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Atlas / Disease / Benign colon neoplasm

Benign colon neoplasm

disease
On this page

Also known as benign colon tumorbenign colon tumourbenign colonic neoplasmbenign colonic tumorbenign colonic tumourbenign neoplasm of colonbenign neoplasm of the colonbenign tumor of colonbenign tumor of the colonbenign tumour of colonbenign tumour of the coloncolon benign neoplasmcolon neoplasmcolonic tumorcolonic tumour

Summary

Benign colon neoplasm (MONDO:0002278) is a cancer (an umbrella term covering 5 Mondo subtypes) with 80 GWAS associations across 23 studies and 54 clinical trials. Top therapeutic interventions include indocyanine green acid form, selumetinib, and encorafenib. A subtype of colonic neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Classification: Cancer
  • Umbrella term: 5 Mondo subtypes
  • GWAS associations: 80
  • Clinical trials: 54

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namebenign colon neoplasm
Mondo IDMONDO:0002278
DOIDDOID:235
ICD-111870086213
NCITC2894
SNOMED CT92065004
UMLSC0004991
MedGen525
Anatomy (UBERON)UBERON:0001155
Is cancer (heuristic)yes

Also known as: benign colon neoplasm · benign colon tumor · benign colon tumour · benign colonic neoplasm · benign colonic tumor · benign colonic tumour · benign neoplasm of colon · benign neoplasm of the colon · benign tumor of colon · benign tumor of the colon · benign tumour of colon · benign tumour of the colon · colon benign neoplasm · colon neoplasm · colonic tumor · colonic tumour

Data availability: 80 GWAS associations (23 studies).

Disease family

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

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

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

Subtypes (5): lipoma of colon, colon leiomyoma, colonic lymphangioma, cavernous hemangioma of colon, benign neoplasm of cecum

Genetics & variants

GWAS landscape

80 GWAS associations across 23 studies. Top hits map to 25 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
chr18:464523275e-61A0.08
rs118743922e-57SMAD7A0.08
rs69832672e-48PCAT1, CASC8, POU5F1B, CCAT2G0.07
chr20:609839731e-47C0.08
chr11:1111604912e-41T0.07
rs15700272e-35CABLES2A0.07
rs108912462e-34POU2AF3, COLCA1A0.06
chr20:63731871e-33T0.06
rs3555289e-30FGFR3P3 - CASC20G0.06
rs729430361e-28BCL2C0.09
rs7040179e-25ZMIZ1-AS1A0.05
rs168927668e-24LINC00536 - EIF3HA0.09
chr5:402598001e-22C0.05
chr3:409271574e-22G0.07
chr17:8099096e-22T0.05
chr15:330116419e-22A0.06
rs22935822e-20GREM1, GREM1-AS1G0.06
chr16:687846037e-20T0.05
chr11:746287431e-19C0.12
rs5452331e-19NDUFA5P10 - LINC01768G0.05
rs727484523e-19LINC00604G0.05
rs78945314e-19RNA5SP299 - LINC02676G0.04
chr1:1830976095e-19A0.04
rs128226206e-19CCND2-AS1, CCND2C0.06
rs14998991e-18NEPRO-AS1 - BOCG0.04
rs93287223e-18NXNG0.04
rs117709559e-18TNS3G0.04
chr7:475143602e-17A0.04
chr10:86988302e-17G0.04
chr13:1110998752e-17G0.04

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90475617Verma A2024125,095270,155Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475616Verma A202431,09375,106Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479835Verma A202431,09375,106Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435655Zhou W201820,204386,011Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90079662Backman JD202116,948370,732Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083648Backman JD202116,948370,732Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90477250Verma A202412,71540,826Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079658Backman JD20216,667381,263Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083644Backman JD20216,667381,263Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90652146Liu TY20254,916221,742Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding2
Tier 2: splice/UTR1
Tier 3: regulatory1
Tier 4: intronic/intergenic46

