Digestive system neoplasm

Summary

Digestive system neoplasm (MONDO:0021223) is a cancer (an umbrella term covering 23 Mondo subtypes) with 9 GWAS associations across 11 studies and 237 clinical trials. Top therapeutic interventions include irinotecan, sorafenib, and afatinib. A subtype of neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 23 Mondo subtypes
• GWAS associations: 9
• Clinical trials: 237

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	digestive system neoplasm
Mondo ID	MONDO:0021223
EFO	EFO:0008549
MeSH	D005770
NCIT	C3052
UMLS	C0012243
MedGen	8398
Anatomy (UBERON)	UBERON:0001007
Is cancer (heuristic)	yes

Also known as: digestive neoplasm · digestive system neoplasm (disease) · digestive system tumor · digestive system tumour · digestive tumor · digestive tumour · gastrointestinal neoplasm · gastrointestinal system neoplasm · gastrointestinal system tumor · gastrointestinal system tumour · gastrointestinal tumor · gastrointestinal tumour · GI neoplasm · GI system neoplasm · GI system tumor · GI system tumour · GI tumor · GI tumour · neoplasm of digestive system · neoplasm of gastrointestinal system (+16 more)

Data availability: 9 GWAS associations (11 studies) · 1 cell line.

Disease family

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

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

Related subtypes (47): pre-malignant neoplasm, endocrine gland neoplasm, giant cell tumor, hematopoietic and lymphoid system neoplasm, skin neoplasm, mesenchymal cell neoplasm, epidural spinal canal neoplasm, skeletal muscle neoplasm, trophoblastic neoplasm, cancer, germ cell tumor, benign neoplasm, upper aerodigestive tract neoplasm, histiocytoma, embryonal neoplasm, head and neck neoplasm, epithelial neoplasm, reproductive system neoplasm, non-seminomatous lesion, odontogenic cyst, phosphaturic mesenchymal tumor, thyroglossal duct cyst, hamartoma, mesenchymoma, mesothelial neoplasm, peritoneal neoplasm, virus associated tumor, nail tumor, respiratory tract neoplasm, spindle cell neoplasm, mixed neoplasm, urinary system neoplasm, cystic neoplasm, childhood neoplasm, melanocytic neoplasm, nervous system neoplasm, neoplasm of thorax, connective tissue neoplasm, bronchial adenomas/carcinoids childhood, diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, erythroplakia, retroperitoneal neoplasm, cardiovascular neoplasm, dermoid or epidermoid cyst of the central nervous system, connective and soft tissue neoplasm, NTRK fusion positive cancer, RET fusion positive cancer

Subtypes (23): benign digestive system neoplasm, hepatobiliary neoplasm, digestive system cancer, digestive system adenoma, gastrointestinal hamartoma, malignant epithelial tumor of salivary glands, benign epithelial tumor of salivary glands, pancreatic neoplasm, gastric neoplasm, gingival neoplasm, intestinal neoplasm, odontogenic neoplasm, tongue neoplasm, buccal mucosa neoplasm, oral cavity neoplasm, pharynx neoplasm, lip neoplasm, neoplasm of esophagus, tumor of salivary gland, neoplasm of floor of mouth, neoplasm of jaw, digestive system neuroendocrine neoplasm, odontoma

Genetics & variants

GWAS landscape

9 GWAS associations across 11 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs376964606	9e-18	TUBAP15 - RNU6-718P	T	3.48
rs535003151	1e-13	ARHGAP29-AS1	T	2.95
rs189890351	9e-13	DYSF	C	2.38
rs370470796	1e-12	SLC29A3	G	3.35
rs576078171	2e-11	SLC4A10	G	2.43
rs568902633	4e-11	GBP1P1 - LRRC8B	C	2.82
rs78985456	4e-11	LINC00293	G	2.03
rs373812661	5e-09	NCKAP1P1 - KPNB1P1	?
rs116864567	4e-07	RPS19P6 - RPS20P25	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477187	Verma A	2024	2,136	444,124	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477189	Verma A	2024	1,846	447,618	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435583	Zhou W	2018	1,056	393,372	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90652122	Liu TY	2025	1,034	211,360	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90041815	Jiang L	2021	976	455,372	A generalized linear mixed model association tool for biobank-scale data.
GCST90481483	Verma A	2024	847	449,913	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477186	Verma A	2024	654	120,015	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479787	Verma A	2024	654	120,015	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477188	Verma A	2024	524	120,893	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479788	Verma A	2024	524	120,893	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	9

