide, Camrelizumab, Dexamethasone, Everolimus, Famitinib, Ferumoxytol, Iloprost, Pasireotide, Porfimer Sodium, Ramucirumab, Rivoceranib, Vitespen.

Drug target analysis

Approved (phase 4): 15 · Phase ≥3: 16 · Phased (≥1): 17 · Undrugged: 53

Druggability breadth: 81 of 250 evidence-associated genes (32%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
CHEK2	NERATINIB
EGFR	LEVODOPA
KRAS	VEMURAFENIB
BRCA1	RIBOFLAVIN
TP53	NITROFURANTOIN
SLTM	CABOZANTINIB
NQO1	DICUMAROL
ERBB2	CLOTRIMAZOLE
ROS1	LORLATINIB
BRAF	VEMURAFENIB
SLK	AFATINIB
STAT1	FILGOTINIB
STAT6	THIORIDAZINE HYDROCHLORIDE
BTN3A1	ZOLEDRONIC ACID
TERT	BERBERINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TP53	196	4
EGFR	175	4
ERBB2	83	4
SLK	81	4
BRAF	48	4
ROS1	41	4
CHEK2	30	4
BRCA1	12	4
KRAS	11	4
STAT6	11	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
NERATINIB	4	CHEK2, EGFR, ERBB2, SLK
BOSUTINIB	4	CHEK2, EGFR, ERBB2, SLK
BRIGATINIB	4	CHEK2, EGFR, ERBB2, ROS1
SUNITINIB	4	CHEK2, EGFR, SLK
GEFITINIB	4	BRAF, CHEK2, EGFR, ERBB2, SLK
LEVODOPA	4	EGFR
CLOTRIMAZOLE	4	EGFR, ERBB2, TP53
ERLOTINIB HYDROCHLORIDE	4	EGFR, ERBB2
CISPLATIN	4	EGFR
PONATINIB	4	BRAF, EGFR, ERBB2
AFATINIB	4	EGFR, ERBB2, SLK
CHROMIC CHLORIDE	4	EGFR
BACITRACIN	4	EGFR
ZINC CHLORIDE	4	EGFR
LAPATINIB DITOSYLATE	4	EGFR, ERBB2
VEMURAFENIB	4	BRAF, EGFR, KRAS
FEDRATINIB	4	BRAF, EGFR, ROS1, SLK
AXITINIB	4	EGFR, ROS1, SLK
SORAFENIB	4	BRAF, EGFR, ERBB2, SLK
DASATINIB ANHYDROUS	4	BRAF, EGFR
NICLOSAMIDE	4	EGFR, TP53
SELUMETINIB	4	EGFR
TERFENADINE	4	EGFR
ALECTINIB	4	EGFR, ROS1
IBRUTINIB	4	EGFR, ERBB2
AFATINIB DIMALEATE	4	EGFR, ERBB2
CABOZANTINIB	4	EGFR, ERBB2, SLTM
DACOMITINIB	4	EGFR, ERBB2
DACOMITINIB ANHYDROUS	4	EGFR, ERBB2
CERITINIB	4	EGFR, ROS1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 10.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
EGFR	6,531	Binding:6211, Functional:173, ADMET:138, Toxicity:9
BRAF	1,442	Binding:1400, Functional:37, ADMET:5
ERBB2	1,221	Binding:1136, Functional:79, ADMET:6
TP53	869	Binding:775, ADMET:83, Functional:10, Toxicity:1
KRAS	861	Binding:829, Functional:32
CHEK2	690	Binding:687, Functional:2, ADMET:1
ROS1	461	Binding:459, Functional:2
TERT	391	Binding:389, Functional:2
SLK	280	Binding:279, Functional:1
NQO1	279	Binding:227, ADMET:48, Functional:4
WNK1	165	Binding:165
STAT1	147	Binding:137, Functional:8, Unclassified:2
STAT6	81	Binding:77, Functional:4
BTN3A1	75	Binding:75
C1S	30	Binding:28, Functional:2
IKZF2	26	Binding:26
TP53BP1	24	Binding:24
SLTM	14	Binding:14
BRCA1	13	Binding:9, Functional:4
SNRPA1	7	Binding:7
SOX9	3	Binding:3
SLC67A1	1	Binding:1
BTN2A1	1	Binding:1
SYNGR2	1	Binding:1
BAG6	1	Binding:1
XPO7	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
CHEK2	2.7.11.1	non-specific serine/threonine protein kinase
EGFR	2.7.10.1	receptor protein-tyrosine kinase
KRAS	3.6.5.2	small monomeric GTPase
BRCA1	2.3.2.27	RING-type E3 ubiquitin transferase
NQO1	1.6.5.2	NAD(P)H dehydrogenase (quinone)
ERBB2	2.7.10.1	receptor protein-tyrosine kinase
ROS1	2.7.10.1	receptor protein-tyrosine kinase
BRAF	2.7.10.2, 2.7.11.1	non-specific protein-tyrosine kinase, non-specific serine/threonine protein kinase
TGM5	2.3.2.13	protein-glutamine gamma-glutamyltransferase
C1S	3.4.21.42	complement subcomponent C1s

