MCID: GST103
MIFTS: 54

Gastric Cancer, Hereditary Diffuse

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

Aliases & Classifications for Gastric Cancer, Hereditary Diffuse

MalaCards integrated aliases for Gastric Cancer, Hereditary Diffuse:

Name: Gastric Cancer, Hereditary Diffuse 57 53 38
Hereditary Diffuse Gastric Cancer 24 53 25 59 75 29 6 73
Hdgc 57 24 53 25 59 75
Hereditary Diffuse Gastric Adenocarcinoma 53 25 59
Familial Diffuse Gastric Cancer 53 25 59
Fdgc 53 25 59
Gastric Cancer, Familial Diffuse, with or Without Cleft Lip and/or Palate 57 13
Hereditary Diffuse Cancer of Stomach 53 59
Familial Diffuse Cancer of Stomach 53 59
Gastric Cancer, Familial Diffuse 57 53
Gastric Cancer, Somatic 57 13
Gastric Cancer, Familial Diffuse, and Cleft Lip with or Without Cleft Palate 6
Gastric Cancer Familial Diffuse and Cleft Lip with or Without Cleft Palate 75
E-Cadherin-Associated Hereditary Gastric Cancer 25
Gastric Cancer Risk After H. Pylori Infection 57
Gastric Cancer, Hereditary Diffuse; Hdgc 57
Cancer, Gastric, Hereditary Diffuse 40
Gastric Cancer Familial Diffuse 75
Breast Cancer, Lobular 75
Lbc 75

Characteristics:

Orphanet epidemiological data:

59
hereditary diffuse gastric cancer
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
average age at onset 38 years
onset in teens has been reported
penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers
up to 60% of female mutation carriers develop lobular breast cancer


HPO:

32
gastric cancer, hereditary diffuse:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance The penetrance of hdgc is incomplete. a recent study that included 75 families with germline cdh1 pathogenic variants found that by age 80 years, the cumulative incidence of gastric cancer was 70% (95% ci, 59%-80%) for males and 56% (95% ci, 44%-69%) for females, and the risk of breast cancer for females was 42% (95% ci, 23%-68%) [hansford et al 2015]...

Classifications:



External Ids:

OMIM 57 137215
Orphanet 59 ORPHA26106
UMLS via Orphanet 74 C1708349
ICD10 via Orphanet 34 C16.9
UMLS 73 C1708349

Summaries for Gastric Cancer, Hereditary Diffuse

OMIM : 57 Hereditary diffuse gastric cancer is an autosomal dominant cancer predisposition syndrome. Heterozygous CDH1 mutation carriers have a 70 to 80% lifetime risk of developing diffuse gastric cancer. In addition to gastric cancer, up to 60% of female mutation carriers develop lobular carcinoma of the breast, and some carriers may develop colorectal cancer. Identification of mutation carriers is important, because the characteristic microscopic foci of signet ring cell adenocarcinoma in HDGC usually involves the submucosa and is often not readily detectable by routine upper endoscopy screening (summary by Fitzgerald et al., 2010). HDGC is considered to be a distinct disease entity from the more common sporadic occurrence of gastric cancer (613659), which can be associated with environmental factors, such as Helicobacter pylori infection, high-fat diet, or smoking, and is often associated with somatic mutations in disease tissue. (137215)

MalaCards based summary : Gastric Cancer, Hereditary Diffuse, also known as hereditary diffuse gastric cancer, is related to diffuse gastric cancer and gastric cancer, and has symptoms including dyspepsia An important gene associated with Gastric Cancer, Hereditary Diffuse is CDH1 (Cadherin 1), and among its related pathways/superpathways are PAK Pathway and Pathways in cancer. Affiliated tissues include breast, liver and bone, and related phenotypes are cleft palate and cleft upper lip

Genetics Home Reference : 25 Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach (gastric) cancer. In this form, known as diffuse gastric cancer, there is no solid tumor. Instead cancerous (malignant) cells multiply underneath the stomach lining, making the lining thick and rigid. The invasive nature of this type of cancer makes it highly likely that these cancer cells will spread (metastasize) to other tissues, such as the liver or nearby bones.

