Malignant colon neoplasm

Summary

Malignant colon neoplasm (MONDO:0021063) is a cancer (an umbrella term covering 9 Mondo subtypes) with 18 cohort genes (15 CIViC-evidence somatic drivers; 32 ClinVar predisposition records) and 1,079 clinical trials. The dominant Reactome pathway is Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) (4 cohort genes). Molecularly, KRAS G13D confers sensitivity to Cetuximab in Colon Cancer (CIViC Level B); 20 further subtype–drug associations are mapped below. Top therapeutic interventions include leucovorin, panitumumab, and tipiracil.

At a glance

• Classification: Cancer
• Umbrella term: 9 Mondo subtypes
• Cohort genes: 18
• ClinVar variants: 32
• Clinical trials: 1,079
• Precision-medicine evidence (CIViC): 21 subtype–drug associations

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	malignant colon neoplasm
Mondo ID	MONDO:0021063
DOID	DOID:219
ICD-10-CM	C18
ICD-11	1265576634
NCIT	C9242
SNOMED CT	363406005
UMLS	C0007102
MedGen	2839
Anatomy (UBERON)	UBERON:0001155
Is cancer (heuristic)	yes

Also known as: cancer of colon · colon cancer · colon neoplasm, malignant · colon tumor, malignant · malignant colon neoplasm · malignant colon tumor · malignant colon tumour · malignant colonic neoplasm · malignant colonic tumor · malignant colonic tumour · malignant neoplasm of colon · malignant neoplasm of the colon · malignant tumor of colon · malignant tumor of the colon · malignant tumour of colon · malignant tumour of the colon

Data availability: 32 ClinVar variants.

Disease family

An umbrella term covering 9 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › intestinal disorder › large intestine disorder › colonic disorder › colonic neoplasm › malignant colon neoplasm

Related subtypes (7): benign colon neoplasm, colon neuroendocrine neoplasm, cecal neoplasm, colon inflammatory polyp, colon juvenile polyp, sigmoid neoplasm, epithelial tumor of colon

Subtypes (9): descending colon cancer, sigmoid colon cancer, colon carcinoma, cecum cancer, colon lymphoma, ascending colon cancer, transverse colon cancer, colon sarcoma, metastasis from malignant tumor of colon

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

32 retrieved; paginated sample, class counts are floors:

10 pathogenic, 7 uncertain significance, 6 conflicting classifications of pathogenicity, 6 pathogenic/likely pathogenic, 1 benign/likely benign, 1 benign, 1 no classifications from unflagged records

ClinVar	Variant (HGVS)	Gene	Classification	Review
1210125	NM_000051.4(ATM):c.3284+1G>T	ATM	Pathogenic	no assertion criteria provided
17094	NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	MLH1	Pathogenic	reviewed by expert panel
17098	NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)	MLH1	Pathogenic	reviewed by expert panel
427760	NM_000249.4(MLH1):c.1336_1337del (p.Ser446fs)	MLH1	Pathogenic	criteria provided, multiple submitters, no conflicts
433851	NM_000249.4(MLH1):c.374C>A (p.Ala125Glu)	MLH1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
455398	NM_000249.4(MLH1):c.1667+1G>A	MLH1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
560011	NM_000249.4(MLH1):c.497dup (p.Leu166fs)	MLH1	Pathogenic	no assertion criteria provided
635950	NC_000003.12:g.36993510_36999509del	MLH1	Pathogenic	criteria provided, single submitter
89857	NM_000249.4(MLH1):c.1731G>A (p.Ser577=)	MLH1	Pathogenic	reviewed by expert panel
90430	NM_000249.4(MLH1):c.887T>G (p.Leu296Ter)	MLH1	Pathogenic	reviewed by expert panel
637008	NM_000251.3(MSH2):c.2382del (p.Pro795fs)	MSH2	Pathogenic	no assertion criteria provided
90670	NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)	MSH2	Pathogenic	reviewed by expert panel
135992	NM_001048174.2(MUTYH):c.849+3A>C	MUTYH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
141595	NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)	MUTYH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
560019	NM_000535.7(PMS2):c.1053del (p.Leu351fs)	PMS2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
236647	NM_000038.6(APC):c.757G>A (p.Gly253Ser)	APC	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
490226	NM_000038.6(APC):c.1803G>C (p.Glu601Asp)	APC	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
128060	NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	CHEK2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
89649	NM_000249.4(MLH1):c.1141C>T (p.His381Tyr)	MLH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
631268	NM_000251.3(MSH2):c.605C>T (p.Pro202Leu)	MSH2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
127960	NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)	XRCC2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
411414	NM_000038.6(APC):c.5026_5028del (p.Arg1676del)	APC	Uncertain significance	criteria provided, multiple submitters, no conflicts
559945	NM_000038.6(APC):c.5478G>C (p.Lys1826Asn)	APC	Uncertain significance	criteria provided, single submitter
559947	NM_000038.6(APC):c.3716G>A (p.Arg1239Lys)	APC	Uncertain significance	criteria provided, multiple submitters, no conflicts
559964	NM_000038.6(APC):c.2986A>G (p.Ser996Gly)	APC	Uncertain significance	criteria provided, single submitter
433865	NM_000249.4(MLH1):c.1238_1239del (p.Thr413fs)	MLH1	no classifications from unflagged records	no classifications from unflagged records
198306	NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)	PKHD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
91351	NM_000535.7(PMS2):c.320G>A (p.Arg107Gln)	PMS2	Uncertain significance	criteria provided, multiple submitters, no conflicts
560020	NM_006231.4(POLE):c.1396A>G (p.Thr466Ala)	POLE	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 71 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
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
ZEB1	Act	GBM,LUAD,LUSC,NPC,PCM,SCLC	CIViC #5649
BIRC7			CIViC #14842
ERBB2	Act	BLCA,BRCA,CESC,CHOL,COADREAD,EGC,ESCA,ESCC,LMS,LUAD,NSCLC,OVT,PRCC,READ,STAD,UCEC	CIViC #20
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
POU5F1			CIViC #4419
CHEK2	Act	BRCA	CIViC #8950
CDH1	LoF	BLCA,BRCA,CSCC,DLBCLNOS,ESCA,STAD	CIViC #888
APC	LoF	AML,ANSC,CHOL,COAD,COADREAD,CSCC,EGC,ESCA,ESCC,HCC,LUAD,MEL,MT,NETNOS,NSCLC,PRAD,PROSTATE,READ,STAD,STOMACH,UM,VULVA	CIViC #66
MLH1			CIViC #3532
MSH2			CIViC #3628
ATM	LoF	BLCA,BRCA,CCRCC,CHOL,CLLSLL,COAD,COADREAD,ESCA,HCC,LUAD,LUSC,MEL,NSCLC,PAAD,PANCREAS,PANET,PCM,PLMESO,PRAD,PROSTATE,STAD,UCEC,UTUC,WDTC	CIViC #69
PMS2	ambiguous	HCC	CIViC #4371
POLD1	LoF	BRCA,ESCA	CIViC #4384
POLE	Act	ACC,BLCA	CIViC #4386

