MCID: DFF019
MIFTS: 44

Diffuse Gastric Cancer

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



External Ids:

UMLS 73 C2064167

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, skin and prostate, 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 52)
# Related Disease Score Top Affiliating Genes
1 gastric cancer, hereditary diffuse 34.5 CDH1 CTNNA1
2 gastric cancer 31.9 CDH1 CTNNA1 GSTP1 MIR107 TGFBR2
3 bile duct signet ring cell carcinoma 12.4
4 breast signet ring cell adenocarcinoma 11.7
5 gallbladder signet ring cell adenocarcinoma 11.5
6 pancreatic signet ring cell adenocarcinoma 11.5
7 signet ring cell adenocarcinoma 11.4
8 ampullary signet ring cell adenocarcinoma 11.4
9 prostate signet ring cell adenocarcinoma 11.4
10 prostate cancer 11.2
11 prostate cancer, hereditary, 1 11.2
12 prostate cancer, hereditary, 12 11.2
13 prostate cancer, hereditary, 13 11.2
14 prostate cancer, hereditary, 11 11.2
15 prostate cancer, hereditary, 2 11.2
16 familial stomach cancer 11.1
17 hypotrichosis, congenital, with juvenile macular dystrophy 10.7 CDH1 CDH3
18 gastric diffuse adenocarcinoma 10.5 CDH1 CTNNA1
19 hearing loss, noise-induced 10.5 GSTM1 GSTT1
20 sister chromatid exchange, frequency of 10.5 GSTM1 GSTT1
21 isolated cleft lip 10.4 GSTM1 GSTT1
22 oral submucous fibrosis 10.3 CDH1 GSTM1 GSTT1
23 oral cancer 10.3 CDH1 GSTM1 GSTT1
24 respiratory system cancer 10.3 CDH1 ERCC1 GSTM1
25 asbestosis 10.3 GSTM1 GSTP1 GSTT1
26 larynx cancer 10.1 GSTM1 GSTP1 GSTT1
27 xeroderma pigmentosum, complementation group f 10.0 ERCC1 ERCC2 XRCC3
28 autosomal genetic disease 10.0 ERCC1 ERCC2 XRCC3
29 cerebro-oculo-facio-skeletal syndrome 10.0 ERCC1 ERCC2
30 squamous cell carcinoma, head and neck 10.0 CDH1 GSTM1 GSTP1 GSTT1
31 breast cancer 9.9
32 oral cavity cancer 9.9 CDH1 ERCC1 GSTM1 GSTT1
33 cleft lip 9.8
34 mutagen sensitivity 9.7 ERCC2 GSTM1 GSTT1 XRCC3
35 cleft palate, isolated 9.6
36 li-fraumeni syndrome 9.6
37 aging 9.6
38 li-fraumeni syndrome 2 9.6
39 crohn's disease 9.6
40 pancreatic ductal adenocarcinoma 9.6
41 adenocarcinoma 9.6
42 lynch syndrome 9.6
43 pancreatitis 9.6
44 peritonitis 9.6
45 cleft lip/palate 9.6
46 xeroderma pigmentosum, variant type 9.6 ERCC1 ERCC2 XRCC3
47 bladder cancer 9.3 CDH1 GSTM1 GSTP1 GSTT1 MIR103A1
48 basal cell carcinoma 9.3 ERCC1 ERCC2 GSTM1 GSTT1 XRCC3
49 xeroderma pigmentosum, complementation group d 9.0 ERCC1 ERCC2 GSTM1 GSTP1 GSTT1 XRCC3
50 esophageal cancer 8.8 CDH1 ERCC1 GSTM1 GSTP1 GSTT1 MIR107

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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 3,Phase 1,Phase 2 15663-27-1 84093 441203 2767
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 Phase 2
15 Immunoglobulins Phase 2
16 Antibodies, Monoclonal Phase 2
17 Cola Nutraceutical Phase 1, Phase 2

Interventional clinical trials:

(show all 11)
# 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 Socioeconomic Position in Acute Colorectal Cancer Surgery Active, not recruiting NCT03581890
11 Endodrill vs. Conventional Biopsy. Evaluation of Diagnostic Capacity in Diffuse Gastric Cancer Not yet recruiting 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, Skin, Prostate, Pancreas, Lung, Testes

Publications for Diffuse Gastric Cancer

Articles related to Diffuse Gastric Cancer:

