HDGC
MCID: GST103
MIFTS: 58

Gastric Cancer, Hereditary Diffuse (HDGC)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Rare 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 68)
# Related Disease Score Top Affiliating Genes
1 diffuse gastric cancer 30.8 CTNNA1 CDH1
2 gastric cancer 30.2 KRAS IL1RN IL1B CTNNA1 CDH1
3 intrahepatic cholangiocarcinoma 30.0 KRAS CDH1
4 cholangiocarcinoma 29.9 KRAS CTNNA1 CDH1
5 breast cancer 11.9
6 familial stomach cancer 11.3
7 cleft lip 10.1
8 gastric diffuse adenocarcinoma 10.1 CTNNA1 CDH1
9 diversion colitis 10.1 IL1B CDH1
10 crohn's colitis 10.1 IL1B CDH1
11 lobular neoplasia 10.1 CTNNA1 CDH1
12 vulvar vestibulitis syndrome 10.1 IL1RN IL1B
13 schnitzler syndrome 10.1 IL1RN IL1B
14 osteosclerotic myeloma 10.1 IL1RN IL1B
15 meningococcemia 10.1 IL1RN IL1B
16 hydrarthrosis 10.1 IL1RN IL1B
17 in situ carcinoma 10.1
18 aseptic meningitis 10.1 IL1RN IL1B
19 cinca syndrome 10.1 IL1RN IL1B
20 joint disorders 10.1 IL1RN IL1B
21 root resorption 10.1 IL1RN IL1B
22 adult-onset still's disease 10.1 IL1RN IL1B
23 aphthous stomatitis 10.1 IL1RN IL1B
24 dengue shock syndrome 10.1 IL1RN IL1B
25 idiopathic neutropenia 10.1 IL1RN IL1B
26 somatoform disorder 10.1 IL1RN IL1B
27 gastric ulcer 10.1 IL1RN IL1B
28 peptic ulcer disease 10.1 IL1RN IL1B
29 bile duct adenocarcinoma 10.1 KRAS CDH1
30 bronchiolo-alveolar adenocarcinoma 10.1 KRAS CDH1
31 pericarditis 10.1 IL1RN IL1B
32 silicosis 10.1 IL1RN IL1B
33 cleft lip/palate 10.1
34 atrophic gastritis 10.0 IL1RN IL1B
35 gastritis 10.0 IL1RN IL1B
36 ovary epithelial cancer 10.0 KRAS CDH1
37 aggressive periodontitis 10.0 IL1RN IL1B
38 bladder cancer 10.0
39 malakoplakia 10.0
40 malignant ovarian surface epithelial-stromal neoplasm 10.0 KRAS CDH1
41 duodenal ulcer 10.0 IL1RN IL1B
42 ovarian cancer 1 10.0 KRAS CDH1
43 chorioamnionitis 10.0 IL1RN IL1B
44 exanthem 10.0 KRAS IL1RN
45 familial mediterranean fever 10.0 IL1RN IL1B
46 cataract 31, multiple types 10.0 KRAS IL1B
47 osteomyelitis 10.0 IL1RN IL1B
48 stomach disease 10.0 IL1B CDH1
49 bone inflammation disease 10.0 IL1RN IL1B
50 colonic disease 10.0 KRAS CDH1

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 Confocal Endoscopic Microscopy for Detection of Early Stage Gastric Cancer in Subjects With Hereditary Diffuse Gastric Cancer Syndrome Recruiting NCT03648879 Phase 2
2 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
3 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, Colon

Publications for Gastric Cancer, Hereditary Diffuse

Articles related to Gastric Cancer, Hereditary Diffuse:

