MCID: GST063
MIFTS: 53

Gastric Cancer Risk After H. Pylori Infection

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

Aliases & Classifications for Gastric Cancer Risk After H. Pylori Infection

MalaCards integrated aliases for Gastric Cancer Risk After H. Pylori Infection:

Name: Gastric Cancer Risk After H. Pylori Infection 54
Hereditary Diffuse Gastric Cancer 23 50 24 25 56 71 29 69
Hdgc 23 50 24 25 56 71
Hereditary Diffuse Gastric Adenocarcinoma 50 25 56
Familial Diffuse Gastric Cancer 50 25 56
Fdgc 50 25 56
Gastric Cancer, Familial Diffuse, with or Without Cleft Lip and/or Palate 54 13
Hereditary Diffuse Cancer of Stomach 50 56
Familial Diffuse Cancer of Stomach 50 56
Gastric Cancer Familial Diffuse and Cleft Lip with or Without Cleft Palate 71
E-Cadherin-Associated Hereditary Gastric Cancer 25
Hereditary Diffuse Gastric Carcinoma 24
Gastric Cancer, Hereditary Diffuse 50
Gastric Cancer, Familial Diffuse 50
Gastric Cancer Familial Diffuse 71
Gastric Cancer, Somatic 54
Breast Cancer, Lobular 71
Lbc 71

Characteristics:

Orphanet epidemiological data:

56
hereditary diffuse gastric cancer
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

54
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 risk after h. pylori infection:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance The penetrance of hdgc is incomplete. penetrance analysis has changed several times over the last 13 years. pharoah et al [2001] estimated the cumulative risk for gastric cancer by age 80 years at 67% for men (95% confidence interval [ci], 39-99 years) and 83% for women (95% ci, 58-99 years). females heterozygous for a cdh1 pathogenic variant had an additional cumulative risk for breast cancer of 39% (95% ci, 12-84 years). the combined risk for gastric and breast cancer in women was 90% by age 80 years...

Classifications:



External Ids:

OMIM 54 137215
Orphanet 56 ORPHA26106
UMLS via Orphanet 70 C1708349
ICD10 via Orphanet 34 C16.9

Summaries for Gastric Cancer Risk After H. Pylori Infection

OMIM : 54
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 Risk After H. Pylori Infection, also known as hereditary diffuse gastric cancer, is related to gastric cancer, somatic and breast cancer, and has symptoms including cleft palate, chronic atrophic gastritis and cleft upper lip. An important gene associated with Gastric Cancer Risk After H. Pylori Infection is CDH1 (Cadherin 1), and among its related pathways/superpathways are PAK Pathway and Development HGF signaling pathway. The drugs Amoxicillin and Clarithromycin have been mentioned in the context of this disorder. Affiliated tissues include breast, liver and bone, and related phenotypes are Decreased viability and cardiovascular system

NIH Rare Diseases : 50 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.    last updated: 3/17/2015

UniProtKB/Swiss-Prot : 71 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.

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.

GeneReviews: NBK1139

Related Diseases for Gastric Cancer Risk After H. Pylori Infection

Diseases related to Gastric Cancer Risk After H. Pylori Infection via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
id Related Disease Score Top Affiliating Genes
1 gastric cancer, somatic 32.9 CDH1 IL1RN KRAS
2 breast cancer 11.7
3 diffuse gastric cancer 11.5
4 stomach cancer 11.0
5 ileitis 10.4 CDH1 IL1B
6 childhood teratoma of the ovary 10.4 CDH1 CTNNA1
7 immunodeficiency 27b, mycobacteriosis, ad 10.4 CDH1 IL1B
8 pyloric antrum cancer 10.4 CDH1 CTNNA1
9 amyotrophic lateral sclerosis type 10 10.4 CDH1 IL1B
10 breast sarcoma 10.4 CDH1 CTNNA1
11 walker dyson syndrome 10.3 IL1B IL1RN
12 milk allergy 10.3 IL1B IL1RN
13 diffuse mesangial sclerosis 10.3 CDH1 CTNNA1
14 indolent myeloma 10.3 IL1B IL1RN
15 mental retardation dysmorphism hypogonadism diabetes 10.3 IL1B IL1RN
16 senile reticular retinal degeneration 10.3 IL1B IL1RN
17 cinca syndrome 10.3 IL1B IL1RN
18 benign neonatal seizures 10.3 IL1B IL1RN
19 keloids 10.3 IL1B IL1RN
20 glossitis 10.3 IL1B IL1RN
21 noma 10.3 IL1B IL1RN
22 askin's tumor 10.3 IL1B IL1RN
23 osmotic diarrhea 10.3 IL1B IL1RN
24 placenta accreta 10.2 IL1B IL1RN
25 peritoneal serous adenocarcinoma 10.2 CDH1 KRAS
26 iida kannari syndrome 10.2 IL1B IL1RN
27 gastrointestinal neuroendocrine tumor 10.2 CDH1 KRAS
28 tibialis tendinitis 10.2 IL1B IL1RN
29 extrahepatic bile duct papillary adenoma 10.2 IL1B IL1RN
30 maxillary neoplasm 10.2 CDH1 KRAS
31 sinusitis 10.2 IL1B IL1RN
32 dental caries 10.2 CDH1 KRAS
33 nasal cavity disease 10.2 CDH1 KRAS
34 autosomal recessive type iv ehlers-danlos syndrome 10.2 IL1B IL1RN
35 plantar fascial fibromatosis 10.2 IL1B IL1RN
36 retinal vascular occlusion 10.2 IL1B IL1RN
37 early congenital syphilis 10.2 IL1RN KRAS
38 pleomorphic lipoma 10.2 IL1B IL1RN
39 pancreatic somatostatinoma 10.2 CDH1 KRAS
40 ragweed sensitivity 10.2 IL1B IL1RN
41 mesenchymal cell neoplasm 10.1 IL1B IL1RN
42 arteritic anterior ischemic optic neuropathy 10.1 CDH1 KRAS
43 trachea squamous cell carcinoma 10.1 CDH1 KRAS
44 synovium cancer 10.1 IL1B IL1RN
45 benign shuddering attacks 10.0 CDH1 KRAS
46 apocrine adenocarcinoma 10.0 CDH1 KRAS
47 paroxysmal nocturnal hemoglobinuria 9.9 CDH1 KRAS
48 diamond-blackfan anemia 3 9.9 CDH1 IL1B IL1RN
49 histiocytic and dendritic cell cancer 9.9 CDH1 IL1B IL1RN
50 gallbladder cancer 9.9 CDH1 KRAS