NIH Rare Diseases : 53 Hereditary diffuse gastric cancer (HDGC) is an inherited condition that is characterized by an increased risk of developing a specific form of stomach cancer called diffuse gastric cancer. Women with HDGC also have an increased risk for lobular breast cancer. Cancers associated with HDGC generally occur at younger ages than those seen in people who do not have a hereditary predisposition to cancer. HDGC is caused by changes (mutations) in the CDH1 gene and is inherited in an autosomal dominant manner. Management typically involves high-risk cancer screening and/or prophylactic surgeries.   

UniProtKB/Swiss-Prot : 75 Breast cancer, lobular: A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. Hereditary diffuse gastric cancer: A cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body.

Wikipedia : 76 Hereditary diffuse gastric cancer is an inherited genetic syndrome caused by a change in the E-cadherin... more...

GeneReviews: NBK1139

Related Diseases for Gastric Cancer, Hereditary Diffuse

Diseases in the Diffuse Gastric Cancer family:

Gastric Cancer, Hereditary Diffuse

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 diffuse gastric cancer 31.0 CDH1 CTNNA1
2 gastric cancer 29.2 CDH1 CTNNA1 IL1RN KRAS
3 breast cancer 11.8
4 diversion colitis 10.4 CDH1 IL1B
5 gastric diffuse adenocarcinoma 10.4 CDH1 CTNNA1
6 crohn's colitis 10.4 CDH1 IL1B
7 microinvasive gastric cancer 10.4 CDH1 CTNNA1
8 lobular neoplasia 10.4 CDH1 CTNNA1
9 vulvar vestibulitis syndrome 10.3 IL1B IL1RN
10 schnitzler syndrome 10.3 IL1B IL1RN
11 cerebral artery occlusion 10.3 IL1B IL1RN
12 osteosclerotic myeloma 10.3 IL1B IL1RN
13 meningococcemia 10.3 IL1B IL1RN
14 hydrarthrosis 10.3 IL1B IL1RN
15 cinca syndrome 10.3 IL1B IL1RN
16 aseptic meningitis 10.3 IL1B IL1RN
17 joint disorders 10.3 IL1B IL1RN
18 adult-onset still's disease 10.3 IL1B IL1RN
19 root resorption 10.3 IL1B IL1RN
20 aphthous stomatitis 10.3 IL1B IL1RN
21 extrapulmonary tuberculosis 10.3 IL1B IL1RN
22 dengue shock syndrome 10.3 IL1B IL1RN
23 idiopathic neutropenia 10.2 IL1B IL1RN
24 somatoform disorder 10.2 IL1B IL1RN
25 gastric ulcer 10.2 IL1B IL1RN
26 gastroenteritis 10.2 CDH1 IL1B
27 peptic ulcer disease 10.2 IL1B IL1RN
28 bile duct adenocarcinoma 10.2 CDH1 KRAS
29 aggressive periodontitis 10.2 IL1B IL1RN
30 silicosis 10.2 IL1B IL1RN
31 gastrointestinal system benign neoplasm 10.2 CDH1 KRAS
32 atrophic gastritis 10.2 IL1B IL1RN
33 intestinal benign neoplasm 10.2 CDH1 KRAS
34 duodenal ulcer 10.2 IL1B IL1RN
35 ovarian cancer 1 10.2 CDH1 KRAS
36 familial mediterranean fever 10.2 IL1B IL1RN
37 malignant ovarian surface epithelial-stromal neoplasm 10.2 CDH1 KRAS
38 ovary epithelial cancer 10.2 CDH1 KRAS
39 autoinflammation, lipodystrophy, and dermatosis syndrome 10.1 IL1B IL1RN
40 osteomyelitis 10.1 IL1B IL1RN
41 exanthem 10.1 IL1RN KRAS
42 bone inflammation disease 10.1 IL1B IL1RN
43 helicobacter pylori infection 10.1 IL1B IL1RN
44 juvenile rheumatoid arthritis 10.1 IL1B IL1RN
45 colorectal adenocarcinoma 10.1 CDH1 KRAS
46 female reproductive organ cancer 10.0 CDH1 KRAS
47 synovitis 10.0 IL1B IL1RN
48 respiratory system cancer 10.0 CDH1 KRAS
49 malakoplakia 10.0
50 endocrine gland cancer 10.0 CDH1 KRAS

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



Diseases related to Gastric Cancer, Hereditary Diffuse

Symptoms & Phenotypes for Gastric Cancer, Hereditary Diffuse

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft lip (in some patients)
cleft palate (in some patients)