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	7
unknown	1

Functional consequences

Consequence	Count
intron_variant	6
intergenic_variant	3

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs376964606	5	119904064	T>C	0	intron_variant	TUBAP15 - RNU6-718P	9e-18	Tier 4: intronic/intergenic
rs535003151	1	94290290	T>C	0	intron_variant	ARHGAP29-AS1	1e-13	Tier 4: intronic/intergenic
rs189890351	2	71653103	C>T	0.001	intron_variant	DYSF	9e-13	Tier 4: intronic/intergenic
rs370470796	10	71370083	G>T	0	intergenic_variant	SLC29A3	1e-12	Tier 4: intronic/intergenic
rs576078171	2	161847377	G>A,T	0.001	intron_variant	SLC4A10	2e-11	Tier 4: intronic/intergenic
rs568902633	1	89519728	C>A,T	0	intron_variant	GBP1P1 - LRRC8B	4e-11	Tier 4: intronic/intergenic
rs78985456	8	46874217	G>A,T	0.001	intron_variant	LINC00293	4e-11	Tier 4: intronic/intergenic
rs373812661	X	97923765	T>C		intergenic_variant	NCKAP1P1 - KPNB1P1	5e-09	Tier 4: intronic/intergenic
rs116864567	9	81045949	T>C	0.05	intergenic_variant	RPS19P6 - RPS20P25	4e-07	Tier 4: intronic/intergenic

Genes & proteins

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

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Alectinib, Fluorouracil, Pyrotinib, Trastuzumab, Trastuzumab Deruxtecan.

