MCID: DFF019
MIFTS: 43

Diffuse Gastric Cancer

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

Aliases & Classifications for Diffuse Gastric Cancer

MalaCards integrated aliases for Diffuse Gastric Cancer:

Name: Diffuse Gastric Cancer 49
Signet Ring Cell Gastric Carcinoma 49
Signet Ring Gastric Carcinoma 49
Gastric Signet Ring Carcinoma 69
Carcinoma, Signet Ring Cell 69
Signet Ring Cell Carcinoma 49
Signet Cell Adenocarcinoma 49

Classifications:



External Ids:

UMLS 69 C2064167

Summaries for Diffuse Gastric Cancer

NIH Rare Diseases : 49 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). Last updated: 2/1/2016

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 skin, 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 53)
# 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 TGFBR2
3 lynch syndrome 29.5 GSTM1 GSTP1 GSTT1
4 bile duct signet ring cell carcinoma 12.4
5 breast signet ring cell adenocarcinoma 11.7
6 gallbladder signet ring cell adenocarcinoma 11.6
7 signet ring cell adenocarcinoma 11.5
8 pancreatic signet ring cell adenocarcinoma 11.5
9 ampullary signet ring cell adenocarcinoma 11.4
10 prostate signet ring cell adenocarcinoma 11.4
11 prostate cancer 11.2
12 prostate cancer, hereditary, 1 11.2
13 prostate cancer, hereditary, 12 11.2
14 prostate cancer, hereditary, 13 11.2
15 prostate cancer, hereditary, 11 11.2
16 prostate cancer, hereditary, 2 11.2
17 familial stomach cancer 11.1
18 hypotrichosis, congenital, with juvenile macular dystrophy 10.4 CDH1 CDH3
19 hearing loss, noise-induced 10.3 GSTM1 GSTT1
20 gastric diffuse adenocarcinoma 10.3 CDH1 CTNNA1
21 sister chromatid exchange, frequency of 10.3 GSTM1 GSTT1
22 isolated cleft lip 10.2 GSTM1 GSTT1
23 microinvasive gastric cancer 10.2 CDH1 CTNNA1
24 oral submucous fibrosis 10.2 CDH1 GSTM1 GSTT1
25 oral cancer 10.2 CDH1 GSTM1 GSTT1
26 asbestosis 10.2 GSTM1 GSTP1 GSTT1
27 oral leukoplakia 10.1 GSTM1 GSTT1
28 larynx cancer 10.1 GSTM1 GSTP1 GSTT1
29 xeroderma pigmentosum, complementation group f 10.0 ERCC1 ERCC2 XRCC3
30 squamous cell carcinoma, head and neck 10.0 CDH1 GSTM1 GSTP1 GSTT1
31 nasopharyngeal carcinoma 10.0 CDH1 GSTM1 GSTT1 TGFBR2
32 autosomal genetic disease 10.0 ERCC1 ERCC2 XRCC3
33 xeroderma pigmentosum, variant type 9.9 ERCC1 ERCC2 XRCC3
34 cerebro-oculo-facio-skeletal syndrome 9.8 ERCC1 ERCC2
35 mutagen sensitivity 9.8 ERCC2 GSTM1 GSTT1 XRCC3
36 bladder cancer 9.8 CDH1 CTNNA1 GSTM1 GSTP1 GSTT1
37 breast cancer 9.8
38 cleft lip 9.8
39 cleft palate, isolated 9.6
40 li-fraumeni syndrome 9.6
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.6
42 aging 9.6
43 li-fraumeni syndrome 2 9.6
44 crohn's disease 9.6
45 pancreatic ductal adenocarcinoma 9.6
46 adenocarcinoma 9.6
47 pancreatitis 9.6
48 peritonitis 9.6
49 cleft lip/palate 9.6
50 esophageal cancer 9.6 CDH1 ERCC1 GSTM1 GSTP1 GSTT1 TGFBR2

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:

43
# 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 17)
# 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
s 1 (combination) Phase 3
5 Immunosuppressive Agents Phase 3
6 Antimetabolites Phase 3
7 Antimetabolites, Antineoplastic Phase 3
8
nivolumab Approved Phase 2 946414-94-4
9 Alkylating Agents Phase 1, Phase 2
10 Mitomycins Phase 1, Phase 2
11 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2
12 Anti-Bacterial Agents Phase 1, Phase 2
13 Antibiotics, Antitubercular Phase 1, Phase 2
14 Antibodies, Monoclonal Phase 2
15 Immunoglobulins Phase 2
16 Antibodies Phase 2
17 Cola Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diffuse Gastric and Esophagogastric Junction Cancer S-1 Trial Active, not recruiting 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 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Recruiting NCT02978625 Phase 2
4 QUILT-3.017: Study of NEO-201 in Solid Tumors Not yet recruiting NCT03476681 Phase 1 NEO-201
5 Signet Ring Cell Carcinoma in Esophageal Adenocarcinoma Completed NCT01824966
6 Prognosis of Signet Ring Cells in Upper Digestive Neoplasms Completed NCT01249859
7 NBI for Identifying Resection Margin Status in Gastric Cancer Completed NCT02926716
8 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
9 Early Onset and Familial Gastric Cancer Registry Active, not recruiting NCT00582257
10 Endodrill vs. Conventional Biopsy. Evaluation of Diagnostic Capacity in Diffuse Gastric Cancer Not yet recruiting NCT02594943

Search NIH Clinical Center for Diffuse Gastric Cancer

Genetic Tests for Diffuse Gastric Cancer

Anatomical Context for Diffuse Gastric Cancer

MalaCards organs/tissues related to Diffuse Gastric Cancer:

38
Skin, Prostate, Lung, Pancreas, Testes

Publications for Diffuse Gastric Cancer

Articles related to Diffuse Gastric Cancer:

(show top 50) (show all 154)
# Title Authors Year
1
Endoscopic screening for hereditary diffuse gastric cancer: oneA size does not fit all. ( 29406927 )
2018
2
Comparing intestinal versus diffuse gastric cancer using a PEFF-oriented proteomic pipeline. ( 29032071 )
2018
3
Outcomes after prophylactic gastrectomy for hereditary diffuse gastric cancer. ( 29341148 )
2018
4
Hereditary diffuse gastric cancer: One family's story. ( 29376063 )
2018
5
A phase III trial comparing oral S-1/cisplatin and intravenous 5-fluorouracil/cisplatin in patients with untreated diffuse gastric cancer. ( 28911091 )
2017
6
Early relapses after adjuvant chemotherapy suggests primary chemoresistance in diffuse gastric cancer. ( 28922362 )
2017
7
Telomere length is correlated with mitochondrial DNA copy number in intestinal, but not diffuse, gastric cancer. ( 28693253 )
2017
8
Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient. ( 28702897 )
2017
9
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
10
A multidisciplinary approach allows identification of a new pathogenic CDH1 germline missense mutation in a hereditary diffuse gastric cancer family. ( 28487081 )
2017
11
Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer. ( 29231860 )
2017
12
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. ( 28688938 )
2017
13
Hereditary diffuse gastric cancer in two families: A case report. ( 28789394 )
2017
14
Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers. ( 28522256 )
2017
15
Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria. ( 28455161 )
2017
16
Expression of hsa-miR-9 and MYC Copy Number Variation in Hereditary Diffuse Gastric Cancer. ( 28476807 )
2017
17
Prophylactic Total Gastrectomy for Hereditary Diffuse Gastric Cancer. ( 28008412 )
2016
18
A novel mutation in the CDH1 gene in a Spanish family with hereditary diffuse gastric cancer. ( 27512640 )
2016
19
Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future. ( 27573781 )
2016
20
Early diagnosis of hereditary diffuse gastric cancer: (not only) an endoscopic challenge! ( 27995194 )
2016
21
PanelA testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer. ( 27064202 )
2016
22
Plasma microRNA-103, microRNA-107, and microRNA-194 levels are not biomarkers for human diffuse gastric cancer. ( 27909811 )
2016
23
Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients. ( 27759617 )
2016
24
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
25
Cate's Story: Hereditary Diffuse Gastric Cancer. ( 27441520 )
2016
26
The Psychosocial Impact of Undergoing Prophylactic Total Gastrectomy (PTG) to Manage the Risk of Hereditary Diffuse Gastric Cancer (HDGC). ( 27837291 )
2016
27
MicroRNAs in hereditary diffuse gastric cancer. ( 27446532 )
2016
28
Hereditary diffuse gastric cancer: laparoscopic surgical approach associated to rare mutattion of CDH1 gene. ( 26176257 )
2015
29
Hereditary diffuse gastric cancer--An overview. ( 26150395 )
2015
30
Error in Byline. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. ( 26182313 )
2015
31
1229: BEYOND HELLP: PERIPARTUM CATASTROPHIC THROMBOEMBOLISM DUE TO HEREDITARY DIFFUSE GASTRIC CANCER. ( 26570890 )
2015
32
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. ( 26182300 )
2015
33
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1. ( 26072394 )
2015
34
Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation. ( 26025002 )
2015
35
CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer. ( 25981591 )
2015
36
Recognition of and recent issues in hereditary diffuse gastric cancer. ( 26049741 )
2015
37
Association between Promoter Polymorphisms of TFF1, TFF2, and TFF3 and the Risk of Gastric and Diffuse Gastric Cancers in a Korean Population. ( 26240479 )
2015
38
Hereditary diffuse gastric cancer: What the clinician should know. ( 26380059 )
2015
39
[Hereditary diffuse gastric cancer]. ( 25875520 )
2015
40
Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer. ( 25576241 )
2015
41
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. ( 25979631 )
2015
42
Association between the epithelial cadherin -160C/A gene polymorphism and diffuse gastric cancer risk: a meta-analysis. ( 24615049 )
2014
43
Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with hereditary diffuse gastric cancer (HDGC) syndrome. ( 24493355 )
2014
44
Genetic screening analysis of patients with hereditary diffuse gastric cancer from northern and northeastern Brazil. ( 25180051 )
2014
45
Hereditary diffuse gastric cancer associated with E-cadherin germline mutation: a case report. ( 25089230 )
2014
46
Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study. ( 24389957 )
2014
47
RhoA mutations identified in diffuse gastric cancer. ( 25026207 )
2014
48
Hereditary diffuse gastric cancer - pathophysiology and clinical management. ( 25439071 )
2014
49
pRb2/p130 is Delocalized in Cytoplasm in Diffuse Gastric Cancer: A Preliminary Study. ( 25205458 )
2014
50
Detection of CDH1 gene variants in early-onset diffuse gastric cancer in Chinese patients. ( 25648022 )
2014