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
CHEK2	690
EGFR	6,531
KRAS	861
TP53	869
NQO1	279
ERBB2	1,221
ROS1	461
BRAF	1,442
SLK	280
STAT1	147
TERT	391
WNK1	165

Pharmacogenomics

Cohort genes with a PharmGKB record: 69; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

27 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

Compound	Max phase	Cohort target (bioactivity)
NERATINIB	4	CHEK2, EGFR, ERBB2, SLK
BOSUTINIB	4	CHEK2, EGFR, ERBB2, SLK
BRIGATINIB	4	CHEK2, EGFR, ERBB2, ROS1
SUNITINIB	4	CHEK2, EGFR, SLK
LEVODOPA	4	EGFR
CLOTRIMAZOLE	4	EGFR, ERBB2, TP53
ERLOTINIB HYDROCHLORIDE	4	EGFR, ERBB2
PONATINIB	4	BRAF, EGFR, ERBB2
AFATINIB	4	EGFR, ERBB2, SLK
CHROMIC CHLORIDE	4	EGFR
BACITRACIN	4	EGFR
ZINC CHLORIDE	4	EGFR
LAPATINIB DITOSYLATE	4	EGFR, ERBB2
VEMURAFENIB	4	BRAF, EGFR, KRAS
FEDRATINIB	4	BRAF, EGFR, ROS1, SLK
AXITINIB	4	EGFR, ROS1, SLK
SORAFENIB	4	BRAF, EGFR, ERBB2, SLK
DASATINIB ANHYDROUS	4	BRAF, EGFR
NICLOSAMIDE	4	EGFR, TP53
SELUMETINIB	4	EGFR
TERFENADINE	4	EGFR
IBRUTINIB	4	EGFR, ERBB2
AFATINIB DIMALEATE	4	EGFR, ERBB2
CABOZANTINIB	4	EGFR, ERBB2, SLTM
DACOMITINIB	4	EGFR, ERBB2
DACOMITINIB ANHYDROUS	4	EGFR, ERBB2
CERITINIB	4	EGFR, ROS1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	15	CHEK2, EGFR, KRAS, BRCA1, TP53, SLTM, NQO1, ERBB2, ROS1, BRAF (+5 more)
B	Phased (≥1) drug, not yet approved	2	SNRPA1, C1S
C	Druggable family + PDB, no drug	4	BTN2A1, BTN3A2, TNXB, WNK1
D	Druggable family + AlphaFold only, no drug	6	SLC17A4, SLC67A1, BTNL2, TGM5, OR2B2, OR14J1
E	Difficult family or no structure, no drug	43	BRCA2, ETV4, TRIM38, XCL2, SHOX2, SIX2, SIX3, SLC12A7, SOX9, SP3 (+33 more)

Undrugged target profiles

53 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
BRCA2	0	BRCA1
TRIM21	0	ERBB2
TP53BP1	24	BRCA1, TP53
WNK1	165	—
ETV4	0	—
TRIM38	0	—
XCL2	0	—
SHOX2	0	—
SIX2	0	—
SIX3	0	—
SLC12A7	0	—
SLC17A4	0	—
SLC67A1	1	—
SOX9	3	—
SP3	0	—
SP4	0	—
BTN2A1	1	—
BTN3A2	0	—
BTNL2	0	—
SYNGR2	1	—
HNF1B	0	—
TGM5	0	—
TNFAIP6	0	—
TNXB	0	—
LINC00470	0	—
TUB	0	—
TRIM26	0	—
ZNF184	0	—
ZNF204P	0	—
ZSCAN12	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 3,807.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	651
PHASE3	214
PHASE1/PHASE2	166
PHASE4	37
PHASE2/PHASE3	32