(show top 50) (show all 131)
# 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
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
11
Therapeutic and prophylactic gastrectomy in a family with hereditary diffuse gastric cancer secondary to a CDH1 mutation: a case series. ( 30007404 )
2018
12
Pathological features of total gastrectomy specimens from asymptomatic hereditary diffuse gastric cancer patients and implications for clinical management. ( 30014492 )
2018
13
Early genetic counseling and detection of CDH1 mutation in asymptomatic carriers improves survival in hereditary diffuse gastric cancer. ( 30145018 )
2018
14
Is prophylactic gastrectomy indicated for healthy carriers of CDH1 gene mutations associated with hereditary diffuse gastric cancer? ( 30466290 )
2018
15
Genetic analysis of a case of Helicobacter pylori-uninfected intramucosal gastric cancer in a family with hereditary diffuse gastric cancer. ( 30542785 )
2018
16
Early Hereditary Diffuse Gastric Cancer (eHDGC) is Characterized by Subtle Genomic Instability and Active DNA Damage Response. ( 30547291 )
2018
17
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
18
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. ( 28688938 )
2017
19
Expression of hsa-miR-9 and MYC Copy Number Variation in Hereditary Diffuse Gastric Cancer. ( 28476807 )
2017
20
Hereditary diffuse gastric cancer in two families: A case report. ( 28789394 )
2017
21
Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient. ( 28702897 )
2017
22
A multidisciplinary approach allows identification of a new pathogenic CDH1 germline missense mutation in a hereditary diffuse gastric cancer family. ( 28487081 )
2017
23
Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria. ( 28455161 )
2017
24
Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer. ( 29231860 )
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
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
34
Prophylactic Total Gastrectomy for Hereditary Diffuse Gastric Cancer. ( 28008412 )
2016
35
Erratum to: Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future. ( 27778307 )
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
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1. ( 26072394 )
2015
40
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. ( 25979631 )
2015
41
[Current status of the study on hereditary diffuse gastric cancer]. ( 25809335 )
2015
42
1229: BEYOND HELLP: PERIPARTUM CATASTROPHIC THROMBOEMBOLISM DUE TO HEREDITARY DIFFUSE GASTRIC CANCER. ( 26570890 )
2015
43
Hereditary diffuse gastric cancer: What the clinician should know. ( 26380059 )
2015
44
Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation. ( 26025002 )
2015
45
Recognition of and recent issues in hereditary diffuse gastric cancer. ( 26049741 )
2015
46
Hereditary diffuse gastric cancer--An overview. ( 26150395 )
2015
47
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. ( 26182300 )
2015
48
Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study. ( 24389957 )
2014
49
Genetic screening analysis of patients with hereditary diffuse gastric cancer from northern and northeastern Brazil. ( 25180051 )
2014
50
Hereditary diffuse gastric cancer associated with E-cadherin germline mutation: a case report. ( 25089230 )
2014

