MCID: DFF019
MIFTS: 43

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 53
Signet Ring Cell Gastric Carcinoma 53
Diffuse Gastric Cancer Syndrome 29
Signet Ring Gastric Carcinoma 53
Gastric Signet Ring Carcinoma 73
Carcinoma, Signet Ring Cell 73
Signet Ring Cell Carcinoma 53
Signet Cell Adenocarcinoma 53
Cancer, Gastric, Diffuse 40

Classifications:



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Summaries for Diffuse Gastric Cancer

NIH Rare Diseases : 53 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 Pathways in cancer and Gastric cancer. The drugs Cisplatin and Tegafur have been mentioned in the context of this disorder. Affiliated tissues include breast, prostate and lung, and related phenotype is neoplasm.

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 116)
# Related Disease Score Top Affiliating Genes
1 gastric cancer, hereditary diffuse 34.2 CDH1 CTNNA1
2 gastric cancer 32.0 CDH1 CTNNA1 GSTM1 GSTP1 GSTT1 MIR107
3 basal cell carcinoma 29.8 ERCC1 ERCC2 GSTM1 GSTT1 XRCC3
4 bile duct signet ring cell carcinoma 12.5
5 signet ring cell adenocarcinoma 12.3
6 pancreatic signet ring cell adenocarcinoma 11.9
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 11.5
11 prostate signet ring cell adenocarcinoma 11.5
12 prostate cancer 11.3
13 prostate cancer, hereditary, 1 11.3
14 prostate cancer, hereditary, 12 11.3
15 prostate cancer, hereditary, 13 11.3
16 prostate cancer, hereditary, 11 11.3
17 prostate cancer, hereditary, 2 11.3
18 familial stomach cancer 11.2
19 mucinous adenocarcinoma 10.4
20 microinvasive gastric cancer 10.3
21 eyelid carcinoma 10.3
22 hemolytic anemia 10.2
23 colitis 10.2
24 cardiac tamponade 10.2
25 tubular adenocarcinoma 10.2
26 hypotrichosis, congenital, with juvenile macular dystrophy 10.2 CDH1 CDH3
27 gastric diffuse adenocarcinoma 10.2 CDH1 CTNNA1
28 hearing loss, noise-induced 10.2 GSTM1 GSTT1
29 sister chromatid exchange, frequency of 10.2 GSTM1 GSTT1
30 intussusception 10.1
31 myositis 10.1
32 bile duct cysts 10.1
33 small cell carcinoma 10.1
34 lymphoma 10.1
35 clostridium difficile colitis 10.1
36 crohn's colitis 10.1
37 gastric adenocarcinoma 10.1
38 linitis plastica 10.1
39 adenoma 10.1
40 isolated cleft lip 10.1 GSTM1 GSTT1
41 laryngeal disease 10.1 CDH1 GSTM1 GSTT1
42 respiratory system cancer 10.1 CDH1 ERCC1 GSTM1
43 oral submucous fibrosis 10.1 CDH1 GSTM1 GSTT1
44 bladder disease 10.1 CDH1 GSTM1 GSTT1
45 oral cancer 10.1 CDH1 GSTM1 GSTT1
46 aortic aneurysm 10.1
47 viral infectious disease 10.1
48 cardia cancer 10.1 GSTM1 GSTP1 GSTT1
49 xeroderma pigmentosum, complementation group f 10.1 ERCC1 ERCC2 XRCC3
50 asbestosis 10.1 GSTM1 GSTP1 GSTT1

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



Diseases related to Diffuse Gastric Cancer

Symptoms & Phenotypes for Diffuse Gastric Cancer

MGI Mouse Phenotypes related to Diffuse Gastric Cancer:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.1 CDH1 CTNNA1 DOT1L ERCC1 ERCC2 TGFBR2

Drugs & Therapeutics for Diffuse Gastric Cancer

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 3,Phase 1,Phase 2 15663-27-1 2767 441203 84093
2
Tegafur Approved, Investigational Phase 3 17902-23-7 5386
3
Fluorouracil Approved Phase 3 51-21-8 3385
4 Antimetabolites Phase 3
5 Immunosuppressive Agents Phase 3
6 Antimetabolites, Antineoplastic Phase 3
7
s 1 (combination) Phase 3
8 Immunologic Factors Phase 3,Phase 2
9
Nivolumab Approved Phase 2 946414-94-4
10
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
11
Polyestradiol phosphate Approved Phase 2 28014-46-2
12
Fulvestrant Approved, Investigational Phase 2 129453-61-8 17756771 104741
13 Estradiol valerate Approved, Investigational, Vet_approved Phase 2 979-32-8
14
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
15 Anti-Bacterial Agents Phase 1, Phase 2
16 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2
17 Antibiotics, Antitubercular Phase 1, Phase 2
18 Alkylating Agents Phase 1, Phase 2
19 Mitomycins Phase 1, Phase 2
20 Cola Phase 1, Phase 2
21 Antibodies, Monoclonal Phase 2,Phase 1
22 Antibodies Phase 2,Phase 1
23 Immunoglobulins Phase 2,Phase 1
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
25 Estradiol 17 beta-cypionate Phase 2
26 Estradiol 3-benzoate Phase 2
27 Estrogen Antagonists Phase 2
28 Hormones Phase 2
29 Pharmaceutical Solutions Phase 2
30 Hormone Antagonists Phase 2
31 Protein Kinase Inhibitors Phase 2
32 Antineoplastic Agents, Hormonal Phase 2
33 Estrogen Receptor Antagonists Phase 2
34 Estrogens Phase 2

