MCID: DFF019
MIFTS: 45

Diffuse Gastric Cancer

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Diffuse Gastric Cancer

MalaCards integrated aliases for Diffuse Gastric Cancer:

Name: Diffuse Gastric Cancer 54
Signet Ring Cell Gastric Carcinoma 54
Diffuse Gastric Cancer Syndrome 30
Signet Ring Gastric Carcinoma 54
Gastric Signet Ring Carcinoma 74
Carcinoma, Signet Ring Cell 74
Signet Ring Cell Carcinoma 54
Signet Cell Adenocarcinoma 54
Cancer, Gastric, Diffuse 41

Classifications:



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Summaries for Diffuse Gastric Cancer

NIH Rare Diseases : 54 Diffuse gastric canceror signet ring cell cancer is a type of cancer found most often in the glandular cells lining the stomach, but can also develop in the bowel, breast, pancreas, bladder, prostate or lung. The 2010 WHO (World Health Organization) classification recognizes four major histologic patterns of gastric cancers: tubular, papillary, mucinous and poorly cohesive (including signet ring cell carcinoma), plus uncommon histologic variants. The term "signet ring cell" is often used because the cells look like signet rings when viewed under a microscope. The signet cells are a type of epithelial cell. Epithelial tissue is skin tissue, covering and lining the body both inside and out. When diffuse gastric cancer is inherited it is called "hereditary diffuse gastric cancer." Treatment depends on the stage at which the cancer is found and may include chemotherapy, radiation therapy, or operations to remove the stomach (gastrectomy).

MalaCards based summary : Diffuse Gastric Cancer, also known as signet ring cell gastric carcinoma, is related to gastric cancer, hereditary diffuse and gastric cancer. An important gene associated with Diffuse Gastric Cancer is CDH1 (Cadherin 1), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. The drugs Tegafur and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include prostate, breast and lung, and related phenotypes are Decreased NANOG protein expression and Decreased NANOG protein expression

Related Diseases for Diffuse Gastric Cancer

Diseases in the Diffuse Gastric Cancer family:

Gastric Cancer, Hereditary Diffuse

Diseases related to Diffuse Gastric Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 gastric cancer, hereditary diffuse 33.8 CDH1 CTNNA1
2 gastric cancer 31.6 CDH1 CTNNA1 GSTM1 GSTP1
3 bladder cancer 29.2 CDH1 GSTM1 GSTP1
4 bile duct signet ring cell carcinoma 12.6
5 signet ring cell adenocarcinoma 12.4
6 pancreatic signet ring cell adenocarcinoma 12.0
7 breast signet ring cell adenocarcinoma 11.9
8 gallbladder signet ring cell adenocarcinoma 11.7
9 krukenberg carcinoma 11.7
10 ampullary signet ring cell adenocarcinoma 11.6
11 prostate signet ring cell adenocarcinoma 11.6
12 prostate cancer 11.4
13 prostate cancer, hereditary, 1 11.4
14 prostate cancer, hereditary, 12 11.4
15 prostate cancer, hereditary, 13 11.4
16 prostate cancer, hereditary, 11 11.4
17 prostate cancer, hereditary, 2 11.4
18 familial stomach cancer 11.2
19 mucinous adenocarcinoma 10.5
20 appendix adenocarcinoma 10.5
21 microinvasive gastric cancer 10.4
22 eyelid carcinoma 10.4
23 cardiac tamponade 10.3
24 hemolytic anemia 10.2
25 lymphoma 10.2
26 tubular adenocarcinoma 10.2
27 adenoma 10.2
28 intussusception 10.2
29 myositis 10.2
30 paget disease, extramammary 10.2
31 bile duct cysts 10.2
32 small cell carcinoma 10.2
33 colitis 10.2
34 crohn's colitis 10.2
35 neuroendocrine carcinoma 10.2
36 gastric adenocarcinoma 10.2
37 linitis plastica 10.2
38 appendicitis 10.2
39 breast cancer 10.1
40 gastric diffuse adenocarcinoma 10.1 CDH1 CTNNA1
41 aortic aneurysm 10.1
42 lobular neoplasia 10.1 CDH1 CTNNA1
43 laryngeal disease 10.0 CDH1 GSTM1
44 cleft lip 10.0
45 burkitt lymphoma 10.0
46 multiple endocrine neoplasia, type i 10.0
47 hemochromatosis, type 1 10.0
48 basal cell carcinoma 1 10.0
49 gastrointestinal stromal tumor 10.0
50 meningioma, familial 10.0

Graphical network of the top 20 diseases related to Diffuse Gastric Cancer:



