Colon mucinous adenocarcinoma

Summary

Colon mucinous adenocarcinoma (MONDO:0005007) is a disease with 1 cohort gene and 21 clinical trials. Molecularly, KRAS Q22* is associated with resistance to Panitumumab in Colon Mucinous Adenocarcinoma (CIViC Level C). Top therapeutic interventions include leucovorin, phenylbutanoic acid, and fluorouracil.

At a glance

• Cohort genes: 1
• Clinical trials: 21
• Precision-medicine evidence (CIViC): 1 subtype–drug association

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	colon mucinous adenocarcinoma
Mondo ID	MONDO:0005007
EFO	EFO:0000364
DOID	DOID:3029
NCIT	C7966
UMLS	C0279639
MedGen	76007
Anatomy (UBERON)	UBERON:0001155
Is cancer (heuristic)	no

Also known as: colloid adenocarcinoma of colon · colloid adenocarcinoma of the colon · colloid colon adenocarcinoma · colloidal adenocarcinoma of colon · colloidal adenocarcinoma of the colon · colloidal colon adenocarcinoma · colon colloid adenocarcinoma · colon colloidal adenocarcinoma · colon mucinous adenocarcinoma · colonic colloid adenocarcinoma · colonic colloidal adenocarcinoma · colonic mucinous adenocarcinoma · mucinous adenocarcinoma of colon · mucinous adenocarcinoma of the colon · mucinous colon adenocarcinoma

Data availability: 8 cell lines.

Disease family

An umbrella term covering 1 Mondo subtype.

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

Related subtypes (4): colon medullary carcinoma, colon signet ring cell adenocarcinoma, submucosal invasive colon adenocarcinoma, cecum adenocarcinoma

Subtypes (1): mucinous adenocarcinoma of the appendix

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 11 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
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

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
KRAS	HGNC:6407	ENSG00000133703	P01116	GTPase KRas	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
KRAS	GTPase KRas	Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Enzyme (other)	1	12.0×	0.083

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
KRAS	Enzyme (other)	yes	3.6.5.2	Small_GTPase, Small_GTP-bd, Small_GTPase_Ras-type

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
nipple	1
pylorus	1
trigeminal ganglion	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
KRAS	298	ubiquitous	marker	trigeminal ganglion, pylorus, nipple

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KRAS	14,509

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KRAS	P01116	511

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 71. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Signaling by RAS GAP mutants	1	3806.7×	0.003	KRAS
Signaling by RAS GTPase mutants	1	3806.7×	0.003	KRAS
Activation of RAS in B cells	1	2284.0×	0.003	KRAS
RAS signaling downstream of NF1 loss-of-function variants	1	1631.4×	0.003	KRAS
Estrogen-stimulated signaling through PRKCZ	1	1631.4×	0.003	KRAS
SOS-mediated signalling	1	1427.5×	0.003	KRAS
Activated NTRK3 signals through RAS	1	1268.9×	0.003	KRAS
EGFR Transactivation by Gastrin	1	1142.0×	0.003	KRAS
SHC-related events triggered by IGF1R	1	1142.0×	0.003	KRAS
RUNX3 regulates p14-ARF	1	1142.0×	0.003	KRAS
Activated NTRK2 signals through RAS	1	1142.0×	0.003	KRAS
MET activates RAS signaling	1	1038.2×	0.003	KRAS
Signaling by FGFR4 in disease	1	951.7×	0.003	KRAS
Activated NTRK2 signals through FRS2 and FRS3	1	951.7×	0.003	KRAS
Constitutive Signaling by Overexpressed ERBB2	1	951.7×	0.003	KRAS
p38MAPK events	1	878.5×	0.003	KRAS
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants	1	878.5×	0.003	KRAS
Signaling by PDGFRA extracellular domain mutants	1	878.5×	0.003	KRAS
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases	1	815.7×	0.003	KRAS
GRB2 events in EGFR signaling	1	761.3×	0.003	KRAS
Erythropoietin activates RAS	1	761.3×	0.003	KRAS
Signaling by FLT3 ITD and TKD mutants	1	761.3×	0.003	KRAS
SHC1 events in ERBB4 signaling	1	713.8×	0.003	KRAS
SHC1 events in EGFR signaling	1	713.8×	0.003	KRAS
Constitutive Signaling by EGFRvIII	1	713.8×	0.003	KRAS
Signalling to RAS	1	671.8×	0.003	KRAS
Insulin receptor signalling cascade	1	671.8×	0.003	KRAS
Signaling by ERBB2 ECD mutants	1	671.8×	0.003	KRAS
GRB2 events in ERBB2 signaling	1	634.4×	0.003	KRAS
Tie2 Signaling	1	601.0×	0.003	KRAS