Interventional clinical trials:

(show all 13)
# 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 Signet Ring Cell Carcinoma in Esophageal Adenocarcinoma Completed NCT01824966
8 Prognosis of Signet Ring Cells in Upper Digestive Neoplasms Completed NCT01249859
9 NBI for Identifying Resection Margin Status in Gastric Cancer Completed NCT02926716
10 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
11 Early Onset and Familial Gastric Cancer Registry Active, not recruiting NCT00582257
12 Socioeconomic Position in Acute Colorectal Cancer Surgery Active, not recruiting NCT03581890
13 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 29

Anatomical Context for Diffuse Gastric Cancer

MalaCards organs/tissues related to Diffuse Gastric Cancer:

41
Breast, Prostate, Lung, Skin, Pancreas, Testes, Ovary

Publications for Diffuse Gastric Cancer

Articles related to Diffuse Gastric Cancer:

(show top 50) (show all 189)
# Title Authors Year
1
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
2
Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand MA8ori. ( 29589180 )
2018
3
Hereditary diffuse gastric cancer: how to look for and how to manage it. ( 29869323 )
2018
4
Endoscopic screening for hereditary diffuse gastric cancer: oneA size does not fit all. ( 29406927 )
2018
5
Outcomes after prophylactic gastrectomy for hereditary diffuse gastric cancer. ( 29341148 )
2018
6
Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer. ( 29577179 )
2018
7
Merging perspectives: genotype-directed molecular therapy for hereditary diffuse gastric cancer (HDGC) and E-cadherin-EGFR crosstalk. ( 29468433 )
2018
8
Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer. ( 29769627 )
2018
9
Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease. ( 29454568 )
2018
10
Comparing intestinal versus diffuse gastric cancer using a PEFF-oriented proteomic pipeline. ( 29032071 )
2018
11
Hereditary diffuse gastric cancer: One family's story. ( 29376063 )
2018
12
Germline mutations in hereditary diffuse gastric cancer. ( 29545726 )
2018
13
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 )
2018
14
Characterization of long non-coding RNAs and MEF2C-AS1 identified as a novel biomarker in diffuse gastric cancer. ( 30005210 )
2018
15
Therapeutic and prophylactic gastrectomy in a family with hereditary diffuse gastric cancer secondary to a CDH1 mutation: a case series. ( 30007404 )
2018
16
Pathological features of total gastrectomy specimens from asymptomatic hereditary diffuse gastric cancer patients and implications for clinical management. ( 30014492 )
2018
17
Diffuse Gastric Cancer: A Summary of Analogous Contributing Factors for Its Molecular Pathogenicity. ( 30115886 )
2018
18
Early genetic counseling and detection of CDH1 mutation in asymptomatic carriers improves survival in hereditary diffuse gastric cancer. ( 30145018 )
2018
19
RhoGAP domain-containing fusions and PPAPDC1A fusions are recurrent and prognostic in diffuse gastric cancer. ( 30361512 )
2018
20
Is prophylactic gastrectomy indicated for healthy carriers of CDH1 gene mutations associated with hereditary diffuse gastric cancer? ( 30466290 )
2018
21
Genetic analysis of a case of Helicobacter pylori-uninfected intramucosal gastric cancer in a family with hereditary diffuse gastric cancer. ( 30542785 )
2018
22
Early Hereditary Diffuse Gastric Cancer (eHDGC) is Characterized by Subtle Genomic Instability and Active DNA Damage Response. ( 30547291 )
2018
23
Neural Invasion is a Significant Contributor to Peritoneal Recurrence in Signet Ring Cell Gastric Carcinoma. ( 29450754 )
2018
24
68Ga-labelled PSMA (prostate specific membrane antigen) expression in signet-ring cell gastric carcinoma. ( 29572728 )
2018
25
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
26
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. ( 28688938 )
2017
27
Expression of hsa-miR-9 and MYC Copy Number Variation in Hereditary Diffuse Gastric Cancer. ( 28476807 )
2017
28
Hereditary diffuse gastric cancer in two families: A case report. ( 28789394 )
2017
29
Telomere length is correlated with mitochondrial DNA copy number in intestinal, but not diffuse, gastric cancer. ( 28693253 )
2017
30
Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient. ( 28702897 )
2017
31
A multidisciplinary approach allows identification of a new pathogenic CDH1 germline missense mutation in a hereditary diffuse gastric cancer family. ( 28487081 )
2017
32
Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria. ( 28455161 )
2017
33
Early relapses after adjuvant chemotherapy suggests primary chemoresistance in diffuse gastric cancer. ( 28922362 )
2017
34
Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer. ( 29231860 )
2017
35
A phase III trial comparing oral S-1/cisplatin and intravenous 5-fluorouracil/cisplatin in patients with untreated diffuse gastric cancer. ( 28911091 )
2017
36
Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future. ( 27573781 )
2016
37
The Psychosocial Impact of Undergoing Prophylactic Total Gastrectomy (PTG) to Manage the Risk of Hereditary Diffuse Gastric Cancer (HDGC). ( 27837291 )
2016
38
PanelA testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer. ( 27064202 )
2016
39
Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients. ( 27759617 )
2016
40
Cate's Story: Hereditary Diffuse Gastric Cancer. ( 27441520 )
2016
41
Early diagnosis of hereditary diffuse gastric cancer: (not only) an endoscopic challenge! ( 27995194 )
2016
42
A novel mutation in the CDH1 gene in a Spanish family with hereditary diffuse gastric cancer. ( 27512640 )
2016
43
MicroRNAs in hereditary diffuse gastric cancer. ( 27446532 )
2016
44
Plasma microRNA-103, microRNA-107, and microRNA-194 levels are not biomarkers for human diffuse gastric cancer. ( 27909811 )
2016
45
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
46
Prophylactic Total Gastrectomy for Hereditary Diffuse Gastric Cancer. ( 28008412 )
2016
47
Erratum to: Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future. ( 27778307 )
2016
48
Widespread osteoblastic metastases and marked elevation of CA19-9 as a presentation of signet ring cell gastric carcinoma. ( 27034800 )
2016
49
[Hereditary diffuse gastric cancer]. ( 25875520 )
2015
50
Error in Byline. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. ( 26182313 )
2015

