Diffuse gastric adenocarcinoma

Summary

Diffuse gastric adenocarcinoma (MONDO:0005017) is a disease with 16 GWAS associations across 2 studies and 16 clinical trials. Top therapeutic interventions include lapatinib, bortezomib, and alvocidib. A subtype of gastric adenocarcinoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 16
• Clinical trials: 16

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	diffuse gastric adenocarcinoma
Mondo ID	MONDO:0005017
EFO	EFO:0000402
DOID	DOID:6217
NCIT	C9159
UMLS	C0279635
MedGen	79019
GARD	0027712
Anatomy (UBERON)	UBERON:0000945
Is cancer (heuristic)	no

Also known as: adenocarcinoma of linitis plastica type · adenocarcinoma of the linitis plastica type · carcinoma, diffuse type · carcinoma, diffuse type (morphologic abnormality) · diffuse adenocarcinoma of stomach · diffuse adenocarcinoma of the stomach · diffuse gastric adenocarcinoma · diffuse stomach adenocarcinoma · diffuse type stomach adenocarcinoma · gastric diffuse adenocarcinoma · stomach diffuse type adenocarcinoma

Data availability: 16 GWAS associations (2 studies) · 24 cell lines.

Disease family

This is a subtype of gastric adenocarcinoma. 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 › digestive system cancer › gastric cancer › gastric carcinoma › gastric adenocarcinoma › diffuse gastric adenocarcinoma

Related subtypes (8): microinvasive gastric cancer, gastric cardia adenocarcinoma, gastric intestinal type adenocarcinoma, gastric tubular adenocarcinoma, gastric papillary adenocarcinoma, mucinous gastric adenocarcinoma, signet ring cell gastric adenocarcinoma, CTNNA1-related diffuse gastric and lobular breast cancer syndrome

Subtypes (2): hereditary diffuse gastric adenocarcinoma, gastric linitis plastica

Genetics & variants

GWAS landscape

16 GWAS associations across 2 studies. Top hits map to 7 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs2671655	4e-08	ZNF652-AS1	T	2.53
rs11160715	2e-07	NDUFB4P11 - RPL21P12	T	2.22
rs2671658	1e-06	ZNF652-AS1	G	1.97
rs28655613	2e-06	GPR78 - HMX1	C	3.59
rs79089020	3e-06	MIR3141 - LARP1	A	2.53
rs9639696	3e-06	CHLSN	T	2.16
rs12404302	6e-06	LINC01725	A	2.75
rs17201588	6e-06	TNXB	T	2.39
rs66517972	7e-06	LINC01830	T	1.88
rs61960284	7e-06	GYG1P2 - RNU6-67P	A	2.06
rs2076771	8e-06	ABLIM2	A	1.79
rs72841344	8e-06	LINC01482	G	2.01
rs7717911	8e-06	LINC02211 - RNU6-374P	C	2.01
rs144301206	8e-06	MIR3141 - LARP1	G	2.35
rs41522844	8e-06	HSP90B3P - TGFBR3	T	2.34

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90432163	Shin CM	2022	0	0	rs2671655 single nucleotide polymorphism modulates the risk for gastric cancer in Helicobacter pylori-infected individuals: a genome-wide association study in the Korean population.
GCST90432164	Shin CM	2022	0	0	rs2671655 single nucleotide polymorphism modulates the risk for gastric cancer in Helicobacter pylori-infected individuals: a genome-wide association study in the Korean population.

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	15

MAF distribution

Bucket	Variants
common (>=0.05)	15
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	9
intergenic_variant	6