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
response to mineralocorticoid	1	16852.0×	0.002	KRAS
forebrain astrocyte development	1	5617.3×	0.002	KRAS
response to isolation stress	1	4213.0×	0.002	KRAS
response to gravity	1	2808.7×	0.003	KRAS
type I pneumocyte differentiation	1	1532.0×	0.003	KRAS
myoblast proliferation	1	1404.3×	0.003	KRAS
positive regulation of cellular senescence	1	1296.3×	0.003	KRAS
negative regulation of epithelial cell differentiation	1	1203.7×	0.003	KRAS
regulation of synaptic transmission, GABAergic	1	1053.2×	0.003	KRAS
regulation of long-term neuronal synaptic plasticity	1	991.3×	0.003	KRAS
striated muscle cell differentiation	1	991.3×	0.003	KRAS
glial cell proliferation	1	887.0×	0.003	KRAS
epithelial tube branching involved in lung morphogenesis	1	842.6×	0.003	KRAS
positive regulation of glial cell proliferation	1	702.2×	0.003	KRAS
positive regulation of Rac protein signal transduction	1	648.1×	0.003	KRAS
cardiac muscle cell proliferation	1	581.1×	0.003	KRAS
Rac protein signal transduction	1	561.7×	0.003	KRAS
homeostasis of number of cells within a tissue	1	443.5×	0.004	KRAS
skeletal muscle cell differentiation	1	343.9×	0.005	KRAS
response to glucocorticoid	1	324.1×	0.005	KRAS
visual learning	1	306.4×	0.005	KRAS
liver development	1	221.7×	0.006	KRAS
female pregnancy	1	210.7×	0.006	KRAS
Ras protein signal transduction	1	205.5×	0.006	KRAS
neuron apoptotic process	1	185.2×	0.007	KRAS
MAPK cascade	1	153.2×	0.008	KRAS
cytokine-mediated signaling pathway	1	130.6×	0.009	KRAS
negative regulation of neuron apoptotic process	1	110.9×	0.010	KRAS
gene expression	1	79.9×	0.013	KRAS
actin cytoskeleton organization	1	79.1×	0.013	KRAS

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) 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
KRAS	VEMURAFENIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
KRAS	11	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
VEMURAFENIB	4	KRAS
DABRAFENIB	4	KRAS
LONAFARNIB	4	KRAS
SOTORASIB	4	KRAS
ADAGRASIB	4	KRAS
OPNURASIB	3	KRAS
DIVARASIB	2	KRAS
GLECIRASIB	2	KRAS
BMS-214662	1	KRAS
LY-3009120	1	KRAS
MRTX-1133	1	KRAS

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
KRAS	861	Binding:829, Functional:32

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
KRAS	3.6.5.2	small monomeric GTPase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
KRAS	861

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

11 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
VEMURAFENIB	4	KRAS
DABRAFENIB	4	KRAS
LONAFARNIB	4	KRAS
SOTORASIB	4	KRAS
ADAGRASIB	4	KRAS
OPNURASIB	3	KRAS
DIVARASIB	2	KRAS
GLECIRASIB	2	KRAS
BMS-214662	1	KRAS
LY-3009120	1	KRAS
MRTX-1133	1	KRAS