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
BRAF	Orphanet:1340	Cardiofaciocutaneous syndrome
BRAF	Orphanet:146	Differentiated thyroid carcinoma
BRAF	Orphanet:251615	Pilomyxoid astrocytoma
BRAF	Orphanet:389	Langerhans cell histiocytosis
BRAF	Orphanet:500	Noonan syndrome with multiple lentigines
BRAF	Orphanet:54595	Craniopharyngioma
BRAF	Orphanet:58017	Classic hairy cell leukemia
BRAF	Orphanet:626	Large/giant congenital melanocytic nevus
BRAF	Orphanet:648	Noonan syndrome
BRAF	Orphanet:840	Syringocystadenoma papilliferum
BRAF	Orphanet:96253	Cushing disease
ZEB1	Orphanet:98973	Posterior polymorphous corneal dystrophy
ZEB1	Orphanet:98974	Fuchs endothelial corneal dystrophy
ERBB2	Orphanet:213726	Serous carcinoma of the corpus uteri
ERBB2	Orphanet:2800	Extramammary Paget disease
ERBB2	Orphanet:388	Hirschsprung disease
ERBB2	Orphanet:99976	Adenocarcinoma of the oesophagus and oesophagogastric junction
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
XRCC2	Orphanet:227535	Hereditary breast cancer
XRCC2	Orphanet:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
XRCC2	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
CDH1	Orphanet:1331	Familial prostate cancer
CDH1	Orphanet:199306	Cleft lip/palate
CDH1	Orphanet:1997	Blepharo-cheilo-odontic syndrome
CDH1	Orphanet:227535	Hereditary breast cancer
CDH1	Orphanet:26106	Hereditary diffuse gastric cancer
APC	Orphanet:220460	Attenuated familial adenomatous polyposis
APC	Orphanet:261584	5q22 microdeletion syndrome
APC	Orphanet:314022	Gastric adenocarcinoma and proximal polyposis of the stomach
APC	Orphanet:3258	Cenani-Lenz syndrome
APC	Orphanet:873	Desmoid tumor
MLH1	Orphanet:144	Lynch syndrome
MLH1	Orphanet:252202	Constitutional mismatch repair deficiency syndrome
MSH2	Orphanet:144	Lynch syndrome
MSH2	Orphanet:252202	Constitutional mismatch repair deficiency syndrome

Cohort genes → proteins

18 cohort genes, 18 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	6
multi_evidence	12