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 rs106479423
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 1988)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH1 NM_004360.4(CDH1): c.2131C> G (p.Leu711Val) single nucleotide variant Uncertain significance rs121964871 GRCh37 Chromosome 16, 68857496: 68857496
2 CDH1 NM_004360.4(CDH1): c.2131C> G (p.Leu711Val) single nucleotide variant Uncertain significance rs121964871 GRCh38 Chromosome 16, 68823593: 68823593
3 CDH1 NM_004360.4(CDH1): c.1849G> A (p.Ala617Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs33935154 GRCh37 Chromosome 16, 68856041: 68856041
4 CDH1 NM_004360.4(CDH1): c.1849G> A (p.Ala617Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs33935154 GRCh38 Chromosome 16, 68822138: 68822138
5 CDH1 NM_004360.4(CDH1): c.2512A> G (p.Ser838Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs121964872 GRCh37 Chromosome 16, 68867265: 68867265
6 CDH1 NM_004360.4(CDH1): c.2512A> G (p.Ser838Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs121964872 GRCh38 Chromosome 16, 68833362: 68833362
7 CDH1 NM_004360.4(CDH1): c.2386dup (p.Arg796Profs) duplication Pathogenic GRCh37 Chromosome 16, 68863647: 68863647
8 CDH1 NM_004360.4(CDH1): c.2386dup (p.Arg796Profs) duplication Pathogenic GRCh38 Chromosome 16, 68829744: 68829744
9 CDH1 NM_004360.4(CDH1): c.2095C> T (p.Gln699Ter) single nucleotide variant Pathogenic rs121964874 GRCh37 Chromosome 16, 68857460: 68857460
10 CDH1 NM_004360.4(CDH1): c.2095C> T (p.Gln699Ter) single nucleotide variant Pathogenic rs121964874 GRCh38 Chromosome 16, 68823557: 68823557
11 CDH1 CDH1, IVS1AS, A-G, -2 single nucleotide variant Pathogenic
12 CDH1 NM_004360.4(CDH1): c.59G> A (p.Trp20Ter) single nucleotide variant Pathogenic rs121964875 GRCh37 Chromosome 16, 68772210: 68772210
13 CDH1 NM_004360.4(CDH1): c.59G> A (p.Trp20Ter) single nucleotide variant Pathogenic rs121964875 GRCh38 Chromosome 16, 68738307: 68738307
14 CDH1 NM_004360.4(CDH1): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs121964876 GRCh37 Chromosome 16, 68772221: 68772221
15 CDH1 NM_004360.4(CDH1): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs121964876 GRCh38 Chromosome 16, 68738318: 68738318
16 CDH1 NM_004360.4(CDH1): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs121964877 GRCh37 Chromosome 16, 68855984: 68855984
17 CDH1 NM_004360.4(CDH1): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs121964877 GRCh38 Chromosome 16, 68822081: 68822081
18 CDH1 CDH1, 1-BP INS, 1711G insertion Pathogenic
19 CDH1 CDH1, 1-BP INS, 1588C insertion Pathogenic
20 CDH1 NM_004360.4(CDH1): c.1901C> T (p.Ala634Val) single nucleotide variant Likely pathogenic rs121964878 GRCh37 Chromosome 16, 68856093: 68856093
21 CDH1 NM_004360.4(CDH1): c.1901C> T (p.Ala634Val) single nucleotide variant Likely pathogenic rs121964878 GRCh38 Chromosome 16, 68822190: 68822190
22 CDH1 NM_004360.4(CDH1): c.1018A> G (p.Thr340Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs116093741 GRCh37 Chromosome 16, 68846047: 68846047
23 CDH1 NM_004360.4(CDH1): c.1018A> G (p.Thr340Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs116093741 GRCh38 Chromosome 16, 68812144: 68812144
24 CDH1 NM_004360.4(CDH1): c.2494G> A (p.Val832Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35572355 GRCh37 Chromosome 16, 68867247: 68867247
25 CDH1 NM_004360.4(CDH1): c.2494G> A (p.Val832Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35572355 GRCh38 Chromosome 16, 68833344: 68833344
26 CDH1 CDH1, IVS4DS, T-A, +2 single nucleotide variant Pathogenic
27 CDH1 CDH1, 1137G-A single nucleotide variant Pathogenic
28 CDH1 nsv513771 deletion Pathogenic
29 CDH1 CDH1, 828-BP DEL AND 3-BP INS, EX16 indel Pathogenic
30 CDH1 NM_004360.4(CDH1): c.1008G> T (p.Glu336Asp) single nucleotide variant Pathogenic rs267606712 GRCh37 Chromosome 16, 68845762: 68845762
31 CDH1 NM_004360.4(CDH1): c.1008G> T (p.Glu336Asp) single nucleotide variant Pathogenic rs267606712 GRCh38 Chromosome 16, 68811859: 68811859
32 CDH1 NM_004360.4(CDH1): c.1774G> A (p.Ala592Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35187787 GRCh37 Chromosome 16, 68855966: 68855966
33 CDH1 NM_004360.4(CDH1): c.1774G> A (p.Ala592Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35187787 GRCh38 Chromosome 16, 68822063: 68822063
34 CDH1 NM_004360.4(CDH1): c.1789C> T (p.Pro597Ser) single nucleotide variant Uncertain significance rs201625049 GRCh37 Chromosome 16, 68855981: 68855981
35 CDH1 NM_004360.4(CDH1): c.1789C> T (p.Pro597Ser) single nucleotide variant Uncertain significance rs201625049 GRCh38 Chromosome 16, 68822078: 68822078
36 CDH1 NM_004360.4(CDH1): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs201511530 GRCh37 Chromosome 16, 68842735: 68842735
37 CDH1 NM_004360.4(CDH1): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs201511530 GRCh38 Chromosome 16, 68808832: 68808832
38 CDH1 NM_004360.4(CDH1): c.892G> A (p.Ala298Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142822590 GRCh37 Chromosome 16, 68845646: 68845646
39 CDH1 NM_004360.4(CDH1): c.892G> A (p.Ala298Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142822590 GRCh38 Chromosome 16, 68811743: 68811743
40 CDH1 NM_004360.4(CDH1): c.1004G> A (p.Arg335Gln) single nucleotide variant Uncertain significance rs373364873 GRCh38 Chromosome 16, 68811855: 68811855
41 CDH1 NM_004360.4(CDH1): c.1004G> A (p.Arg335Gln) single nucleotide variant Uncertain significance rs373364873 GRCh37 Chromosome 16, 68845758: 68845758
42 CDH1 NM_004360.4(CDH1): c.1162G> A (p.Glu388Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs372838203 GRCh38 Chromosome 16, 68813337: 68813337
43 CDH1 NM_004360.4(CDH1): c.1162G> A (p.Glu388Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs372838203 GRCh37 Chromosome 16, 68847240: 68847240
44 CDH1 NM_004360.4(CDH1): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs141864044 GRCh38 Chromosome 16, 68813349: 68813349
45 CDH1 NM_004360.4(CDH1): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs141864044 GRCh37 Chromosome 16, 68847252: 68847252
46 CDH1 NM_004360.4(CDH1): c.1223C> T (p.Ala408Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138135866 GRCh38 Chromosome 16, 68813398: 68813398
47 CDH1 NM_004360.4(CDH1): c.1223C> T (p.Ala408Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138135866 GRCh37 Chromosome 16, 68847301: 68847301
48 CDH1 NM_004360.4(CDH1): c.1273G> A (p.Val425Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs570930882 GRCh38 Chromosome 16, 68813448: 68813448
49 CDH1 NM_004360.4(CDH1): c.1273G> A (p.Val425Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs570930882 GRCh37 Chromosome 16, 68847351: 68847351
50 CDH1 NM_004360.4(CDH1): c.1297G> A (p.Asp433Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199886166 GRCh38 Chromosome 16, 68813472: 68813472