Graphical network of the top 20 diseases related to Gastric Cancer Risk After H. Pylori Infection:



Diseases related to Gastric Cancer Risk After H. Pylori Infection

Symptoms & Phenotypes for Gastric Cancer Risk After H. Pylori Infection

Symptoms via clinical synopsis from OMIM:

54

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 Risk After H. Pylori Infection:

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

UMLS symptoms related to Gastric Cancer Risk After H. Pylori Infection:


dyspepsia

GenomeRNAi Phenotypes related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.32 KRAS
2 Decreased viability GR00106-A-0 9.32 KRAS
3 Decreased viability GR00221-A-1 9.32 CDH1 KRAS MAP3K6
4 Decreased viability GR00221-A-2 9.32 KRAS MAP3K6
5 Decreased viability GR00301-A 9.32 CDH1 KRAS
6 Decreased viability GR00381-A-1 9.32 KRAS

MGI Mouse Phenotypes related to Gastric Cancer Risk After H. Pylori Infection:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 IL1B IL1RN KRAS CDH1 CTNNA1
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 Risk After H. Pylori Infection

Drugs for Gastric Cancer Risk After H. Pylori Infection (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 56)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amoxicillin Approved, Vet_approved Phase 4,Phase 3 26787-78-0 33613 2171
2
Clarithromycin Approved Phase 4,Phase 3 81103-11-9 84029
3
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
4
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
5
Ofloxacin Approved Phase 4 82419-36-1 4583
6
Coal tar Approved Phase 4 8007-45-2
7
Metronidazole Approved Phase 4 443-48-1 4173
8
Dexlansoprazole Approved Phase 4,Phase 3 138530-94-6, 103577-45-3 9578005
9
Lansoprazole Approved, Investigational Phase 4,Phase 3 103577-45-3 3883
10
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
11
Furazolidone Approved, Vet_approved Phase 4 67-45-8 3435 5323714
12
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
13
Loperamide Approved Phase 4 53179-11-6 3955
14
Pectin Approved, Vet_approved Phase 4 9000-69-5 441476
15
Tinidazole Approved, Investigational Phase 4 19387-91-8 5479
16 Anti-Bacterial Agents Phase 4,Phase 3
17 Antibiotics, Antitubercular Phase 4
18 Antacids Phase 4,Phase 3
19 Anti-Infective Agents Phase 4,Phase 3
20 Antiparasitic Agents Phase 4
21 Antiprotozoal Agents Phase 4
22 Anti-Ulcer Agents Phase 4,Phase 3
23 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3
24 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3
25 Gastrointestinal Agents Phase 4,Phase 3
26
Proton pump inhibitors Phase 4,Phase 3
27
Bismuth Phase 4 7440-69-9 16682734 105143
28 Alkylating Agents Phase 4
29 Antidiarrheals Phase 4
30 Anti-Infective Agents, Local Phase 4
31 Antitubercular Agents Phase 4
32 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
33 Cytochrome P-450 CYP1A2 Inhibitors Phase 4
34 Monoamine Oxidase Inhibitors Phase 4
35 Renal Agents Phase 4
36 Topoisomerase Inhibitors Phase 4
37 Vaccines Phase 3
38
Simvastatin Approved 79902-63-9 54454
39
Omeprazole Approved, Investigational, Vet_approved 73590-58-6 4594
40 Antibodies
41 Gastrins
42 Immunoglobulins
43 Analgesics
44 Analgesics, Non-Narcotic
45 Anti-Inflammatory Agents
46 Anti-Inflammatory Agents, Non-Steroidal
47 Antirheumatic Agents
48 Cyclooxygenase 2 Inhibitors
49 Cyclooxygenase Inhibitors
50 Peripheral Nervous System Agents