Diseases related to Diffuse Gastric Cancer

Symptoms & Phenotypes for Diffuse Gastric Cancer

GenomeRNAi Phenotypes related to Diffuse Gastric Cancer according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NANOG protein expression GR00184-A-3 9.02 HNRNPU
2 Decreased NANOG protein expression GR00184-A-6 9.02 GSTP1 HNRNPU
3 Decreased NANOG protein expression GR00184-A-8 9.02 GSTP1 HNRNPU

Drugs & Therapeutics for Diffuse Gastric Cancer

Drugs for Diffuse Gastric Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tegafur Approved, Investigational Phase 3 17902-23-7 5386
2
Fluorouracil Approved Phase 3 51-21-8 3385
3
Cisplatin Approved Phase 3,Phase 1,Phase 2 15663-27-1 2767 441203 84093
4 Immunologic Factors Phase 3
5 Antimetabolites Phase 3
6
s 1 (combination) Phase 3
7 Immunosuppressive Agents Phase 3
8 Antimetabolites, Antineoplastic Phase 3
9
nivolumab Approved Phase 2 946414-94-4
10
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
11
Fulvestrant Approved, Investigational Phase 2 129453-61-8 17756771 104741
12
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
13 Cola Phase 1, Phase 2
14 Antibiotics, Antitubercular Phase 1, Phase 2
15 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2
16 Alkylating Agents Phase 1, Phase 2
17 Mitomycins Phase 1, Phase 2
18 Anti-Bacterial Agents Phase 1, Phase 2
19 Antineoplastic Agents, Immunological Phase 2
20 Estrogens Phase 2
21 Estrogen Receptor Antagonists Phase 2
22 Protein Kinase Inhibitors Phase 2
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
24 Pharmaceutical Solutions Phase 2
25 Hormone Antagonists Phase 2
26 Estrogen Antagonists Phase 2
27 Hormones Phase 2
28 Antineoplastic Agents, Hormonal Phase 2
29 Antibodies Phase 1
30 Antibodies, Monoclonal Phase 1
31 Immunoglobulins Phase 1

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Diffuse Gastric and Esophagogastric Junction Cancer S-1 Trial Unknown status NCT01285557 Phase 3 S-1 (Tegafur/Gimeracil/Oteracil) /cisplatin (investigational arm);Fluorouracil/cisplatin (control arm)
2 Adjuvant HIPEC to Prevent Colorectal Peritoneal Metastases in High-risk Patients Completed NCT02575859 Phase 1, Phase 2 adjuvant HIPEC
3 Confocal Endoscopic Microscopy for Detection of Early Stage Gastric Cancer in Subjects With Hereditary Diffuse Gastric Cancer Syndrome Recruiting NCT03648879 Phase 2
4 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Recruiting NCT02978625 Phase 2
5 ROS1 Targeting With Crizotinib in Advanced E-cadherin Negative, ER Positive Lobular Breast Cancer or Diffuse Gastric Cancer Study Not yet recruiting NCT03620643 Phase 2 Crizotinib Oral Capsule [Xalkori];Fulvestrant 50 MG/ML Prefilled Syringe [Faslodex]
6 QUILT-3.017: Study of NEO-201 in Solid Tumors Recruiting NCT03476681 Phase 1 NEO-201
7 Biopsy Technique for Endoscopic Surveillance of Hereditary Diffuse Gastric Cancer Completed NCT03950908 Not Applicable
8 Signet Ring Cell Carcinoma in Esophageal Adenocarcinoma Completed NCT01824966
9 Prognosis of Signet Ring Cells in Upper Digestive Neoplasms Completed NCT01249859
10 NBI for Identifying Resection Margin Status in Gastric Cancer Completed NCT02926716
11 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
12 Early Onset and Familial Gastric Cancer Registry Active, not recruiting NCT00582257
13 Socioeconomic Position in Acute Colorectal Cancer Surgery Active, not recruiting NCT03581890
14 Endodrill vs. Conventional Biopsy. Evaluation of Diagnostic Capacity in Diffuse Gastric Cancer Withdrawn NCT02594943 Not Applicable

Search NIH Clinical Center for Diffuse Gastric Cancer

Genetic Tests for Diffuse Gastric Cancer

Genetic tests related to Diffuse Gastric Cancer:

# Genetic test Affiliating Genes
1 Diffuse Gastric Cancer Syndrome 30

Anatomical Context for Diffuse Gastric Cancer

MalaCards organs/tissues related to Diffuse Gastric Cancer:

42
Prostate, Breast, Lung, Skin, Pancreas, Testes, Bone

Publications for Diffuse Gastric Cancer

Articles related to Diffuse Gastric Cancer:

(show top 50) (show all 197)
# Title Authors Year
1
Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature. ( 30306390 )
2019
2
Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori. ( 29589180 )
2019
3
Is prophylactic gastrectomy indicated for healthy carriers of CDH1 gene mutations associated with hereditary diffuse gastric cancer? ( 30466290 )
2019
4
Establishing a center of excellence for hereditary diffuse gastric cancer syndrome. ( 30618047 )
2019
5
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC). ( 30745422 )
2019
6
Intestinal and diffuse gastric cancer: a retrospective study comparing primary sites. ( 30870726 )
2019
7
INC280 inhibits Wnt/β-catenin and EMT signaling pathways and its induce apoptosis in diffuse gastric cancer positive for c-MET amplification. ( 30871613 )
2019
8
Outcomes of Endoscopic Surveillance in Individuals With Genetic Predisposition to Hereditary Diffuse Gastric Cancer. ( 30935944 )
2019
9
Loss of LLGL1 Expression Correlates with Diffuse Gastric Cancer and Distant Peritoneal Metastases. ( 31058107 )
2019
10
The benefits of a model of interval comprehensive assessments (MICA) in hereditary cancer Syndromes: Hereditary diffuse gastric cancer (HDGC) as an example. ( 31109593 )
2019
11
Comparing intestinal versus diffuse gastric cancer using a PEFF-oriented proteomic pipeline. ( 29032071 )
2018
12
Outcomes after prophylactic gastrectomy for hereditary diffuse gastric cancer. ( 29341148 )
2018
13
Hereditary diffuse gastric cancer: One family's story. ( 29376063 )
2018
14
Endoscopic screening for hereditary diffuse gastric cancer: one size does not fit all. ( 29406927 )
2018
15
Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease. ( 29454568 )
2018
16
Merging perspectives: genotype-directed molecular therapy for hereditary diffuse gastric cancer (HDGC) and E-cadherin-EGFR crosstalk. ( 29468433 )
2018
17
Germline mutations in hereditary diffuse gastric cancer. ( 29545726 )
2018
18
Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer. ( 29577179 )
2018
19
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study. ( 29706558 )
2018
20
Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer. ( 29769627 )
2018
21
Hereditary diffuse gastric cancer: how to look for and how to manage it. ( 29869323 )
2018
22
Characterization of long non-coding RNAs and MEF2C-AS1 identified as a novel biomarker in diffuse gastric cancer. ( 30005210 )
2018
23
Therapeutic and prophylactic gastrectomy in a family with hereditary diffuse gastric cancer secondary to a CDH1 mutation: a case series. ( 30007404 )
2018
24
Pathological features of total gastrectomy specimens from asymptomatic hereditary diffuse gastric cancer patients and implications for clinical management. ( 30014492 )
2018
25
Diffuse Gastric Cancer: A Summary of Analogous Contributing Factors for Its Molecular Pathogenicity. ( 30115886 )
2018
26
Early genetic counseling and detection of CDH1 mutation in asymptomatic carriers improves survival in hereditary diffuse gastric cancer. ( 30145018 )
2018
27
RhoGAP domain-containing fusions and PPAPDC1A fusions are recurrent and prognostic in diffuse gastric cancer. ( 30361512 )
2018
28
Genetic analysis of a case of Helicobacter pylori-uninfected intramucosal gastric cancer in a family with hereditary diffuse gastric cancer. ( 30542785 )
2018
29
Early Hereditary Diffuse Gastric Cancer (eHDGC) is Characterized by Subtle Genomic Instability and Active DNA Damage Response. ( 30547291 )
2018
30
CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment. ( 30568591 )
2018
31
Hereditary Diffuse Gastric Cancer: More than What Meets the Endoscopic Eye. ( 30937153 )
2018
32
Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria. ( 28455161 )
2018
33
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. ( 28688938 )
2018
34
Neural Invasion is a Significant Contributor to Peritoneal Recurrence in Signet Ring Cell Gastric Carcinoma. ( 29450754 )
2018
35
68Ga-labelled PSMA (prostate specific membrane antigen) expression in signet-ring cell gastric carcinoma. ( 29572728 )
2018
36
Hereditary diffuse gastric cancer in two families: A case report. ( 28789394 )
2017
37
A phase III trial comparing oral S-1/cisplatin and intravenous 5-fluorouracil/cisplatin in patients with untreated diffuse gastric cancer. ( 28911091 )
2017
38
Early relapses after adjuvant chemotherapy suggests primary chemoresistance in diffuse gastric cancer. ( 28922362 )
2017
39
Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer. ( 29231860 )
2017
40
Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients. ( 27759617 )
2017
41
The Psychosocial Impact of Undergoing Prophylactic Total Gastrectomy (PTG) to Manage the Risk of Hereditary Diffuse Gastric Cancer (HDGC). ( 27837291 )
2017
42
Plasma microRNA-103, microRNA-107, and microRNA-194 levels are not biomarkers for human diffuse gastric cancer. ( 27909811 )
2017
43
Transcriptomic profiling and quantitative high-throughput (qHTS) drug screening of CDH1 deficient hereditary diffuse gastric cancer (HDGC) cells identify treatment leads for familial gastric cancer. ( 28460635 )
2017
44
Expression of hsa-miR-9 and MYC Copy Number Variation in Hereditary Diffuse Gastric Cancer. ( 28476807 )
2017
45
A multidisciplinary approach allows identification of a new pathogenic CDH1 germline missense mutation in a hereditary diffuse gastric cancer family. ( 28487081 )
2017
46
Telomere length is correlated with mitochondrial DNA copy number in intestinal, but not diffuse, gastric cancer. ( 28693253 )
2017
47
Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient. ( 28702897 )
2017
48
Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer. ( 27064202 )
2016
49
An investigation of the factors effecting high-risk individuals' decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer (HDGC). ( 27256430 )
2016
50
Cate's Story: Hereditary Diffuse Gastric Cancer. ( 27441520 )
2016