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
BRAF	HGNC:1097	ENSG00000157764	P15056	Serine/threonine-protein kinase B-raf	civic_evidence
ZEB1	HGNC:11642	ENSG00000148516	P37275	Zinc finger E-box-binding homeobox 1	civic_evidence
BIRC7	HGNC:13702	ENSG00000101197	Q96CA5	Baculoviral IAP repeat-containing protein 7	civic_evidence
ERBB2	HGNC:3430	ENSG00000141736	P04626	Receptor tyrosine-protein kinase erbB-2	civic_evidence
KRAS	HGNC:6407	ENSG00000133703	P01116	GTPase KRas	civic_evidence
POU5F1	HGNC:9221	ENSG00000204531	Q01860	POU domain, class 5, transcription factor 1	civic_evidence
XRCC2	HGNC:12829	ENSG00000196584	O43543	DNA repair protein XRCC2	clinvar
CHEK2	HGNC:16627	ENSG00000183765	O96017	Serine/threonine-protein kinase Chk2	clinvar
CDH1	HGNC:1748	ENSG00000039068	P12830	Cadherin-1	clinvar
APC	HGNC:583	ENSG00000134982	P25054	Adenomatous polyposis coli protein	clinvar
MLH1	HGNC:7127	ENSG00000076242	P40692	DNA mismatch repair protein Mlh1	clinvar
MSH2	HGNC:7325	ENSG00000095002	P43246	DNA mismatch repair protein Msh2	clinvar
MUTYH	HGNC:7527	ENSG00000132781	Q9UIF7	Adenine DNA glycosylase	clinvar
ATM	HGNC:795	ENSG00000149311	Q13315	Serine-protein kinase ATM	clinvar
PKHD1	HGNC:9016	ENSG00000170927	P08F94	Fibrocystin	clinvar
PMS2	HGNC:9122	ENSG00000122512	P54278	Mismatch repair endonuclease PMS2	clinvar
POLD1	HGNC:9175	ENSG00000062822	P28340	DNA polymerase delta catalytic subunit	clinvar
POLE	HGNC:9177	ENSG00000177084	Q07864	DNA polymerase epsilon catalytic subunit A	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BRAF	Serine/threonine-protein kinase B-raf	Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus.
ZEB1	Zinc finger E-box-binding homeobox 1	Acts as a transcriptional repressor.
BIRC7	Baculoviral IAP repeat-containing protein 7	Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control.
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.
KRAS	GTPase KRas	Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
POU5F1	POU domain, class 5, transcription factor 1	Transcription factor that binds to the octamer motif (5’-ATTTGCAT-3’).
XRCC2	DNA repair protein XRCC2	Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions.
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.
CDH1	Cadherin-1	Cadherins are calcium-dependent cell adhesion proteins.
APC	Adenomatous polyposis coli protein	Tumor suppressor.
MLH1	DNA mismatch repair protein Mlh1	Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR).
MSH2	DNA mismatch repair protein Msh2	Component of the post-replicative DNA mismatch repair system (MMR).
MUTYH	Adenine DNA glycosylase	Involved in oxidative DNA damage repair.
ATM	Serine-protein kinase ATM	Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor.
PKHD1	Fibrocystin	Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney.
PMS2	Mismatch repair endonuclease PMS2	Component of the post-replicative DNA mismatch repair system (MMR).
POLD1	DNA polymerase delta catalytic subunit	As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair.
POLE	DNA polymerase epsilon catalytic subunit A	Catalytic component of the DNA polymerase epsilon complex.

Protein-family classification

Druggable: 6 · Difficult: 5 · Unknown: 7 · Druggable fraction: 0.33

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
Kinase	4	6.2×	0.017
Transcription factor	5	2.3×	0.144
Antibody/Immunoglobulin	1	1.6×	0.777
Other/Unknown	7	0.7×	0.954
Enzyme (other)	1	0.7×	0.954

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
BRAF	Kinase	yes	2.7.10.2	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, PKC_DAG/PE
ZEB1	Transcription factor	no		HD, Di19_Zn-bd, Homeodomain-like_sf
BIRC7	Transcription factor	no		BIR_rpt, Znf_RING, Znf_RING/FYVE/PHD
ERBB2	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
POU5F1	Transcription factor	no		POU_dom, HD, Homeodomain-like_sf
XRCC2	Other/Unknown	no		Rad51_C, RecA_ATP-bd, P-loop_NTPase
CHEK2	Kinase	yes	2.7.11.1	FHA_dom, Prot_kinase_dom, Ser/Thr_kinase_AS
CDH1	Other/Unknown	no		Cadherin_Y-type_LIR, Cadherin-like_dom, Cadherin_pro_dom
APC	Other/Unknown	no		Armadillo, APC_rpt, SAMP
MLH1	Other/Unknown	no		MutL/Mlh/PMS, DNA_mismatch_S5_2-like, Ribsml_uS5_D2-typ_fold_subgr
MSH2	Other/Unknown	no		DNA_mismatch_repair_MutS_C, DNA_mismatch_repair_MutS-lik_N, DNA_mismatch_repair_MutS_core
MUTYH	Other/Unknown	no		NUDIX_hydrolase_dom, HhH_motif, HhH-GPD_domain
ATM	Kinase	yes	2.7.11.1	PI3/4_kinase_cat_dom, PIK-rel_kinase_FAT, FATC_dom
PKHD1	Antibody/Immunoglobulin	yes		IPT_dom, PbH1, Pectin_lyase_fold/virulence
PMS2	Other/Unknown	no		MutL/Mlh/PMS, DNA_mismatch_S5_2-like, Ribsml_uS5_D2-typ_fold_subgr
POLD1	Transcription factor	no	2.7.7.7	DNA-dir_DNA_pol_B_exonuc, DNA-dir_DNA_pol_B_multi_dom, DNA-dir_DNA_pol_B
POLE	Transcription factor	no	2.7.7.7	DNA-dir_DNA_pol_B_exonuc, DNA-dir_DNA_pol_B, RNaseH-like_sf

Expression context

Cohort genes with no expression data: 0.