Cosmic variations for Gastric Cancer, Hereditary Diffuse:

9 (show top 50) (show all 4890)
# 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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 CDH1 CTNNA1 IL1B KRAS
2 12.51 CDH1 CTNNA1 KRAS
3 12.41 IL1B KRAS MAP3K6
4
Show member pathways
12.4 CDH1 CTNNA1 KRAS
5
Show member pathways
12.34 CDH1 CTNNA1 KRAS
6
Show member pathways
12.32 IL1B KRAS MAP3K6
7
Show member pathways
12.06 CDH1 CTNNA1 KRAS
8
Show member pathways
12 IL1B IL1RN KRAS
9 11.83 CDH1 CTNNA1 MAP3K6
10
Show member pathways
11.7 CDH1 IL1B KRAS
11
Show member pathways
11.56 CDH1 CTNNA1 MAP3K6
12 11.48 CDH1 CTNNA1
13 11.47 CDH1 IL1B
14 11.46 CDH1 KRAS
15 11.44 CDH1 CTNNA1
16 11.43 IL1B IL1RN
17 11.18 IL1B IL1RN
18 11.12 CDH1 CTNNA1
19 11.03 CDH1 CTNNA1
20 11.01 CDH1 CTNNA1
21 10.84 CDH1 CTNNA1
22 10.55 CDH1 CTNNA1
23 10.23 CDH1 CTNNA1
24 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:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.58 CDH1 IL1B IL1RN
2 neutrophil chemotaxis GO:0030593 9.54 IL1B IL1RN
3 positive regulation of JNK cascade GO:0046330 9.52 IL1B IL1RN
4 memory GO:0007613 9.51 IL1B IL1RN
5 cytokine-mediated signaling pathway GO:0019221 9.5 IL1B IL1RN KRAS
6 positive regulation of interleukin-6 production GO:0032755 9.49 IL1B IL1RN
7 interleukin-1-mediated signaling pathway GO:0070498 9.48 IL1B IL1RN
8 adherens junction organization GO:0034332 9.46 CDH1 CTNNA1
9 positive regulation of JUN kinase activity GO:0043507 9.43 IL1B IL1RN
10 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.37 CTNNA1 IL1B
11 negative regulation of glutamate secretion GO:0014050 9.26 IL1B IL1RN
12 cellular response to indole-3-methanol GO:0071681 9.16 CDH1 CTNNA1
13 response to glucocorticoid GO:0051384 9.13 IL1B IL1RN KRAS
14 chronic inflammatory response to antigenic stimulus GO:0002439 8.62 IL1B IL1RN

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
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