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 COSM18881 APC breast,NS,carcinoma,tubular c.5047G>T p.E1683* 5:112840641-112840641 8
2 COSM18876 APC breast,NS,carcinoma,tubular c.3316G>T p.G1106* 5:112838910-112838910 8
3 COSM18885 APC breast,NS,carcinoma,tubular c.4495G>T p.G1499* 5:112840089-112840089 8
4 COSM18883 APC breast,NS,carcinoma,tubular c.4390G>T p.E1464* 5:112839984-112839984 8

Expression for Diffuse Gastric Cancer

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

Pathways for Diffuse Gastric Cancer

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 GO:0005623 9.43 CCL7 CCL8 MIR103A1
2 cell-cell adherens junction GO:0005913 9.33 CDH1 CDH3 CTNNA1
3 flotillin complex GO:0016600 8.96 CDH1 CTNNA1
4 catenin complex GO:0016342 8.8 CDH1 CDH3 CTNNA1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular response to insulin stimulus GO:0032869 9.67 GSTP1 MIR103A1 MIR107
2 response to organic substance GO:0010033 9.65 CDH1 TGFBR2 XRCC3
3 eosinophil chemotaxis GO:0048245 9.55 CCL7 CCL8
4 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.54 ERCC1 ERCC2
5 axon regeneration GO:0031103 9.52 CTNNA1 MTR
6 negative regulation of glucose import GO:0046325 9.51 MIR103A1 MIR107
7 UV protection GO:0009650 9.46 ERCC1 ERCC2
8 t-circle formation GO:0090656 9.43 ERCC1 XRCC3
9 adherens junction organization GO:0034332 9.43 CDH1 CDH3 CTNNA1
10 positive regulation of gluconeogenesis GO:0045722 9.4 MIR103A1 MIR107
11 hair cycle process GO:0022405 9.37 CDH3 ERCC2
12 glutathione metabolic process GO:0006749 9.33 GSTM1 GSTP1 GSTT1
13 cellular response to indole-3-methanol GO:0071681 9.32 CDH1 CTNNA1
14 negative regulation of leukocyte proliferation GO:0070664 8.96 CCL8 GSTP1
15 glutathione derivative biosynthetic process GO:1901687 8.8 GSTM1 GSTP1 GSTT1

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

# Name GO ID Score Top Affiliating Genes
1 glutathione peroxidase activity GO:0004602 9.32 GSTP1 GSTT1
2 gamma-catenin binding GO:0045295 9.26 CDH1 CTNNA1
3 glutathione binding GO:0043295 9.16 GSTM1 GSTP1
4 CCR2 chemokine receptor binding GO:0031727 8.96 CCL7 CCL8
5 glutathione transferase activity GO:0004364 8.8 GSTM1 GSTP1 GSTT1

Sources for Diffuse Gastric Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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