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

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	18
unknown	0

Top tissues across cohort

Tissue	Cohort genes
calcaneal tendon	3
colonic epithelium	3
primordial germ cell in gonad	3
buccal mucosa cell	2
sural nerve	2
lower esophagus mucosa	2
right uterine tube	2
metanephros cortex	2
male germ line stem cell (sensu Vertebrata) in testis	2
ventricular zone	2
cerebellar hemisphere	2
right hemisphere of cerebellum	2
tendon	1
adrenal tissue	1
tibial nerve	1
nipple	1
pylorus	1
trigeminal ganglion	1
lateral globus pallidus	1
tendon of biceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BRAF	265	ubiquitous	marker	buccal mucosa cell, colonic epithelium, calcaneal tendon
ZEB1	287	ubiquitous	marker	calcaneal tendon, colonic epithelium, tendon
BIRC7	109	tissue_specific	marker	adrenal tissue, tibial nerve, sural nerve
ERBB2	276	ubiquitous	marker	lower esophagus mucosa, right uterine tube, sural nerve
KRAS	298	ubiquitous	marker	trigeminal ganglion, pylorus, nipple
POU5F1	132	tissue_specific	marker	primordial germ cell in gonad, right uterine tube, metanephros cortex
XRCC2	283	ubiquitous	marker	buccal mucosa cell, tendon of biceps brachii, lateral globus pallidus
CHEK2	183	ubiquitous	marker	primordial germ cell in gonad, lower esophagus mucosa, male germ line stem cell (sensu Vertebrata) in testis
CDH1	245	broad	marker	jejunal mucosa, esophagus squamous epithelium, gingival epithelium
APC	297	ubiquitous	marker	substantia nigra pars compacta, substantia nigra pars reticulata, medial globus pallidus
MLH1	296	ubiquitous	marker	tibialis anterior, skeletal muscle tissue of rectus abdominis, deltoid
MSH2	278	ubiquitous	marker	secondary oocyte, oocyte, ventricular zone
MUTYH	134	ubiquitous	marker	cerebellar hemisphere, cerebellar cortex, right hemisphere of cerebellum
ATM	286	ubiquitous	marker	calcaneal tendon, colonic epithelium, corpus callosum
PKHD1	51	tissue_specific	marker	kidney epithelium, renal medulla, metanephros cortex
PMS2	143	ubiquitous	marker	thymus, prefrontal cortex, male germ line stem cell (sensu Vertebrata) in testis
POLD1	134	ubiquitous	marker	mucosa of transverse colon, ventricular zone, primordial germ cell in gonad
POLE	221	ubiquitous	marker	right hemisphere of cerebellum, right testis, cerebellar hemisphere

Protein interactions among cohort

Intra-cohort edges: 28.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KRAS	14,509
ERBB2	9,659
CDH1	8,738
BRAF	7,394
ATM	7,383
CHEK2	4,795
MSH2	4,537
MLH1	4,435
ZEB1	4,171
POLD1	4,000

Intra-cohort edges

A	B	Sources
ATM	CHEK2	string_interaction
ATM	MLH1	string_interaction
ATM	MSH2	string_interaction
ATM	ZEB1	biogrid_interaction
BRAF	KRAS	biogrid_interaction, intact, string_interaction
BRAF	MLH1	string_interaction
BRAF	PMS2	string_interaction
BRAF	POLE	intact
CDH1	ERBB2	string_interaction
CDH1	ZEB1	string_interaction
CHEK2	XRCC2	string_interaction
ERBB2	KRAS	string_interaction
MLH1	MSH2	string_interaction
MLH1	MUTYH	string_interaction
MLH1	PMS2	biogrid_interaction, intact, string_interaction
MLH1	POLD1	string_interaction
MLH1	POLE	string_interaction
MSH2	MUTYH	intact, string_interaction
MSH2	PMS2	string_interaction
MSH2	POLD1	string_interaction
MSH2	POLE	string_interaction
MUTYH	PMS2	string_interaction
MUTYH	POLD1	string_interaction
MUTYH	POLE	string_interaction
PMS2	POLD1	string_interaction
PMS2	POLE	string_interaction
PMS2	XRCC2	string_interaction
POLD1	POLE	string_interaction

Structural data

PDB: 17 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KRAS	P01116	511
BRAF	P15056	131
ERBB2	P04626	63
CHEK2	O96017	38
APC	P25054	31
MSH2	P43246	30
CDH1	P12830	22
POLE	Q07864	18
POU5F1	Q01860	16
XRCC2	O43543	16
ATM	Q13315	14
BIRC7	Q96CA5	13
PMS2	P54278	9
MLH1	P40692	7
POLD1	P28340	6
MUTYH	Q9UIF7	3
ZEB1	P37275	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PKHD1	P08F94