Neoplasia:
gastric cancer, diffuse type, poorly differentiated, high-grade submucosal lesions
signet ring cell adenocarcinoma
breast cancer, lobular
colorectal cancer (in some patients)


Clinical features from OMIM:

137215

Human phenotypes related to Gastric Cancer, Hereditary Diffuse:

32
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 occasional (7.5%) HP:0000175
2 cleft upper lip 32 occasional (7.5%) HP:0000204
3 stomach cancer 32 HP:0012126
4 chronic atrophic gastritis 32 HP:0002582

UMLS symptoms related to Gastric Cancer, Hereditary Diffuse:


dyspepsia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.44 KRAS
2 Decreased viability GR00106-A-0 9.44 KRAS
3 Decreased viability GR00221-A-1 9.44 CDH1 KRAS MAP3K6
4 Decreased viability GR00221-A-2 9.44 KRAS MAP3K6
5 Decreased viability GR00301-A 9.44 CDH1 KRAS
6 Decreased viability GR00381-A-1 9.44 KRAS
7 Decreased viability GR00402-S-2 9.44 CDH1 KRAS MAP3K6

MGI Mouse Phenotypes related to Gastric Cancer, Hereditary Diffuse:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 CDH1 CTNNA1 IL1B IL1RN KRAS
2 integument MP:0010771 9.43 CDH1 CTNNA1 IL1B IL1RN KRAS MAP3K6
3 neoplasm MP:0002006 9.02 CDH1 CTNNA1 IL1B KRAS MAP3K6

Drugs & Therapeutics for Gastric Cancer, Hereditary Diffuse

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
2 Early Onset and Familial Gastric Cancer Registry Active, not recruiting NCT00582257

Search NIH Clinical Center for Gastric Cancer, Hereditary Diffuse

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Gastric Cancer, Hereditary Diffuse cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Gastric Cancer, Hereditary Diffuse:
Tumor infiltrating lymphocytes (TILs) for solid tumors
Embryonic/Adult Cultured Cells Related to Gastric Cancer, Hereditary Diffuse:
Tumor infiltrating lymphocytes PMIDs: 24329789 19342963 23904171 21498393 22996367 19304471 22555974 15800326 23650429 21325070 24218514 8170938 12242449

Genetic Tests for Gastric Cancer, Hereditary Diffuse

Genetic tests related to Gastric Cancer, Hereditary Diffuse:

# Genetic test Affiliating Genes
1 Hereditary Diffuse Gastric Cancer 29 CDH1 IL1B IL1RN KRAS

Anatomical Context for Gastric Cancer, Hereditary Diffuse

MalaCards organs/tissues related to Gastric Cancer, Hereditary Diffuse:

41
Breast, Liver, Bone, Lymph Node, Small Intestine, Testes

Publications for Gastric Cancer, Hereditary Diffuse

Articles related to Gastric Cancer, Hereditary Diffuse:

(show top 50) (show all 123)
# 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
Hereditary diffuse gastric cancer: how to look for and how to manage it. ( 29869323 )
2018
3
Endoscopic screening for hereditary diffuse gastric cancer: oneA size does not fit all. ( 29406927 )
2018
4
Outcomes after prophylactic gastrectomy for hereditary diffuse gastric cancer. ( 29341148 )
2018
5
Merging perspectives: genotype-directed molecular therapy for hereditary diffuse gastric cancer (HDGC) and E-cadherin-EGFR crosstalk. ( 29468433 )
2018
6
Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer. ( 29769627 )
2018
7
Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease. ( 29454568 )
2018
8
Hereditary diffuse gastric cancer: One family's story. ( 29376063 )
2018
9
Germline mutations in hereditary diffuse gastric cancer. ( 29545726 )
2018
10
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
11
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. ( 28688938 )
2017
12
Expression of hsa-miR-9 and MYC Copy Number Variation in Hereditary Diffuse Gastric Cancer. ( 28476807 )
2017
13
Hereditary diffuse gastric cancer in two families: A case report. ( 28789394 )
2017
14
Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient. ( 28702897 )
2017
15
A multidisciplinary approach allows identification of a new pathogenic CDH1 germline missense mutation in a hereditary diffuse gastric cancer family. ( 28487081 )
2017
16
Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria. ( 28455161 )
2017
17
Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer. ( 29231860 )
2017
18
Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future. ( 27573781 )
2016
19
The Psychosocial Impact of Undergoing Prophylactic Total Gastrectomy (PTG) to Manage the Risk of Hereditary Diffuse Gastric Cancer (HDGC). ( 27837291 )
2016
20
PanelA testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer. ( 27064202 )
2016
21
Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients. ( 27759617 )
2016
22
Cate's Story: Hereditary Diffuse Gastric Cancer. ( 27441520 )
2016
23
Early diagnosis of hereditary diffuse gastric cancer: (not only) an endoscopic challenge! ( 27995194 )
2016
24
A novel mutation in the CDH1 gene in a Spanish family with hereditary diffuse gastric cancer. ( 27512640 )
2016
25
MicroRNAs in hereditary diffuse gastric cancer. ( 27446532 )
2016
26
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
27
Prophylactic Total Gastrectomy for Hereditary Diffuse Gastric Cancer. ( 28008412 )
2016
28
[Hereditary diffuse gastric cancer]. ( 25875520 )
2015
29
Error in Byline. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. ( 26182313 )
2015
30
Hereditary diffuse gastric cancer: laparoscopic surgical approach associated to rare mutattion of CDH1 gene. ( 26176257 )
2015
31
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1. ( 26072394 )
2015
32
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. ( 25979631 )
2015
33
[Current status of the study on hereditary diffuse gastric cancer]. ( 25809335 )
2015
34
1229: BEYOND HELLP: PERIPARTUM CATASTROPHIC THROMBOEMBOLISM DUE TO HEREDITARY DIFFUSE GASTRIC CANCER. ( 26570890 )
2015
35
Hereditary diffuse gastric cancer: What the clinician should know. ( 26380059 )
2015
36
Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation. ( 26025002 )
2015
37
Recognition of and recent issues in hereditary diffuse gastric cancer. ( 26049741 )
2015
38
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. ( 26182300 )
2015
39
Hereditary diffuse gastric cancer--An overview. ( 26150395 )
2015
40
Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study. ( 24389957 )
2014
41
Genetic screening analysis of patients with hereditary diffuse gastric cancer from northern and northeastern Brazil. ( 25180051 )
2014
42
Hereditary diffuse gastric cancer associated with E-cadherin germline mutation: a case report. ( 25089230 )
2014
43
Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with hereditary diffuse gastric cancer (HDGC) syndrome. ( 24493355 )
2014
44
Prospective cohort study assessing outcomes of patients from families fulfilling criteria for hereditary diffuse gastric cancer undergoing endoscopic surveillance. ( 24472763 )
2014
45
Hereditary diffuse gastric cancer - pathophysiology and clinical management. ( 25439071 )
2014
46
Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC). ( 23443028 )
2013
47
An I+-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer. ( 23208944 )
2013
48
Laparoscopic prophylactic total gastrectomy with linear stapler side-to-side esophagojejunal anastomosis for hereditary diffuse gastric cancer syndrome in 2 siblings. ( 23752020 )
2013
49
E-cadherin alterations in hereditary disorders with emphasis on hereditary diffuse gastric cancer. ( 23481202 )
2013
50
Searching for E-cadherin gene mutations in early onset diffuse gastric cancer and hereditary diffuse gastric cancer in Korean patients. ( 23264079 )
2013

Variations for Gastric Cancer, Hereditary Diffuse

UniProtKB/Swiss-Prot genetic disease variations for Gastric Cancer, Hereditary Diffuse:

75
# Symbol AA change Variation ID SNP ID
1 CDH1 p.Asp244Gly VAR_008712
2 CDH1 p.Val487Ala VAR_008713
3 CDH1 p.Val832Met VAR_023358 rs35572355

ClinVar genetic disease variations for Gastric Cancer, Hereditary Diffuse:

6
(show top 50) (show all 1425)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH1 CDH1, 1-BP INS, 2382C insertion Pathogenic
2 CDH1 NM_004360.4(CDH1): c.2095C> T (p.Gln699Ter) single nucleotide variant Pathogenic rs121964874 GRCh37 Chromosome 16, 68857460: 68857460
3 CDH1 NM_004360.4(CDH1): c.2095C> T (p.Gln699Ter) single nucleotide variant Pathogenic rs121964874 GRCh38 Chromosome 16, 68823557: 68823557
4 CDH1 CDH1, IVS1AS, A-G, -2 single nucleotide variant Pathogenic
5 CDH1 NM_004360.4(CDH1): c.59G> A (p.Trp20Ter) single nucleotide variant Pathogenic rs121964875 GRCh37 Chromosome 16, 68772210: 68772210
6 CDH1 NM_004360.4(CDH1): c.59G> A (p.Trp20Ter) single nucleotide variant Pathogenic rs121964875 GRCh38 Chromosome 16, 68738307: 68738307
7 CDH1 NM_004360.4(CDH1): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs121964876 GRCh37 Chromosome 16, 68772221: 68772221
8 CDH1 NM_004360.4(CDH1): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs121964876 GRCh38 Chromosome 16, 68738318: 68738318
9 CDH1 NM_004360.4(CDH1): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs121964877 GRCh37 Chromosome 16, 68855984: 68855984
10 CDH1 NM_004360.4(CDH1): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs121964877 GRCh38 Chromosome 16, 68822081: 68822081
11 CDH1 CDH1, 1-BP INS, 1711G insertion Pathogenic
12 CDH1 CDH1, 1-BP INS, 1588C insertion Pathogenic
13 CDH1 NM_004360.4(CDH1): c.1901C> T (p.Ala634Val) single nucleotide variant Likely pathogenic rs121964878 GRCh37 Chromosome 16, 68856093: 68856093
14 CDH1 NM_004360.4(CDH1): c.1901C> T (p.Ala634Val) single nucleotide variant Likely pathogenic rs121964878 GRCh38 Chromosome 16, 68822190: 68822190
15 CDH1 CDH1, IVS4DS, T-A, +2 single nucleotide variant Pathogenic
16 CDH1 CDH1, 1137G-A single nucleotide variant Pathogenic
17 CDH1 nsv513771 deletion Pathogenic
18 CDH1 CDH1, 828-BP DEL AND 3-BP INS, EX16 indel Pathogenic
19 CDH1 NM_004360.4(CDH1): c.1008G> T (p.Glu336Asp) single nucleotide variant Pathogenic rs267606712 GRCh37 Chromosome 16, 68845762: 68845762
20 CDH1 NM_004360.4(CDH1): c.1008G> T (p.Glu336Asp) single nucleotide variant Pathogenic rs267606712 GRCh38 Chromosome 16, 68811859: 68811859
21 CDH1 NM_004360.4(CDH1): c.1565+1G> A single nucleotide variant Pathogenic rs587780113 GRCh38 Chromosome 16, 68815760: 68815760
22 CDH1 NM_004360.4(CDH1): c.1565+1G> A single nucleotide variant Pathogenic rs587780113 GRCh37 Chromosome 16, 68849663: 68849663
23 CDH1 NM_004360.4(CDH1): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs587780784 GRCh38 Chromosome 16, 68811854: 68811854
24 CDH1 NM_004360.4(CDH1): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs587780784 GRCh37 Chromosome 16, 68845757: 68845757
25 CDH1 NM_004360.4(CDH1): c.2287G> T (p.Glu763Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587780787 GRCh38 Chromosome 16, 68828296: 68828296
26 CDH1 NM_004360.4(CDH1): c.2287G> T (p.Glu763Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587780787 GRCh37 Chromosome 16, 68862199: 68862199
27 CDH1 NM_004360.4(CDH1): c.2064_2065delTG (p.Cys688Terfs) deletion Pathogenic rs587781276 GRCh37 Chromosome 16, 68857429: 68857430
28 CDH1 NM_004360.4(CDH1): c.2064_2065delTG (p.Cys688Terfs) deletion Pathogenic rs587781276 GRCh38 Chromosome 16, 68823526: 68823527