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	KRAS
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 21.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	7
PHASE1	7
PHASE3	2
EARLY_PHASE1	2
Not specified	2
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00002968	PHASE3	COMPLETED	Edrecolomab in Treating Patients With Stage II Colon Cancer
NCT00005036	PHASE3	COMPLETED	Irinotecan Compared With Combination Chemotherapy in Treating Patients With Advanced Colorectal Cancer
NCT00002796	PHASE1/PHASE2	TERMINATED	Phase I-II Study of Fluorouracil in Combination With Phenylbutyrate in Advanced Colorectal Cancer
NCT00052585	PHASE2	TERMINATED	Gefitinib and Combination Chemotherapy in Treating Patients With Advanced or Recurrent Colorectal Cancer
NCT00100841	PHASE2	COMPLETED	Phase II Trial of FOLFOX6, Bevacizumab and Cetuximab in Patients With Colorectal Cancer
NCT01652196	PHASE2	COMPLETED	Aflibercept and FOLFOX6 Treatment for Previously Untreated Stage IV Colorectal Cancer
NCT01802320	PHASE2	COMPLETED	Akt Inhibitor MK2206 in Treating Patients With Previously Treated Colon or Rectal Cancer That is Metastatic or Locally Advanced and Cannot Be Removed by Surgery
NCT01814501	PHASE2	COMPLETED	Panitumumab and Chemotherapy in Patients With Advanced Colorectal Cancer After Prior Therapy With Bevacizumab
NCT02235324	PHASE2	WITHDRAWN	Ziv-Aflibercept Followed by Ziv-Aflibercept, Fluorouracil, and Leucovorin Calcium in Treating Patients With Stage IV Colorectal Cancer
NCT03693846	PHASE2	TERMINATED	Nivolumab and Ipilimumab in Mucinous Colorectal and Appendiceal Tumors
NCT00060411	PHASE1	COMPLETED	A Phase I, Pharmacological, and Biological Study of OSI-774 in Combination With FOLFOX 4 (5-FU, Leucovorin, and Oxaliplatin) and Bevacizumab (Avastin) in Patients With Advanced Colorectal Cancer
NCT01198535	PHASE1	TERMINATED	Phase I Study of Cetuximab With RO4929097 in Metastatic Colorectal Cancer
NCT01285102	PHASE1	TERMINATED	Chemoembolization Using Irinotecan in Treating Patients With Liver Metastases From Metastatic Colon or Rectal Cancer
NCT01643499	PHASE1	COMPLETED	Genotype-guided Dosing of mFOLFIRINOX Chemotherapy in Patients With Previously Untreated Advanced Gastrointestinal Malignancies
NCT01923337	PHASE1	COMPLETED	Irinotecan and Alisertib in Treating Patients With Advanced Solid Tumors or Colorectal Cancer
NCT02110953	PHASE1	TERMINATED	Irinotecan-Eluting Beads in Treating Patients With Refractory Metastatic Colon or Rectal Cancer That Has Spread to the Liver
NCT02232152	PHASE1	COMPLETED	CPI-613 and Fluorouracil in Treating Patients With Metastatic Colorectal Cancer That Cannot Be Removed by Surgery
NCT00835679	EARLY_PHASE1	TERMINATED	Cetuximab and/or Dasatinib in Patients With Colorectal Cancer and Liver Metastases That Can Be Removed by Surgery
NCT01403103	EARLY_PHASE1	WITHDRAWN	Cholecalciferol(25-[OH]-Vitamin D) in Treating Patients With Colorectal Cancer
NCT01726296	Not specified	COMPLETED	Adherence to Survivorship Care Guidelines in Health Care Providers for Non-Small Cell Lung Cancer and Colorectal Cancer Survivor Care
NCT01934179	Not specified	TERMINATED	Telomere Length in Predicting Toxicity in Older Patients With Stage III-IV Colorectal Cancer Undergoing Chemotherapy

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LEUCOVORIN	4	9
PHENYLBUTANOIC ACID	4	2
FLUOROURACIL	4	1
GEFITINIB	4	1
INDOMETHACIN	4	1
IRINOTECAN HYDROCHLORIDE	4	1
OXALIPLATIN	4	1
ALISERTIB	3	1
CPI 613	3	1
EDRECOLOMAB	3	1
CHEMBL541887	0	1

Precision-medicine subtype map (CIViC)

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

Molecular subtype	Therapy	Effect	Level	CIViC
KRAS Q22*	Panitumumab	Resistance	CIViC C	EID1131