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 291. Enrichment computed across 18 evidence-associated genes (17 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 17 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)	4	191.9×	5e-07	MLH1, MSH2, PMS2, POLD1
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)	4	191.9×	5e-07	MLH1, MSH2, PMS2, POLD1
Defective Mismatch Repair Associated With MLH1	2	671.8×	1e-04	MLH1, PMS2
Defective Mismatch Repair Associated With PMS2	2	671.8×	1e-04	MLH1, PMS2
HDR through Homologous Recombination (HRR)	4	44.8×	1e-04	XRCC2, ATM, POLD1, POLE
TP53 Regulates Transcription of DNA Repair Genes	4	42.6×	1e-04	MLH1, MSH2, ATM, PMS2
Diseases of DNA repair	3	100.8×	1e-04	MLH1, MSH2, ATM
Mismatch Repair	2	335.9×	4e-04	MLH1, MSH2
Diseases of Mismatch Repair (MMR)	2	335.9×	4e-04	MLH1, MSH2
Constitutive Signaling by Overexpressed ERBB2	2	112.0×	0.004	ERBB2, KRAS
Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition	2	103.3×	0.004	ZEB1, CDH1
Stabilization of p53	2	89.6×	0.005	CHEK2, ATM
Developmental Lineage of Mammary Stem Cells	2	89.6×	0.005	CDH1, ERBB2
Signaling by ERBB2 ECD mutants	2	79.0×	0.006	ERBB2, KRAS
GRB2 events in ERBB2 signaling	2	74.6×	0.006	ERBB2, KRAS
Regulation of TP53 Activity through Methylation	2	64.0×	0.007	CHEK2, ATM
Developmental Lineage of Mammary Gland Myoepithelial Cells	2	64.0×	0.007	CDH1, ERBB2
PCNA-Dependent Long Patch Base Excision Repair	2	61.1×	0.007	POLD1, POLE
Apoptotic cleavage of cellular proteins	2	56.0×	0.007	CDH1, APC
SHC1 events in ERBB2 signaling	2	56.0×	0.007	ERBB2, KRAS
Apoptotic execution phase	2	56.0×	0.007	CDH1, APC
Signaling by ERBB2 TMD/JMD mutants	2	56.0×	0.007	ERBB2, KRAS
Impaired BRCA2 binding to PALB2	2	53.7×	0.007	XRCC2, ATM
Developmental Lineage of Mammary Gland Luminal Epithelial Cells	2	53.7×	0.007	CDH1, ERBB2
Gap-filling DNA repair synthesis and ligation in GG-NER	2	51.7×	0.007	POLD1, POLE
Signaling by ERBB2 KD Mutants	2	49.8×	0.007	ERBB2, KRAS
Defective homologous recombination repair (HRR) due to BRCA1 loss of function	2	49.8×	0.007	XRCC2, ATM
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function	2	49.8×	0.007	XRCC2, ATM
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function	2	49.8×	0.007	XRCC2, ATM
DNA Repair	3	17.4×	0.007	MLH1, MSH2, ATM

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 18 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of isotype switching to IgA isotypes	3	468.1×	4e-06	MLH1, MSH2, PMS2
mismatch repair	4	144.0×	4e-06	MLH1, MSH2, MUTYH, PMS2
positive regulation of isotype switching to IgG isotypes	3	255.3×	2e-05	MLH1, MSH2, PMS2
somatic hypermutation of immunoglobulin genes	3	175.5×	5e-05	MLH1, MSH2, PMS2
DNA replication proofreading	2	624.1×	2e-04	POLD1, POLE
somatic recombination of immunoglobulin gene segments	2	468.1×	4e-04	MSH2, PMS2
nucleotide-excision repair, DNA gap filling	2	312.1×	8e-04	POLD1, POLE
negative regulation of neuron apoptotic process	4	24.6×	8e-04	BRAF, XRCC2, KRAS, MSH2
intrinsic apoptotic signaling pathway in response to DNA damage	3	54.0×	8e-04	CHEK2, MLH1, ATM
regulation of microtubule-based process	2	208.1×	0.001	ERBB2, APC
meiotic telomere clustering	2	208.1×	0.001	MLH1, ATM
double-strand break repair	3	33.8×	0.003	CHEK2, MSH2, ATM
base-excision repair, gap-filling	2	124.8×	0.003	POLD1, POLE
regulation of autophagosome assembly	2	124.8×	0.003	CHEK2, ATM
protein phosphorylation	4	15.1×	0.003	BRAF, CHEK2, ERBB2, ATM
replicative senescence	2	110.1×	0.003	CHEK2, ATM
DNA synthesis involved in DNA repair	2	104.0×	0.003	POLD1, POLE
mitotic intra-S DNA damage checkpoint signaling	2	104.0×	0.003	CHEK2, MSH2
DNA repair	4	14.2×	0.003	XRCC2, MSH2, MUTYH, POLD1
response to X-ray	2	98.5×	0.003	XRCC2, MSH2
cellular response to stress	2	93.6×	0.003	CHEK2, ATM
isotype switching	2	93.6×	0.003	MLH1, MSH2
signal transduction in response to DNA damage	2	89.2×	0.003	CHEK2, ATM
cellular response to gamma radiation	2	66.9×	0.006	CHEK2, ATM
regulation of ERK1 and ERK2 cascade	2	64.6×	0.006	ERBB2, PKHD1
DNA-templated DNA replication	2	62.4×	0.006	POLD1, POLE
mitotic spindle assembly checkpoint signaling	2	62.4×	0.006	APC, ATM
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	2	55.1×	0.007	CHEK2, MSH2
pattern specification process	2	52.0×	0.008	ZEB1, APC
determination of adult lifespan	2	48.0×	0.009	MSH2, ATM