MAF distribution

BucketVariants
common (>=0.05)47
low_freq (0.01-0.05)3
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
unknown18
intron_variant16
intergenic_variant9
non_coding_transcript_exon_variant2
missense_variant2
regulatory_region_variant1
3_prime_UTR_variant1
synonymous_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
chr18:464523270.4525e-61Tier 4: intronic/intergenic
rs118743921848926786A>G,T0.473intron_variantSMAD72e-57Tier 4: intronic/intergenic
rs69832678127401060G>T0.491non_coding_transcript_exon_variantPCAT1, CASC8, POU5F1B, CCAT22e-48Tier 4: intronic/intergenic
chr20:609839730.2611e-47Tier 4: intronic/intergenic
chr11:1111604910.2962e-41Tier 4: intronic/intergenic
rs15700272062393540A>G,T0.226missense_variantCABLES22e-35Tier 1: coding
rs1089124611111299815A>G,T0.293intron_variantPOU2AF3, COLCA12e-34Tier 4: intronic/intergenic
chr20:63731870.3281e-33Tier 4: intronic/intergenic
rs355528206395370G>A,T0.281intergenic_variantFGFR3P3 - CASC209e-30Tier 4: intronic/intergenic
rs729430361863178543C>T0.083intron_variantBCL21e-28Tier 4: intronic/intergenic
rs7040171079059375A>G0.424intron_variantZMIZ1-AS19e-25Tier 4: intronic/intergenic
rs168927668116618444A>C0.077regulatory_region_variantLINC00536 - EIF3H8e-24Tier 3: regulatory
chr5:402598000.2811e-22Tier 4: intronic/intergenic
chr3:409271570.1284e-22Tier 4: intronic/intergenic
chr17:8099090.3836e-22Tier 4: intronic/intergenic
chr15:330116410.2039e-22Tier 4: intronic/intergenic
rs22935821532718211G>A,C,T0.189non_coding_transcript_exon_variantGREM1, GREM1-AS12e-20Tier 4: intronic/intergenic
chr16:687846030.2747e-20Tier 4: intronic/intergenic
chr11:746287430.0361e-19Tier 4: intronic/intergenic
rs5452331109822907G>A,T0.383intergenic_variantNDUFA5P10 - LINC017681e-19Tier 4: intronic/intergenic
rs72748452540248274G>A0.238intron_variantLINC006043e-19Tier 4: intronic/intergenic
rs7894531108692798G>A,T0.279intergenic_variantRNA5SP299 - LINC026764e-19Tier 4: intronic/intergenic
chr1:1830976090.4795e-19Tier 4: intronic/intergenic
rs12822620124270665C>T0.15intron_variantCCND2-AS1, CCND26e-19Tier 4: intronic/intergenic
rs14998993113192413G>A,C,T0.489intergenic_variantNEPRO-AS1 - BOC1e-18Tier 4: intronic/intergenic
rs932872217909164G>A0.45intron_variantNXN3e-18Tier 4: intronic/intergenic
rs11770955747470979G>A,C,T0.339intron_variantTNS39e-18Tier 4: intronic/intergenic
chr7:475143600.3182e-17Tier 4: intronic/intergenic
chr10:86988300.3182e-17Tier 4: intronic/intergenic
chr13:1110998750.3482e-17Tier 4: intronic/intergenic

Genes & proteins

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

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 54.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified42
PHASE25
PHASE14
PHASE41
PHASE31
PHASE2/PHASE31