29 CDH1 NM_004360.4(CDH1): c.1565+1G> T single nucleotide variant Pathogenic rs587780113 GRCh37 Chromosome 16, 68849663: 68849663
30 CDH1 NM_004360.4(CDH1): c.1565+1G> T single nucleotide variant Pathogenic rs587780113 GRCh38 Chromosome 16, 68815760: 68815760
31 CDH1 NM_004360.4(CDH1): c.1023T> G (p.Tyr341Ter) single nucleotide variant Pathogenic rs587776398 GRCh38 Chromosome 16, 68812149: 68812149
32 CDH1 NM_004360.4(CDH1): c.1023T> G (p.Tyr341Ter) single nucleotide variant Pathogenic rs587776398 GRCh37 Chromosome 16, 68846052: 68846052
33 CDH1 NM_004360.4(CDH1): c.470T> C (p.Val157Ala) single nucleotide variant Uncertain significance rs587783046 GRCh38 Chromosome 16, 68808506: 68808506
34 CDH1 NM_004360.4(CDH1): c.470T> C (p.Val157Ala) single nucleotide variant Uncertain significance rs587783046 GRCh37 Chromosome 16, 68842409: 68842409
35 CDH1 NM_004360.4(CDH1): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs587783047 GRCh38 Chromosome 16, 68801693: 68801693
36 CDH1 NM_004360.4(CDH1): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs587783047 GRCh37 Chromosome 16, 68835596: 68835596
37 CDH1 NM_004360.4(CDH1): c.2398delC (p.Arg800Alafs) deletion Pathogenic rs587783048 GRCh38 Chromosome 16, 68829756: 68829756
38 CDH1 NM_004360.4(CDH1): c.2398delC (p.Arg800Alafs) deletion Pathogenic rs587783048 GRCh37 Chromosome 16, 68863659: 68863659
39 CDH1 NM_004360.4(CDH1): c.1454T> G (p.Ile485Ser) single nucleotide variant Uncertain significance rs587783049 GRCh38 Chromosome 16, 68815648: 68815648
40 CDH1 NM_004360.4(CDH1): c.1454T> G (p.Ile485Ser) single nucleotide variant Uncertain significance rs587783049 GRCh37 Chromosome 16, 68849551: 68849551
41 CDH1 NM_004360.4(CDH1): c.1137G> A (p.Thr379=) single nucleotide variant Pathogenic/Likely pathogenic rs587783050 GRCh38 Chromosome 16, 68812263: 68812263
42 CDH1 NM_004360.4(CDH1): c.1137G> A (p.Thr379=) single nucleotide variant Pathogenic/Likely pathogenic rs587783050 GRCh37 Chromosome 16, 68846166: 68846166
43 CDH1 NM_004360.4(CDH1): c.33G> C (p.Leu11=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881654 GRCh38 Chromosome 16, 68737448: 68737448
44 CDH1 NM_004360.4(CDH1): c.33G> C (p.Leu11=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881654 GRCh37 Chromosome 16, 68771351: 68771351
45 CDH1 NM_004360.4(CDH1): c.48+15_48+16delCT deletion Benign/Likely benign rs730881655 GRCh38 Chromosome 16, 68737478: 68737479
46 CDH1 NM_004360.4(CDH1): c.48+15_48+16delCT deletion Benign/Likely benign rs730881655 GRCh37 Chromosome 16, 68771381: 68771382
47 CDH1 NM_004360.4(CDH1): c.200C> G (p.Ala67Gly) single nucleotide variant Uncertain significance rs730881660 GRCh38 Chromosome 16, 68801706: 68801706
48 CDH1 NM_004360.4(CDH1): c.200C> G (p.Ala67Gly) single nucleotide variant Uncertain significance rs730881660 GRCh37 Chromosome 16, 68835609: 68835609
49 CDH1 NM_004360.4(CDH1): c.268C> T (p.Arg90Trp) single nucleotide variant Uncertain significance rs730881661 GRCh38 Chromosome 16, 68801774: 68801774
50 CDH1 NM_004360.4(CDH1): c.268C> T (p.Arg90Trp) single nucleotide variant Uncertain significance rs730881661 GRCh37 Chromosome 16, 68835677: 68835677