Therapeutics

Drug target analysis

Approved (phase 4): 6 · Phase ≥3: 6 · Phased (≥1): 7 · Undrugged: 11

Druggability breadth: 14 of 18 evidence-associated genes (78%) 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
BRAF	VEMURAFENIB
ERBB2	CLOTRIMAZOLE
KRAS	VEMURAFENIB
POU5F1	FAMOTIDINE
CHEK2	NERATINIB
ATM	AMIODARONE HYDROCHLORIDE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ERBB2	83	4
BRAF	48	4
ATM	35	4
CHEK2	30	4
KRAS	11	4
BIRC7	3	2
POU5F1	1	4
ZEB1	0	0
XRCC2	0	0
CDH1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
VEMURAFENIB	4	BRAF, KRAS
PONATINIB	4	BRAF, ERBB2
FEDRATINIB	4	BRAF
SORAFENIB	4	BRAF, ERBB2
DASATINIB ANHYDROUS	4	BRAF
RUXOLITINIB	4	BRAF
INFIGRATINIB PHOSPHATE	4	BRAF
INFIGRATINIB	4	BRAF
REGORAFENIB	4	BRAF
DABRAFENIB	4	BRAF, KRAS
COBIMETINIB	4	BRAF
NILOTINIB	4	BRAF
ABEMACICLIB	4	BRAF
ENCORAFENIB	4	BRAF
TOVORAFENIB	4	BRAF
PAZOPANIB	4	BRAF
DASATINIB	4	BRAF, ERBB2
ERLOTINIB	4	BRAF, ERBB2
GEFITINIB	4	BRAF, CHEK2, ERBB2
IMATINIB	4	BRAF, ERBB2
CLOTRIMAZOLE	4	ERBB2
ERLOTINIB HYDROCHLORIDE	4	ERBB2
AFATINIB	4	ERBB2
LAPATINIB DITOSYLATE	4	ERBB2
NERATINIB	4	CHEK2, ERBB2
IBRUTINIB	4	ERBB2
AFATINIB DIMALEATE	4	ERBB2
CABOZANTINIB	4	ERBB2
DACOMITINIB	4	ERBB2
DACOMITINIB ANHYDROUS	4	ERBB2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 7.

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

Symbol	Assays	Type breakdown
BRAF	1,442	Binding:1400, Functional:37, ADMET:5
ERBB2	1,221	Binding:1136, Functional:79, ADMET:6
KRAS	861	Binding:829, Functional:32
CHEK2	690	Binding:687, Functional:2, ADMET:1
ATM	240	Binding:233, Functional:5, ADMET:2
POU5F1	36	Binding:36
APC	24	Binding:24
CDH1	18	Binding:18
BIRC7	14	Binding:13, Functional:1
MSH2	9	Binding:9
POLD1	8	Binding:8
MUTYH	1	Functional:1
PMS2	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
BRAF	2.7.10.2, 2.7.11.1	non-specific protein-tyrosine kinase, non-specific serine/threonine protein kinase
ERBB2	2.7.10.1	receptor protein-tyrosine kinase
KRAS	3.6.5.2	small monomeric GTPase
CHEK2	2.7.11.1	non-specific serine/threonine protein kinase
ATM	2.7.11.1	non-specific serine/threonine protein kinase
POLD1	2.7.7.7	DNA-directed DNA polymerase
POLE	2.7.7.7	DNA-directed DNA polymerase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
BRAF	1,442
ERBB2	1,221
KRAS	861
CHEK2	690
ATM	240

Pharmacogenomics

Cohort genes with a PharmGKB record: 18; 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)
VEMURAFENIB	4	BRAF, KRAS
PONATINIB	4	BRAF, ERBB2
FEDRATINIB	4	BRAF
SORAFENIB	4	BRAF, ERBB2
DASATINIB ANHYDROUS	4	BRAF
RUXOLITINIB	4	BRAF
INFIGRATINIB PHOSPHATE	4	BRAF
INFIGRATINIB	4	BRAF
REGORAFENIB	4	BRAF
DABRAFENIB	4	BRAF, KRAS
COBIMETINIB	4	BRAF
NILOTINIB	4	BRAF
TOVORAFENIB	4	BRAF
PAZOPANIB	4	BRAF
DASATINIB	4	BRAF, ERBB2
ERLOTINIB	4	BRAF, ERBB2
GEFITINIB	4	BRAF, CHEK2, ERBB2
IMATINIB	4	BRAF, ERBB2
CLOTRIMAZOLE	4	ERBB2
AFATINIB	4	ERBB2
LAPATINIB DITOSYLATE	4	ERBB2
NERATINIB	4	CHEK2, ERBB2
IBRUTINIB	4	ERBB2
AFATINIB DIMALEATE	4	ERBB2
CABOZANTINIB	4	ERBB2
DACOMITINIB	4	ERBB2
DACOMITINIB ANHYDROUS	4	ERBB2