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05463913	PHASE4	RECRUITING	Lung Nodule Detection Using Ultra-long FOV PET/CT
NCT05521789	PHASE4	RECRUITING	Erector Spinae Block for Thoracic Surgery
NCT05525338	PHASE4	RECRUITING	Comparison of Standard Dose Alectinib to Alectinib in Adjusted Dose Based on Alectinib Bloodlevels
NCT05663242	PHASE4	RECRUITING	The Effects of Using Different Anesthetics on the Prognosis of Primary Lung Tumors and Its Mechanism of Action
NCT05926336	PHASE4	RECRUITING	The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action
NCT06105801	PHASE4	RECRUITING	EBUS-TBNA vs Transbronchial Mediastinal Cryobiopsy for Adequacy of Next Generation Sequencing
NCT06276933	PHASE4	NOT_YET_RECRUITING	A Study of Camrelizumab Combined With Chemotherapy ± Thalidomide in First-line Treatment of Patients With Advanced Non-small Cell Lung Cancer (NSCLC)
NCT06646471	PHASE4	RECRUITING	PROspective Master-protocol for Evaluation of Systemic THErapeutics in Elderly With Thoracic Malignancies
NCT07405086	PHASE4	RECRUITING	Morning Versus Afternoon Administration of Immunotherapy for the Treatment of Advanced or Metastatic Solid Tumors, The Knight SHIFT Study
NCT00158041	PHASE4	COMPLETED	Subcutaneous Amifostine Safety Study
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00365508	PHASE4	COMPLETED	Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking
NCT00440960	PHASE4	COMPLETED	Anesthesia in Flexible Bronchoscopy for Lung Cancer Diagnostic
NCT00492843	PHASE4	TERMINATED	Loading Dose or Standard Dose of Intravenous Ibandronate in Treating Patients With Lung Cancer and Skeletal Metastasis
NCT00666978	PHASE4	COMPLETED	Health Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking
NCT00675168	PHASE4	UNKNOWN	Positron Emission Tomography (PET)/Computed Tomography (CT) and Roentgen in Lung Cancer: Evaluation of Patients in General Practice
NCT00712647	PHASE4	COMPLETED	Carotene and Retinol Efficacy Trial
NCT00747773	PHASE4	COMPLETED	Cryospray Ablation of Surgical Resection Specimens To Determine Safety And Histological Effect In The Lung
NCT01060137	PHASE4	COMPLETED	Fentanyl Matrix in Lung Cancer Pain
NCT01381627	PHASE4	UNKNOWN	Safety Evaluation of Dexmedetomidine for EBUS-TBNA
NCT01741506	PHASE4	COMPLETED	Coagulation Profile in Patients Undergoing Video Assisted Thorascopic Surgery (VATS) for Lung Cancer
NCT02246023	PHASE4	COMPLETED	Fractionated Versus Target-controlled Propofol Administration in Bronchoscopy
NCT02275702	PHASE4	COMPLETED	Randomized Study of Preoperative Dexamethasone for Quality of Recovery in VATS Lung Resection Patients
NCT02346318	PHASE4	UNKNOWN	The Randomized Controlled Clinical Trial of Kushen Injection
NCT02476526	PHASE4	COMPLETED	Safety of Low Dose IV Contrast CT Scanning in Chronic Kidney Disease
NCT02490059	PHASE4	COMPLETED	Ultrathin Bronchoscopy for Solitary Pulmonary Nodules
NCT02504801	PHASE4	UNKNOWN	Efficacy of Nebulized Pulmicort Respules in Primary Lung Cancer Patients With COPD
NCT02869789	PHASE4	COMPLETED	An Investigational Immuno-therapy Study for Safety of Nivolumab in Combination With Ipilimumab to Treat Advanced Cancers
NCT03302221	PHASE4	WITHDRAWN	Regional Haemodynamic Changes in Radial Artery Assessment With Continuous Pulsed-wave Doppler Ultrasound
NCT03313544	PHASE4	UNKNOWN	Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting PD-1
NCT03394222	PHASE4	COMPLETED	Effect of Preoperative Budesonide Inhalation on Arterial Blood Oxygenation and Intrapulmonary Shunt During OLV
NCT03570645	PHASE4	COMPLETED	Comparison of the Duration of Ropivacaine Combined With Dexmedetomidine or Dexamethasone on Paravertebral Block
NCT03571126	PHASE4	UNKNOWN	Olanzapine for the Prevention and Treatment of Nausea and Vomiting Induced by Chemotherapy of Lung Cancer
NCT03642457	PHASE4	TERMINATED	Efficacy Between Serratus Plane Block And Local Infiltration In Vats
NCT04145570	PHASE4	COMPLETED	A Single-Dose,ComparativeBioavailability Study ofTwo Formulations ofErlotinib150mgTabletsunderFastingConditions
NCT04155008	PHASE4	TERMINATED	Nutrition and Pharmacological Algorithm for Oncology Patients Study
NCT04613284	PHASE4	UNKNOWN	Rh-Endostatin Combined With CCRT(50 Gy) Followed by Durvalumab Maintenance for the Treatment of Specific Phase III NSCLC
NCT01394679	PHASE3	NOT_YET_RECRUITING	A Phase 3 Study of 99mTC-EC-DG SPECT/CT Versus PET/CT in Lung Cancer
NCT03390686	PHASE3	ACTIVE_NOT_RECRUITING	A Trial to Compare the Efficacy, Safety, Pharmacokinetics and Immunogenicity of HD204 to Avastin® in Advanced Non-squamous Non-small Cell Lung Cancer Patients
NCT03391869	PHASE3	ACTIVE_NOT_RECRUITING	Nivolumab and Ipilimumab With or Without Local Consolidation Therapy in Treating Patients With Stage IV Non-Small Cell Lung Cancer