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 Conf
1 COSM18883 APC breast,NS,carcinoma,tubular c.4390G>T p.E1464* 8
2 COSM18881 APC breast,NS,carcinoma,tubular c.5047G>T p.E1683* 8
3 COSM18876 APC breast,NS,carcinoma,tubular c.3316G>T p.G1106* 8
4 COSM18885 APC breast,NS,carcinoma,tubular c.4495G>T p.G1499* 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-cell adherens junction GO:0005913 9.33 CDH1 CDH3 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to organic substance GO:0010033 9.63 CDH1 TGFBR2 XRCC3
2 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.51 ERCC1 ERCC2
3 glutathione metabolic process GO:0006749 9.5 GSTM1 GSTP1 GSTT1
4 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.49 ERCC1 ERCC2
5 axon regeneration GO:0031103 9.48 CTNNA1 MTR
6 UV protection GO:0009650 9.43 ERCC1 ERCC2
7 t-circle formation GO:0090656 9.4 ERCC1 XRCC3
8 hair cycle process GO:0022405 9.37 CDH3 ERCC2
9 adherens junction organization GO:0034332 9.33 CDH1 CDH3 CTNNA1
10 cellular response to indole-3-methanol GO:0071681 9.26 CDH1 CTNNA1
11 negative regulation of leukocyte proliferation GO:0070664 8.96 CCL8 GSTP1
12 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 single-stranded DNA binding GO:0003697 9.43 ERCC1 HNRNPU XRCC3
2 glutathione peroxidase activity GO:0004602 9.32 GSTP1 GSTT1
3 glutathione binding GO:0043295 9.16 GSTM1 GSTP1
4 gamma-catenin binding GO:0045295 8.96 CDH1 CTNNA1
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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