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	6	BRAF, ERBB2, KRAS, POU5F1, CHEK2, ATM
B	Phased (≥1) drug, not yet approved	1	BIRC7
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	PKHD1
E	Difficult family or no structure, no drug	10	ZEB1, XRCC2, CDH1, APC, MLH1, MSH2, MUTYH, PMS2, POLD1, POLE

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
ZEB1	0	—
XRCC2	0	—
CDH1	18	—
APC	24	—
MLH1	0	—
MSH2	9	—
MUTYH	1	—
PKHD1	0	—
PMS2	1	—
POLD1	8	—
POLE	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1,079.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	599
PHASE2	174
PHASE1	120
PHASE3	76
PHASE1/PHASE2	72
PHASE4	15
EARLY_PHASE1	12
PHASE2/PHASE3	11

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05250648	PHASE4	RECRUITING	Clinical Trial on HIPEC With Mitomycin C in Colon Cancer Peritoneal Metastases (GECOP-MMC)
NCT01169220	PHASE4	COMPLETED	Bowel Preparation for Inpatient Colonoscopy
NCT01170754	PHASE4	COMPLETED	Miralax (PEG 3350) vs. Golytely as Bowel Preparation for Screening Colonoscopy
NCT02052557	PHASE4	COMPLETED	The Effect of Exparel on Post Operative Pain and Narcotic Use After Colon Surgery
NCT02078726	PHASE4	COMPLETED	Glucagon Use in Colonoscopies
NCT02231203	PHASE4	COMPLETED	Effect of Omega-3 Fatty Acids on the Perioperative Immune Response and Erythrocyte Function
NCT02314871	PHASE4	COMPLETED	Effects of Different Types of Perioperative Analgesia on Minimal Residual Disease Development After Colon Cancer Surgery
NCT02746432	PHASE4	UNKNOWN	Insulin Therapy Reduce Post-Operative Inflammatory Response After Curative Colorectal Cancer Resection: Randomization Controlled Trial
NCT02887365	PHASE4	UNKNOWN	A Phase II Study of Tegafur-Uracil as Maintenance Chemotherapy in Patients With Stage II of Colon Cancer
NCT02937506	PHASE4	COMPLETED	Patient Satisfaction With Propofol for Out Patient Colonoscopy
NCT02958566	PHASE4	UNKNOWN	Multimodal Narcotic Limited Perioperative Pain Control With Colorectal Surgery
NCT03980704	PHASE4	COMPLETED	Preoperative High Protein vs Immunodiet in Surgical Cancer Patients
NCT04269369	PHASE4	UNKNOWN	Implementation of Pre-emptive Geno- and Phenotyping in 5-Fluorouracil- or Capecitabine-treated Patients
NCT04311099	PHASE4	COMPLETED	Optimal Peripheral Nerve Block After Minimally Invasive Colon Surgery
NCT04709770	PHASE4	UNKNOWN	Low-volume vs High-volume Polyethylene Glycol Based Bowel Preparation for Colonoscopy in People Receiving Hemodialysis
NCT00217737	PHASE3	ACTIVE_NOT_RECRUITING	Oxaliplatin, Leucovorin, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer
NCT01460589	PHASE3	ACTIVE_NOT_RECRUITING	Early Commencement of Adjuvant Chemotherapy for Colon Cancer
NCT01918527	PHASE3	ACTIVE_NOT_RECRUITING	Neoadjuvant Chemotherapy Versus Standard Treatment in Patients With Locally Advanced Colon Cancer
NCT02301286	PHASE3	ACTIVE_NOT_RECRUITING	A Trial of Aspirin on Recurrence and Survival in Colon Cancer Patients
NCT02448173	PHASE3	NOT_YET_RECRUITING	A Multicenter Study of Active Specific Immunotherapy With OncoVax® in Patients With Stage II Colon Cancer
NCT02572141	PHASE3	ACTIVE_NOT_RECRUITING	FOLFOX or CAPOX Perioperative Chemotherapy Versus Postoperative Chemotherapy for Locally Advanced Colon Cancer (OPTICAL)
NCT02912559	PHASE3	ACTIVE_NOT_RECRUITING	Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair
NCT03125980	PHASE3	RECRUITING	Perioperative Versus Postoperative CapOX Chemotherapy for Locally Advanced Colon Cancer
NCT03426904	PHASE3	ACTIVE_NOT_RECRUITING	Neoadjuvant FOLFOX Chemotherapy for Patients With Locally Advanced Colon Cancer
NCT03428477	PHASE3	ACTIVE_NOT_RECRUITING	EPA for Metastasis Trial 2
NCT03464305	PHASE3	ACTIVE_NOT_RECRUITING	ASPIRIN Trial Belgium
NCT03803553	PHASE3	RECRUITING	Identification and Treatment Of Micrometastatic Disease in Stage III Colon Cancer
NCT04068103	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Circulating Tumor DNA Testing in Predicting Treatment for Patients With Stage IIA Colon Cancer After Surgery
NCT04089631	PHASE3	RECRUITING	Circulating Tumour DNA Based Decision for Adjuvant Treatment in Colon Cancer Stage II Evaluation
NCT05174169	PHASE2/PHASE3	RECRUITING	Colon Adjuvant Chemotherapy Based on Evaluation of Residual Disease
NCT05179889	PHASE2/PHASE3	RECRUITING	Adjuvant mFOLFIRINOX for High-risk Stage III Colon Cancer
NCT05194878	PHASE3	RECRUITING	Neoadjuvant FOLFOXIRI Versus Immediate Surgery for Stage II and III Colon Cancers
NCT05534087	PHASE3	RECRUITING	Platform Study of Circulating Tumor DNA Directed Adjuvant Chemotherapy in Colon Cancer (KCSG CO22-12)
NCT05709249	PHASE3	RECRUITING	Xian-Lian-Jie-Du Optimization Decoction As an Adjuvant Treatment for Prevention of Recurrence of Colon Cancer
NCT05710406	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Testing the Use of BRAF-Targeted Therapy After Surgery and Usual Chemotherapy for BRAF-Mutated Colon Cancer
NCT06107920	PHASE3	RECRUITING	Neoadjuvant Chemotherapy for Obstructive Colon cancER First Treated by cOlostomy
NCT06293625	PHASE3	RECRUITING	Personalising and Refining Neo-adjuvant Chemotherapy in Locally Advanced but Resecable Colon Cancer in the Elderly of 70 Years Old or More
NCT06446557	PHASE3	NOT_YET_RECRUITING	De-scalation or swItch of Treatment According to Circulating tuMOr DNA Variation After 2 Cycles of Doublet Chemotherapy Plus Targeted Agent in Metastatic Unresectable Colorectal Cancer
NCT06490536	PHASE3	RECRUITING	The Sagittarius Trial
NCT06609551	PHASE3	RECRUITING	ctDNA-guided Selection of Adjuvant Chemotherapy Regimens for Elderly Colon Cancer Patients After Surgery: A Single-center, Randomized, Controlled Study