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PACLITAXEL	4	131
VINORELBINE	4	34
DOCETAXEL ANHYDROUS	4	26
GEMCITABINE	4	25
CARBOPLATIN	4	24
CISPLATIN	4	18
TOPOTECAN HYDROCHLORIDE	4	15
AMIFOSTINE	4	10
ETOPOSIDE	4	10
FLUDEOXYGLUCOSE F 18	4	9
GEFITINIB	4	9
NIVOLUMAB	4	8
VINBLASTINE SULFATE	4	6
IFOSFAMIDE	4	5
MITOMYCIN	4	5
PEGFILGRASTIM	4	5
DOXORUBICIN HYDROCHLORIDE	4	4
ERLOTINIB	4	4
ISOTRETINOIN	4	4
BUPROPION HYDROCHLORIDE	4	3
DALTEPARIN SODIUM	4	3
DEXMEDETOMIDINE	4	3
EPOETIN ALFA	4	3
NICOTINE	4	3
ALECTINIB	4	2
EPIRUBICIN HYDROCHLORIDE	4	2
ETOPOSIDE PHOSPHATE	4	2
FILGRASTIM	4	2
THALIDOMIDE	4	2
VINCRISTINE SULFATE	4	2

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 34 predictive associations from 42 curated evidence items; also 11 oncogenic, 4 prognostic, 2 diagnostic, 1 predisposing.

Molecular subtype	Therapy	Effect	Level	CIViC
BRCA1 Mutation OR BRCA2 Mutation	Olaparib	Sensitivity/Response	CIViC B	EID12765
EGFR Mutation	Gefitinib	Sensitivity/Response	CIViC B	EID2939
EGFR Mutation	Erlotinib	Sensitivity/Response	CIViC B	EID3864
KIF5B::RET Fusion	Selpercatinib	Sensitivity/Response	CIViC B	EID7067
PDCD4 EXPRESSION	Paclitaxel	Sensitivity/Response	CIViC B	EID821
KRAS G12D	Gefitinib	Resistance	CIViC B	EID2240 +4
KRAS G12D	Erlotinib	Resistance	CIViC B	EID3951 +4
KRAS G12	Gefitinib	Resistance	CIViC B	EID2938
KRAS G12A	Gefitinib	Resistance	CIViC B	EID2008
KRAS G12C	Gefitinib	Resistance	CIViC B	EID2257
KRAS G12S	Gefitinib	Resistance	CIViC B	EID2273
TPM3::NTRK1 Fusion	Larotrectinib	Sensitivity/Response	CIViC C	EID11692
KRAS G12A	Erlotinib	Resistance	CIViC C	EID3712
KRAS G12V	Gefitinib	Resistance	CIViC C	EID2268
ROS1 D2033N	Crizotinib	Resistance	CIViC C	EID7685
MET Exon 14 Skipping Mutation	Capmatinib	Adverse Response	CIViC C	EID11459
ATM F858L	Selumetinib	Sensitivity/Response	CIViC D	EID5127
ATM Loss	Trametinib	Sensitivity/Response	CIViC D	EID5126
B2M High Expression	Anti-PD-L1 Monoclonal Antibody	Sensitivity/Response	CIViC D	EID12151
ERBB2 Y772_A775DUP	Afatinib	Sensitivity/Response	CIViC D	EID1047
FGFR1 Amplification	Erdafitinib	Sensitivity/Response	CIViC D	EID7954
FGFR1 Expression	Ponatinib	Sensitivity/Response	CIViC D	EID681
FGFR1 Overexpression	Docetaxel + Rogaratinib	Sensitivity/Response	CIViC D	EID7831
NQO1 P187S	Amrubicin	Sensitivity/Response	CIViC D	EID941
CIC Loss	Trametinib	Resistance	CIViC D	EID5109
CIC Loss	Vemurafenib	Resistance	CIViC D	EID5110
CIC Loss	Selumetinib	Resistance	CIViC D	EID5116
EGFR T790M	Gefitinib + Multikinase Inhibitor AEE788	Resistance	CIViC D	EID642
ERBB2 Amplification AND YES1 Amplification	Neratinib	Resistance	CIViC D	EID12096
ETV1 Overexpression	Trametinib	Resistance	CIViC D	EID5118

+4 more predictive associations (showing top 30 by evidence level).