Top trials by phase / activity

NCTPhaseStatusTitle
NCT05345613PHASE4RECRUITINGTranexamic Acid During Colonic Endoscopic Resection Procedures
NCT00295035PHASE3UNKNOWNPhase III Trial of Gemcitabine, Curcumin and Celebrex in Patients With Metastatic Colon Cancer
NCT02598414PHASE2/PHASE3UNKNOWNThe Role of Indocyanine Green (ICG) Fluorescence Imaging on Anastomotic Leak in Robotic Colorectal Surgery
NCT04920149PHASE2RECRUITINGMesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome
NCT05914389PHASE2RECRUITINGInduction Chemotherapy Combined With Neoadjuvant Immunotherapy for MSS Colon Cancer
NCT06640166PHASE2RECRUITINGEncorafenib + Cetuximab Beyond Progression in Combination With FOLFIRI in Patients With BRAF V600E Mutated Metastatic Colorectal Cancer Progressing on Encorafenib + Cetuximab.
NCT02625272PHASE2UNKNOWNA Novel Technique of HALS With CME and CVL for RCC
NCT03446157PHASE2COMPLETEDPalbociclib and Cetuximab in Metastatic Colorectal Cancer
NCT00249301PHASE1TERMINATEDA Study of MLN8054 in Patients With Advanced Solid Tumors
NCT00600496PHASE1COMPLETEDA Phase I, Open-Label, Multi-center Study to Assess the Safety, Tolerability and Pharmacokinetics of AZD6244 (ARRY-142886)
NCT01287130PHASE1COMPLETEDAZD6244 With Cetuximab for Solid Tumors and Colorectal Cancer
NCT01519817PHASE1COMPLETEDCancer Vaccine Targeting Brachyury Protein in Tumors
NCT05551052Not specifiedACTIVE_NOT_RECRUITINGCRC Detection Reliable Assessment With Blood
NCT06615583Not specifiedNOT_YET_RECRUITINGA Novel Adaptive Anastomotic Technique for Left-sided Colonic Resection
NCT06630962Not specifiedRECRUITINGEvaluating the Impact of Financial Navigation on Financial Catastrophe and Distress for Cancer Care
NCT06652672Not specifiedRECRUITINGSentinel Node and Organ-sparing Surgery in Stage I Colon Carcinoma
NCT07041229Not specifiedENROLLING_BY_INVITATIONComparison of Methods for Removing Large Benign Broad-based Epithelial Neoplasms of the Colon: ESD and EMR.
NCT07041255Not specifiedRECRUITINGComparison of Cold and Hot Loop Resection Techniques for the Removal of Medium-sized Benign Colon Tumors
NCT07154173Not specifiedRECRUITINGComprehensive Analysis of Gut Microbiota Signatures in Metastatic Colorectal Cancer
NCT07427537Not specifiedRECRUITINGExploration of Circulating microRNAs as Biomarkers of Chemo-induced Peripheral Neuropathy: a Study in Cancer Patients
NCT07450612Not specifiedRECRUITINGLiquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection
NCT07528937Not specifiedNOT_YET_RECRUITINGApplication of 3D Reconstruction for Preoperative Strategy of Locally Advanced Colon Cancer
NCT00155415Not specifiedCOMPLETEDA Prospective Single-Blinded Randomized Trial Comparing Colonoscopic Preparation at Different Time
NCT01196494Not specifiedTERMINATEDStudy of Intraoperative Colonic Irrigation Versus Stent Placement in Obstructive Left-Sided Colonic Cancer
NCT01384097Not specifiedCOMPLETEDAn Algorithm for Intra-operative Goal-directed Haemodynamic Management in Non-cardiac Surgery
NCT01424293Not specifiedCOMPLETEDFluorescent Evaluation of Colorectal Anastamoses
NCT01480128Not specifiedAPPROVED_FOR_MARKETINGMulticenter Single-port Colectomy RCT
NCT01535326Not specifiedCOMPLETEDComparing Water Immersion and Water Exchange Methods During Minimally Sedated Colonoscopy
NCT01699399Not specifiedCOMPLETEDComparing Water Exchange, Water Immersion and Air Insufflation Methods During Colonoscopy With the Option of on Demand Sedation
NCT02117674Not specifiedCOMPLETEDFull Spectrum vs. Standard Forward-viewing Colonoscopy
NCT02340065Not specifiedCOMPLETEDEndocuff-assisted vs. Standard Colonoscopy
NCT02499939Not specifiedCOMPLETEDUltrasound Therapy and Therapeutic Exercise for Chemotherapy Induced Peripheral Neuropathy (CIPN)
NCT02838186Not specifiedCOMPLETEDBackwards Examination of the Right Colon: A Back-to-back Study
NCT02900248Not specifiedTERMINATEDCureOne Registry: Advanced Malignancy or Myelodysplasia, Tested by Standard Sequencing and Treated by Physician Choice
NCT03065257Not specifiedUNKNOWNEndoscopic Resection Multicenter Registry
NCT03198338Not specifiedUNKNOWNUltrasound Guided Transversus Abdominis Plane(TAP) Block in Intensive Care Unit
NCT03458689Not specifiedUNKNOWNQuadratus Lumborum Block Versus Transversus Abdominis Plane Block in Patients Undergoing Left Hemicolectomy
NCT03719573Not specifiedCOMPLETEDGeriatric Assessment and Intervention in Older Patients Undergoing Surgery for Colorectal Cancer
NCT03723720Not specifiedCOMPLETEDCalculating of Correlations Between ADR, PDR, MAP
NCT03730441Not specifiedCOMPLETEDCorrelation Between ADR of Screening and All Colonoscopies

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
INDOCYANINE GREEN ACID FORM42
SELUMETINIB42
ENCORAFENIB41
MESALAMINE41
TRANEXAMIC ACID41
CURCUMIN31
MLN-805411

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 23

This page pulls from 23 datasets indexed by BioBTree:

chembl_moleculecivic_evidenceclinical_trialsclinvardbsnpdoidefogenccgwasgwas_studyhgncicd11medgenmeshmimmondomondochildmondoparentncitorphanetsctiduberonumls