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LEUCOVORIN	4	24
PANITUMUMAB	4	9
TIPIRACIL	4	9
OXALIPLATIN	4	8
TRIFLURIDINE	4	7
ASPIRIN	4	6
BEVACIZUMAB	4	5
ENCORAFENIB	4	5
FLUOROURACIL	4	5
IRINOTECAN HYDROCHLORIDE	4	5
FLOXURIDINE	4	4
FRUQUINTINIB	4	4
CEMIPLIMAB	4	3
CETUXIMAB	4	3
MORPHINE	4	3
PERTUZUMAB	4	3
SELUMETINIB	4	3
BINIMETINIB	4	2
BUPIVACAINE	4	2
DOSTARLIMAB	4	2
ERLOTINIB HYDROCHLORIDE	4	2
PEGFILGRASTIM	4	2
POLYETHYLENE GLYCOL 3350	4	2
RALTITREXED	4	2
SELPERCATINIB	4	2
TEGAFUR	4	2
TUCATINIB	4	2
ABEMACICLIB	4	1
ATEZOLIZUMAB	4	1
ATORVASTATIN CALCIUM	4	1

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 21 predictive associations from 21 curated evidence items; also 1 oncogenic, 1 prognostic.

Molecular subtype	Therapy	Effect	Level	CIViC
KRAS G13D	Cetuximab	Sensitivity/Response	CIViC B	EID6974
KRAS G12A	Cetuximab	Resistance	CIViC C	EID3717
KRAS G12C	Cetuximab	Resistance	CIViC C	EID3981
KRAS G12D	Cetuximab	Resistance	CIViC C	EID3960
KRAS G12R	Cetuximab	Resistance	CIViC C	EID3998
KRAS G12V	Cetuximab	Resistance	CIViC C	EID3931
KRAS G13D	Cetuximab	Resistance	CIViC C	EID3896
BRAF V600E	Regorafenib Anhydrous	Sensitivity/Response	CIViC D	EID3776
ERBB2 L755S	Lapatinib + Neratinib + Trastuzumab	Sensitivity/Response	CIViC D	EID1176
ERBB2 L866M	Trastuzumab + Neratinib + Lapatinib	Sensitivity/Response	CIViC D	EID1178
ERBB2 S310F/Y	Neratinib + Trastuzumab + Lapatinib	Sensitivity/Response	CIViC D	EID1179
ERBB2 V777L	Lapatinib + Trastuzumab + Neratinib	Sensitivity/Response	CIViC D	EID1177
ERBB2 V842I	Trastuzumab + Lapatinib + Neratinib	Sensitivity/Response	CIViC D	EID1174
FGFR2 Overexpression	Rogaratinib	Sensitivity/Response	CIViC D	EID7830
KRAS G12V	Regorafenib Anhydrous	Sensitivity/Response	CIViC D	EID3932
KRAS G13D	Regorafenib Anhydrous	Sensitivity/Response	CIViC D	EID3897
BIRC7 Amplification	Cisplatin	Resistance	CIViC D	EID661
CIC Loss	Trametinib	Resistance	CIViC D	EID5111
CIC Loss	Vemurafenib	Resistance	CIViC D	EID5112
POU5F1 EXPRESSION	Oxaliplatin	Resistance	CIViC D	EID958
ZEB1 Expression	Oxaliplatin	Resistance	CIViC D	EID8086