(show top 50) (show all 164)
# 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
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
14
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. ( 28688938 )
2017
15
Expression of hsa-miR-9 and MYC Copy Number Variation in Hereditary Diffuse Gastric Cancer. ( 28476807 )
2017
16
Hereditary diffuse gastric cancer in two families: A case report. ( 28789394 )
2017
17
Telomere length is correlated with mitochondrial DNA copy number in intestinal, but not diffuse, gastric cancer. ( 28693253 )
2017
18
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
19
Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient. ( 28702897 )
2017
20
A multidisciplinary approach allows identification of a new pathogenic CDH1 germline missense mutation in a hereditary diffuse gastric cancer family. ( 28487081 )
2017
21
Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria. ( 28455161 )
2017
22
Early relapses after adjuvant chemotherapy suggests primary chemoresistance in diffuse gastric cancer. ( 28922362 )
2017
23
Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer. ( 29231860 )
2017
24
A phase III trial comparing oral S-1/cisplatin and intravenous 5-fluorouracil/cisplatin in patients with untreated diffuse gastric cancer. ( 28911091 )
2017
25
Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future. ( 27573781 )
2016
26
The Psychosocial Impact of Undergoing Prophylactic Total Gastrectomy (PTG) to Manage the Risk of Hereditary Diffuse Gastric Cancer (HDGC). ( 27837291 )
2016
27
PanelA testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer. ( 27064202 )
2016
28
Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients. ( 27759617 )
2016
29
Cate's Story: Hereditary Diffuse Gastric Cancer. ( 27441520 )
2016
30
Early diagnosis of hereditary diffuse gastric cancer: (not only) an endoscopic challenge! ( 27995194 )
2016
31
A novel mutation in the CDH1 gene in a Spanish family with hereditary diffuse gastric cancer. ( 27512640 )
2016
32
MicroRNAs in hereditary diffuse gastric cancer. ( 27446532 )
2016
33
Plasma microRNA-103, microRNA-107, and microRNA-194 levels are not biomarkers for human diffuse gastric cancer. ( 27909811 )
2016
34
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
35
Prophylactic Total Gastrectomy for Hereditary Diffuse Gastric Cancer. ( 28008412 )
2016
36
[Hereditary diffuse gastric cancer]. ( 25875520 )
2015
37
Error in Byline. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. ( 26182313 )
2015
38
Hereditary diffuse gastric cancer: laparoscopic surgical approach associated to rare mutattion of CDH1 gene. ( 26176257 )
2015
39
Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer. ( 25576241 )
2015
40
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1. ( 26072394 )
2015
41
Association between Promoter Polymorphisms of TFF1, TFF2, and TFF3 and the Risk of Gastric and Diffuse Gastric Cancers in a Korean Population. ( 26240479 )
2015
42
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. ( 25979631 )
2015
43
[Current status of the study on hereditary diffuse gastric cancer]. ( 25809335 )
2015
44
1229: BEYOND HELLP: PERIPARTUM CATASTROPHIC THROMBOEMBOLISM DUE TO HEREDITARY DIFFUSE GASTRIC CANCER. ( 26570890 )
2015
45
Hereditary diffuse gastric cancer: What the clinician should know. ( 26380059 )
2015
46
Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation. ( 26025002 )
2015
47
Recognition of and recent issues in hereditary diffuse gastric cancer. ( 26049741 )
2015
48
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. ( 26182300 )
2015
49
Hereditary diffuse gastric cancer--An overview. ( 26150395 )
2015
50
CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer. ( 25981591 )
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-cell adherens junction GO:0005913 9.33 CDH1 CDH3 CTNNA1
2 flotillin complex GO:0016600 8.96 CDH1 CTNNA1
3 catenin complex GO:0016342 8.8 CDH1 CDH3 CTNNA1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to organic substance GO:0010033 9.65 CDH1 TGFBR2 XRCC3
2 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.52 ERCC1 ERCC2
3 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.51 ERCC1 ERCC2
4 glutathione metabolic process GO:0006749 9.5 GSTM1 GSTP1 GSTT1
5 axon regeneration GO:0031103 9.49 CTNNA1 MTR
6 mitotic recombination GO:0006312 9.46 ERCC1 XRCC3
7 UV protection GO:0009650 9.43 ERCC1 ERCC2
8 t-circle formation GO:0090656 9.4 ERCC1 XRCC3
9 hair cycle process GO:0022405 9.37 CDH3 ERCC2
10 adherens junction organization GO:0034332 9.33 CDH1 CDH3 CTNNA1
11 cellular response to indole-3-methanol GO:0071681 9.26 CDH1 CTNNA1
12 negative regulation of leukocyte proliferation GO:0070664 8.96 CCL8 GSTP1
13 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
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
Content
Loading form....