Cosmic variations for Gastric Cancer, Hereditary Diffuse:

9
(show top 50) (show all 4889)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM5575790 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.1159G>A p.A387T 18:25226759-25226759 9
2 COSM5576102 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.443G>A p.C148Y 18:25227475-25227475 9
3 COSM5576231 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.3434T>G p.V1145G 18:25224484-25224484 9
4 COSM5575704 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.2285G>A p.R762H 18:25225633-25225633 9
5 COSM5576098 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.1136G>A p.R379Q 12:6669044-6669044 9
6 COSM3732832 ZNF341 stomach,NS,carcinoma,adenocarcinoma c.2512G>A p.A838T 20:33791485-33791485 9
7 COSM6964818 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.5929G>C p.G1977R 16:72796753-72796753 9
8 COSM6953000 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.4553G>T p.G1518V 16:72798129-72798129 9
9 COSM6965918 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.795C>A p.D265E 16:72959351-72959351 9
10 COSM6826469 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1858C>T p.H620Y 16:72958288-72958288 9
11 COSM6941990 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1081G>A p.G361R 16:72959065-72959065 9
12 COSM6986594 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.8198G>T p.R2733L 16:72794484-72794484 9
13 COSM6934198 YES1 stomach,NS,carcinoma,adenocarcinoma c.350G>A p.R117K 18:751726-751726 9
14 COSM6944960 YAP1 stomach,NS,carcinoma,adenocarcinoma c.356C>G p.T119S 11:102114178-102114178 9
15 COSM6951579 XRCC2 stomach,NS,carcinoma,adenocarcinoma c.140A>G p.H47R 7:152649345-152649345 9
16 COSM5576197 XPO1 stomach,NS,carcinoma,adenocarcinoma c.479G>A p.S160N 2:61499824-61499824 9
17 COSM185632 WT1 stomach,NS,carcinoma,adenocarcinoma c.869C>T p.T290M 11:32399973-32399973 9
18 COSM926359 WT1 stomach,NS,carcinoma,adenocarcinoma c.1298G>A p.R433H 11:32389110-32389110 9
19 COSM6906958 WT1 stomach,NS,carcinoma,adenocarcinoma c.122C>T p.A41V 11:32435020-32435020 9
20 COSM20570 WEE2 stomach,NS,carcinoma,adenocarcinoma c.996C>G p.N332K 7:141723249-141723249 9
21 COSM3732971 USH2A stomach,NS,carcinoma,adenocarcinoma c.8488A>T p.I2830F 1:215878834-215878834 9
22 COSM3732707 USH2A stomach,NS,carcinoma,adenocarcinoma c.140A>T p.K47M 1:216422197-216422197 9
23 COSM3732771 USH2A stomach,NS,carcinoma,adenocarcinoma c.11815G>A p.E3939K 1:215728281-215728281 9
24 COSM3732767 USH2A stomach,NS,carcinoma,adenocarcinoma c.11734G>A p.E3912K 1:215728362-215728362 9
25 COSM3732855 USH2A stomach,NS,carcinoma,adenocarcinoma c.11927C>T p.T3976M 1:215728169-215728169 9
26 COSM1094394 UBR5 stomach,NS,carcinoma,adenocarcinoma c.5561G>A p.R1854H 8:102285262-102285262 9
27 COSM5575712 UBR5 stomach,NS,carcinoma,adenocarcinoma c.5261G>A p.R1754Q 8:102285736-102285736 9
28 COSM6928622 U2AF1 stomach,NS,carcinoma,adenocarcinoma c.68A>G p.K23R 21:43104379-43104379 9
29 COSM3793896 TSHR stomach,NS,carcinoma,adenocarcinoma c.909G>C p.E303D 14:81142967-81142967 9
30 COSM6949448 TSHR stomach,NS,carcinoma,adenocarcinoma c.256G>A p.D86N 14:81068267-81068267 9
31 COSM6505728 TSC2 stomach,NS,carcinoma,adenocarcinoma c.5377C>T p.R1793W 16:2088563-2088563 9
32 COSM5576247 TSC2 stomach,NS,carcinoma,adenocarcinoma c.2803G>T p.A935S 16:2076551-2076551 9
33 COSM6922577 TSC2 stomach,NS,carcinoma,adenocarcinoma c.3820T>C p.S1274P 16:2082441-2082441 9
34 COSM5575753 TSC2 stomach,NS,carcinoma,adenocarcinoma c.2357G>A p.R786H 16:2074201-2074201 9
35 COSM6921200 TSC2 stomach,NS,carcinoma,adenocarcinoma c.445A>G p.N149D 16:2054404-2054404 9
36 COSM6915776 TSC1 stomach,NS,carcinoma,adenocarcinoma c.2066G>A p.R689H 9:132903793-132903793 9
37 COSM6963024 TSC1 stomach,NS,carcinoma,adenocarcinoma c.2161C>T p.R721C 9:132903698-132903698 9
38 COSM5576069 TSC1 stomach,NS,carcinoma,adenocarcinoma c.2143C>T p.R715W 9:132903716-132903716 9
39 COSM6924108 TSC1 stomach,NS,carcinoma,adenocarcinoma c.3185G>A p.R1062Q 9:132896545-132896545 9
40 COSM6952020 TSC1 stomach,NS,carcinoma,adenocarcinoma c.941C>T p.T314M 9:132911541-132911541 9
41 COSM6915052 TSC1 stomach,NS,carcinoma,adenocarcinoma c.1906G>A p.E636K 9:132905672-132905672 9
42 COSM5575742 TRRAP stomach,NS,carcinoma,adenocarcinoma c.622G>A p.E208K 7:98897855-98897855 9
43 COSM20551 TRRAP stomach,NS,carcinoma,adenocarcinoma c.5117G>A p.R1706H 7:98950120-98950120 9
44 COSM2866680 TRRAP stomach,NS,carcinoma,adenocarcinoma c.5956C>T p.R1986W 7:98956239-98956239 9
45 COSM5575878 TRRAP stomach,NS,carcinoma,adenocarcinoma c.10447G>A p.A3483T 7:99005171-99005171 9
46 COSM20550 TRRAP stomach,NS,carcinoma,adenocarcinoma c.477A>G p.K159K 7:98895790-98895790 9
47 COSM5576201 TRRAP stomach,NS,carcinoma,adenocarcinoma c.2075A>G p.Y692C 7:98912089-98912089 9
48 COSM5576203 TRRAP stomach,NS,carcinoma,adenocarcinoma c.8165C>T p.P2722L 7:98976763-98976763 9
49 COSM20561 TRPM7 stomach,NS,carcinoma,adenocarcinoma c.2488A>G p.M830V 15:50609673-50609673 9
50 COSM1542406 TRIO stomach,NS,carcinoma,adenocarcinoma c.6611A>G p.K2204R 5:14482727-14482727 9