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs2671655	17	49390658	C>T	0.05	intron_variant	ZNF652-AS1	4e-08	Tier 4: intronic/intergenic
rs11160715	14	103148318	T>A,C,G	0.05	intergenic_variant	NDUFB4P11 - RPL21P12	2e-07	Tier 4: intronic/intergenic
rs2671658	17	49396897	A>G,T	0.05	intron_variant	ZNF652-AS1	1e-06	Tier 4: intronic/intergenic
rs28655613	4	8674143	A>C	0.05	intergenic_variant	GPR78 - HMX1	2e-06	Tier 4: intronic/intergenic
rs79089020	5	154681182	C>A,T	0.05	intergenic_variant	MIR3141 - LARP1	3e-06	Tier 4: intronic/intergenic
rs9639696	7	1005302	T>A,C	0.05	intron_variant	CHLSN	3e-06	Tier 4: intronic/intergenic
rs12404302	1	83365862	G>A	0.05	intron_variant	LINC01725	6e-06	Tier 4: intronic/intergenic
rs17201588	6	32090195	T>A	0.05	intron_variant	TNXB	6e-06	Tier 4: intronic/intergenic
rs66517972	2	22372307	C>G,T	0.05	intron_variant	LINC01830	7e-06	Tier 4: intronic/intergenic
rs61960284	13	82883848	A>G,T	0.05	intron_variant	GYG1P2 - RNU6-67P	7e-06	Tier 4: intronic/intergenic
rs2076771	4	8059780	C>A	0.05	intron_variant	ABLIM2	8e-06	Tier 4: intronic/intergenic
rs72841344	17	68679002	G>A	0.05	intron_variant	LINC01482	8e-06	Tier 4: intronic/intergenic
rs7717911	5	25505570	T>C	0.05	intergenic_variant	LINC02211 - RNU6-374P	8e-06	Tier 4: intronic/intergenic
rs144301206	5	154636744	A>G,T	0.05	intergenic_variant	MIR3141 - LARP1	8e-06	Tier 4: intronic/intergenic
rs41522844	1	91679376	G>A,T	0.05	intergenic_variant	HSP90B3P - TGFBR3	8e-06	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

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

Clinical trials & evidence

Clinical trials

Clinical trials: 16.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	8
PHASE1/PHASE2	3
Not specified	3
PHASE1	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00061932	PHASE2	COMPLETED	Bortezomib With or Without Irinotecan in Treating Patients With Cancer of the Gastroesophageal Junction or Stomach
NCT00064259	PHASE1/PHASE2	TERMINATED	A Phase I/II Study of Oblimersen Plus Cisplatin and Fluorouracil in Gastric & Esophageal Junction Cancer
NCT00084604	PHASE2	COMPLETED	Irinotecan, Cisplatin, and Bevacizumab in Treating Patients With Unresectable or Metastatic Gastric or Gastroesophageal Junction Adenocarcinoma
NCT00084617	PHASE2	COMPLETED	Phase II Study of Oxaliplatin, Irinotecan, and Capecitabine in Advanced Gastric/Gastroesophageal Junction Carcinoma
NCT00103324	PHASE2	COMPLETED	S0413 Lapatinib in Treating Patients With Locally Advanced or Metastatic Stomach Cancer
NCT00991952	PHASE2	COMPLETED	Irinotecan Hydrochloride With or Without Alvocidib in Treating Patients With Advanced Stomach or Gastroesophageal Junction Cancer That Cannot Be Removed By Surgery
NCT01212822	PHASE2	COMPLETED	Bevacizumab and Combination Chemotherapy Before Surgery in Treating Patients With Locally Advanced Esophageal or Stomach Cancer
NCT01231399	PHASE1/PHASE2	COMPLETED	Everolimus and Combination Chemotherapy in Treating Patients With Metastatic Stomach or Esophageal Cancer
NCT01260701	PHASE2	COMPLETED	Akt Inhibitor MK2206 in Treating Patients With Advanced Gastric or Gastroesophageal Junction Cancer
NCT01612546	PHASE2	COMPLETED	Pilot Trial of CRLX101 in Treatment of Patients With Advanced or Metastatic Stomach, Gastroesophageal, or Esophageal Cancer That Cannot be Removed by Surgery
NCT02344810	PHASE1/PHASE2	WITHDRAWN	C-Met Inhibitor AMG 337, Oxaliplatin, Leucovorin Calcium, and Fluorouracil in Treating Patients With Advanced Stomach or Esophageal Cancer
NCT00028496	PHASE1	COMPLETED	Vaccine Therapy With or Without Sargramostim in Treating Patients With Advanced or Metastatic Cancer
NCT01643499	PHASE1	COMPLETED	Genotype-guided Dosing of mFOLFIRINOX Chemotherapy in Patients With Previously Untreated Advanced Gastrointestinal Malignancies
NCT01727908	Not specified	TERMINATED	Screening for Familial Gastric Cancer in First Degree Relatives
NCT01939275	Not specified	COMPLETED	64Cu DOTA-Trastuzumab PET/CT in Studying Patients With Gastric Cancer
NCT06362070	Not specified	UNKNOWN	Comparison of Outcomes of Multiple Platforms for Assisted Robotic - Gastrectomy

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LAPATINIB	4	3
BORTEZOMIB	4	1
ALVOCIDIB	3	3
OBLIMERSEN SODIUM	3	1