Clinical trials & evidence

Clinical trials

Clinical trials: 237.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	108
PHASE2	45
PHASE1	43
PHASE1/PHASE2	16
PHASE3	14
EARLY_PHASE1	5
PHASE4	4
PHASE2/PHASE3	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00247338	PHASE4	COMPLETED	The Impact of Low Calorie and Low Nitrogen Parenteral Nutrition Support on the Clinical Outcome of Postoperative Patients
NCT01552291	PHASE4	COMPLETED	The Impact of Preoperative Oral Glutamine Intake on the Immunocompetence and Outcomes of Malnourished Patients Undergoing Major Abdominal Surgery Due to Malignancies
NCT02444572	PHASE4	COMPLETED	Comparison of Thromboembolic Events in Patients Undergoing Thromboprophylactic Treatment With ENOXA® vs Lovenox®
NCT02860429	PHASE4	UNKNOWN	Clinical Trial of Cinobufacini Injection Combined With Oxaliplatin Regimen on Gastrointestine Carcinoma
NCT04592913	PHASE3	ACTIVE_NOT_RECRUITING	Assessing Durvalumab and FLOT Chemotherapy in Resectable Gastric and Gastroesophageal Junction Cancer
NCT07218926	PHASE3	RECRUITING	A Study of IDRX-42 (GSK6042981) Versus (vs) Sunitinib in Participants With Gastrointestinal Stromal Tumors After Imatinib Therapy
NCT07222800	PHASE3	RECRUITING	Symbiotic-GI-03: A Study to Learn About the Study Medicine Called PF-08634404 in Combination With Chemotherapy in Adult Participants With Metastatic Colorectal Cancer
NCT00052962	PHASE3	COMPLETED	Debulking and Chemotherapy With or Without Intraperitoneal Chemotherapy to Treat Peritoneal Carcinomatosis
NCT01009593	PHASE3	TERMINATED	Efficacy and Tolerability of ABT-869 Versus Sorafenib in Advanced Hepatocellular Carcinoma (HCC)
NCT01422928	PHASE3	WITHDRAWN	Acupuncture for the Immune System in Radiation Cancer Patients
NCT01964430	PHASE3	COMPLETED	Nab-paclitaxel and Gemcitabine vs Gemcitabine Alone as Adjuvant Therapy for Patients With Resected Pancreatic Cancer (the Apact Study)
NCT01996306	PHASE3	COMPLETED	A Phase III Study of 2nd-line XELIRI ± Bevacizumab vs. FOLFIRI ± Bevacizumab in mCRC
NCT02208804	PHASE2/PHASE3	UNKNOWN	Surefire Infusion System vs. Standard Microcatheter Use During Holmium-166 Radioembolization
NCT02785523	PHASE3	UNKNOWN	Clinical Trial on Ganoderma Spore Lipids Combined With Chemo in Patients With G.I. Cancers
NCT02866045	PHASE3	UNKNOWN	EUS-FNB vs. Single-incision Needle-knife (SINK) Biopsy for Gastrointestinal SELs
NCT03303495	PHASE3	UNKNOWN	A Study of 2nd-line FOLFIRI ± Bevacizumab vs. Irinotecan ± Bevacizumab in mCRC
NCT03674294	PHASE3	COMPLETED	Aprepitant Triple Therapy for the Prevention of CINV in Nondrinking and Young Women Who Received Moderately Emetogenic Chemotherapy
NCT03889626	PHASE3	UNKNOWN	The Maintenance Treatment of Apatinib/Capecitabine Versus Observation in Advanced Gastric Cancer
NCT04393584	PHASE2/PHASE3	UNKNOWN	FOLFIRINOX vs FLOT Chemotherapy for Resectable Gastric or Esophagogastric Junction Adenocarcinoma
NCT06085365	PHASE3	UNKNOWN	Effects of Immunonutrition on the Improvement of Postoperative Adjuvant Chemotherapy Related Adverse Reactions in Patients With Gastrointestinal Tumors
NCT04755920	PHASE2	RECRUITING	SGM-101 in Colorectal Brain Metastases.
NCT05252078	PHASE2	RECRUITING	Anlotinib Hydrochloride Capsules Combined With TQB2450 Injection in Esophageal Squamous Cell Carcinoma Patients
NCT05260385	PHASE1/PHASE2	RECRUITING	To Evaluate KC1036 in the Patients with Advanced Digestive System Tumors
NCT05494060	PHASE2	RECRUITING	XELOX Combined With Anlotinib and Penpulimab vs XELOX as Adjuvant Therapy in ctDNA Positive Gastric and Esophagogastric Junction Adenocarcinoma
NCT05602935	PHASE2	ACTIVE_NOT_RECRUITING	Efficacy and Safety of SOX Regimen Combined With Camrelizumab as Neoadjuvant Treatment in Locally Advanced Gastric Cancer: a Phase II, Single-arm Study
NCT05624099	PHASE2	RECRUITING	Camrelizumab Combined With Chemoradiotherapy in Advanced Esophageal Cancer.
NCT05772546	PHASE2	ACTIVE_NOT_RECRUITING	Avatrombopag vs. Placebo for CIT in GI Malignancies
NCT05922358	PHASE2	NOT_YET_RECRUITING	Phase II Study of Reuse of Oxaliplatin Hypersensitivity in Gastrointestinal Tumors
NCT06562348	PHASE2	RECRUITING	The ctDNA-RECIST Trial Part One
NCT06775080	PHASE2	RECRUITING	The Use of Propranolol in the Perioperative Period of Resectable Gastrointestinal Tumors
NCT06885034	PHASE1/PHASE2	RECRUITING	A Study to Test the Safety and Effectiveness of GSK5764227, Alone or With Other Treatments, in Participants With Advanced Gastrointestinal Cancers That Cannot be Surgically Removed
NCT07053150	PHASE2	NOT_YET_RECRUITING	A Prospective, Open-label, Exploratory Basket Trial to Evaluate the Efficacy and Safety of Sintilimab Combined With Pyrotinib ± Chemotherapy in Patients With Advanced Digestive System Tumors
NCT07196540	PHASE2	NOT_YET_RECRUITING	IP rmhTNF-NC + Tislelizumab + Palliat RT for GIT Tumor Malignant Ascites After Failed Std Tx
NCT07406633	PHASE2	RECRUITING	KQB198 in Combination With Imatinib in Participants With Advanced/Metastatic GIST in 1st Line Setting
NCT07564466	PHASE2	NOT_YET_RECRUITING	A Study of SKB571 in Participants With Gastrointestinal Tumors
NCT07586813	PHASE2	RECRUITING	Romiplostim N01 Plus ATRA for Persistent Isolated Chemotherapy-Induced Thrombocytopenia After Complete Remission of Gastrointestinal Solid Tumors
NCT00041808	PHASE1/PHASE2	COMPLETED	Magnetic-Targeted Doxorubicin in Treating Patients With Cancer Metastatic to the Liver
NCT00190801	PHASE2	COMPLETED	Phase 2 Study on Use of a Combination of Pemetrexed in Patients With Advanced Gastric Carcinoma
NCT00196885	PHASE2	COMPLETED	Effect of an Antioxidant on Cancer-Cachectic Patients Undergoing Exercise Training
NCT00289445	PHASE1/PHASE2	COMPLETED	Study With Mitomycin c/5-FU/FA in Pretreated Gastrointestinal Cancer Patients With Metastases (>= Second-line Treatment)

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
IRINOTECAN	4	3
SORAFENIB	4	2
AFATINIB	4	1
ALECTINIB	4	1
APREPITANT	4	1
AVATROMBOPAG	4	1
COPANLISIB	4	1
DOSTARLIMAB	4	1
DURVALUMAB	4	1
ENOXAPARIN SODIUM	4	1
FLUCYTOSINE	4	1
GLUTAMINE	4	1
HYDROXYCHLOROQUINE	4	1
LANREOTIDE	4	1
MITOMYCIN	4	1
PALONOSETRON	4	1
PEMIGATINIB	4	1
PLICAMYCIN	4	1
PRALSETINIB	4	1
ROMIPLOSTIM	4	1
SELUMETINIB	4	1
SODIUM THIOSULFATE	4	1
SUNITINIB	4	1
CATEQUENTINIB HYDROCHLORIDE	3	2
ENTINOSTAT	3	2
PLATINUM	3	2
RIVOCERANIB	3	2
BENMELSTOBART	3	1
BRIVANIB ALANINATE	3	1
ENDOSTATIN, N-TERMINAL-MGGSHHHHH	3	1