Copy number variations for Gastric Cancer, Hereditary Diffuse from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 133641 19 67328695 67426945 Deletion CDH1 hereditary diffuse gastric cancer

Expression for Gastric Cancer, Hereditary Diffuse

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

Pathways for Gastric Cancer, Hereditary Diffuse

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 CDH1 CTNNA1 IL1B KRAS
2 12.5 CDH1 CTNNA1 KRAS
3
Show member pathways
12.46 IL1B KRAS MAP3K6
4
Show member pathways
12.4 CDH1 CTNNA1 KRAS
5 12.39 IL1B KRAS MAP3K6
6
Show member pathways
12.34 CDH1 CTNNA1 KRAS
7
Show member pathways
12.27 IL1B KRAS MAP3K6
8
Show member pathways
11.95 IL1B IL1RN KRAS
9
Show member pathways
11.71 CDH1 IL1B KRAS
10
Show member pathways
11.56 CDH1 CTNNA1 MAP3K6
11 11.46 CDH1 CTNNA1
12 11.45 CDH1 IL1B
13 11.44 CDH1 KRAS
14 11.42 CDH1 CTNNA1
15 11.17 IL1B IL1RN
16 11.08 CDH1 CTNNA1
17 11.01 CDH1 CTNNA1
18 10.97 CDH1 CTNNA1
19 10.78 CDH1 CTNNA1
20 10.55 CDH1 CTNNA1
21 10.23 CDH1 CTNNA1
22 9.74 CDH1 CTNNA1

GO Terms for Gastric Cancer, Hereditary Diffuse

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

# Name GO ID Score Top Affiliating Genes
1 catenin complex GO:0016342 8.96 CDH1 CTNNA1
2 flotillin complex GO:0016600 8.62 CDH1 CTNNA1

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

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.5 IL1B IL1RN KRAS
2 response to glucocorticoid GO:0051384 9.37 IL1RN KRAS
3 adherens junction organization GO:0034332 9.26 CDH1 CTNNA1
4 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.16 CTNNA1 IL1B
5 fever generation GO:0001660 8.96 IL1B IL1RN
6 cellular response to indole-3-methanol GO:0071681 8.62 CDH1 CTNNA1

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

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 9.16 CDH1 CTNNA1
2 interleukin-1 receptor binding GO:0005149 8.96 IL1B IL1RN
3 gamma-catenin binding GO:0045295 8.62 CDH1 CTNNA1

Sources for Gastric Cancer, Hereditary Diffuse

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....