Variations for Diffuse Gastric Cancer

Cosmic variations for Diffuse Gastric Cancer:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM18876 APC breast,NS,carcinoma,tubular c.3316G>T p.G1106* 5:112838910-112838910 0
2 COSM18885 APC breast,NS,carcinoma,tubular c.4495G>T p.G1499* 5:112840089-112840089 0
3 COSM18883 APC breast,NS,carcinoma,tubular c.4390G>T p.E1464* 5:112839984-112839984 0
4 COSM18881 APC breast,NS,carcinoma,tubular c.5047G>T p.E1683* 5:112840641-112840641 0

Expression for Diffuse Gastric Cancer

Search GEO for disease gene expression data for Diffuse Gastric Cancer.

Pathways for Diffuse Gastric Cancer

Pathways related to Diffuse Gastric Cancer according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 CDH1 CTNNA1 GSTP1
2 11.98 CDH1 CTNNA1 GSTM1 GSTP1
3 11.76 GSTM1 GSTP1
4 11.74 CDH1 CTNNA1
5 11.73 GSTM1 GSTP1
6 11.69 CDH1 CTNNA1
7 11.67 CDH1 CTNNA1
8
Show member pathways
11.59 CDH1 CTNNA1 GSTM1 GSTP1
9
Show member pathways
11.46 GSTM1 GSTP1
10 11.42 CDH1 CTNNA1
11 11.4 GSTM1 GSTP1
12 11.38 CDH1 CTNNA1
13 11.15 CDH1 CTNNA1
14
Show member pathways
11.14 GSTM1 GSTP1
15 11.08 CDH1 CTNNA1
16 11.06 CDH1 CTNNA1
17 10.99 CDH1 CTNNA1
18 10.95 CDH1 CTNNA1
19 10.87 GSTM1 GSTP1
20 10.77 CDH1 CTNNA1
21 10.7 GSTM1 GSTP1
22 10.54 CDH1 CTNNA1
23 10.27 CDH1 CTNNA1

GO Terms for Diffuse Gastric Cancer

Cellular components related to Diffuse Gastric Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell adherens junction GO:0005913 9.16 CDH1 CTNNA1
2 catenin complex GO:0016342 8.96 CDH1 CTNNA1
3 flotillin complex GO:0016600 8.62 CDH1 CTNNA1

Biological processes related to Diffuse Gastric Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to toxic substance GO:0009636 9.37 CDH1 GSTP1
2 adherens junction organization GO:0034332 9.32 CDH1 CTNNA1
3 glutathione metabolic process GO:0006749 9.26 GSTM1 GSTP1
4 cellular response to glucocorticoid stimulus GO:0071385 9.16 GSTP1 HNRNPU
5 glutathione derivative biosynthetic process GO:1901687 8.96 GSTM1 GSTP1
6 cellular response to indole-3-methanol GO:0071681 8.62 CDH1 CTNNA1

Molecular functions related to Diffuse Gastric Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 9.26 CDH1 CTNNA1
2 glutathione transferase activity GO:0004364 9.16 GSTM1 GSTP1
3 gamma-catenin binding GO:0045295 8.96 CDH1 CTNNA1
4 glutathione binding GO:0043295 8.62 GSTM1 GSTP1

Sources for Diffuse Gastric Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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