Interventional clinical trials:

(show all 20)

id Name Status NCT ID Phase Drugs
1 Community-based Helicobacter Pylori Eradication Unknown status NCT00155389 Phase 4 Helicobacter pylori eradication
2 Comparison of Sequential or Concomitant Therapy for Helicobacter Pylori Infection Completed NCT00656968 Phase 4 10-day sequential treatment;10-day concomitant therapy
3 Multicentric Randomized Study of H. Pylori Eradication and Pepsinogen Testing for Prevention of Gastric Cancer Mortality Recruiting NCT02047994 Phase 4 Triple therapy
4 Intraluminal Therapy for Helicobacter Pylori Infection Recruiting NCT03124420 Phase 4 Lansoprazole;Amoxicillin;Clarithromycin
5 Antimicrobial Susceptibility Testing Guided Antibiotic Selection Strategies in Salvage Helicobacter Pylori Treatment Recruiting NCT02988089 Phase 4 Clarithromycin susceptibility dependant strategy;2 susceptible antibiotics (amoxicillin, clarithromycin, metronidazole, tinidazole,levofloxacin, furazolidone and tetracycline );proton pump inhibitor (PPI) and Colloidal Bismuth Pectin;amoxicillin and clarithromycin or amoxicillin and furazolidone;amoxicillin and furazolidone or amoxicillin and tetracycline;amoxicillin and furazolidone or amoxicillin and Tinidazole or amoxicillin and Levofloxacin
6 A Phase Ⅲ Clinical Trial With Oral Recombinant Helicobacter Pylori Vaccine in Chinese Children Completed NCT02302170 Phase 3
7 Gastric Cancer Prevention in the Family Members by Helicobacter Pylori Eradication Active, not recruiting NCT01678027 Phase 3 Placebo;LAC triple therapy
8 Gastropanel for Gastric Atrophy and Cancer Risk Assessment Unknown status NCT02114411
9 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134 Triple therapy for H. pylori infection;Cox-2 inhibitor
10 Role of Statin on the Gastric Inflammation in Patients at High Risk of Gastric Cancer Unknown status NCT01813994 Arm1: Statin;Arm2: Placebo
11 The Revolutions of Helicobacter Pylori Infection, Bacterial Density, and Histological Features After Antrectomy Unknown status NCT00441831
12 The Efficacy of Serum Pepsinogen for Prediction of Metachronous Gastric Neoplasm Completed NCT02682446 H pylori eradication
13 Long-term Follow-up Prognosis of Atrophic Gastritis After 3 Years Completed NCT01824953
14 Risk Factors for Gastric Disease in Pediatric Helicobacter Pylori (H. Pylori) Completed NCT00212225
15 New Technology to Differentiate Normal Gastric Mucosa From Helicobacter Pylori Associated Gastritis and Gastric Atrophy Completed NCT02597517
16 Primary Antimicrobial Resistance Patterns of Austrian Helicobacter Pylori Clinical Isolates Completed NCT02925091
17 Reinfection After Eradication of Helicobacter Pylori Infection Recruiting NCT02674802
18 Volatile Markers in Digestive Cancer Recruiting NCT02332213
19 Helicobacter Pylori Eradication to Prevent Gastric Cancer Active, not recruiting NCT01133951 OAC triple therapy;Placebo
20 Diagnosis of Gastric Precancerous Lesions by a Blood Test GastroPanel in Patients With Increased Gastric Cancer Risk Not yet recruiting NCT02624271

Search NIH Clinical Center for Gastric Cancer Risk After H. Pylori Infection

Genetic Tests for Gastric Cancer Risk After H. Pylori Infection

Genetic tests related to Gastric Cancer Risk After H. Pylori Infection:

id Genetic test Affiliating Genes
1 Hereditary Diffuse Gastric Cancer 29 24 CDH1

Anatomical Context for Gastric Cancer Risk After H. Pylori Infection

MalaCards organs/tissues related to Gastric Cancer Risk After H. Pylori Infection:

39
Breast, Liver, Bone, Small Intestine, Lymph Node, Testes

Publications for Gastric Cancer Risk After H. Pylori Infection

Variations for Gastric Cancer Risk After H. Pylori Infection

UniProtKB/Swiss-Prot genetic disease variations for Gastric Cancer Risk After H. Pylori Infection:

71
id 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 Risk After H. Pylori Infection:

6 (show all 49)
id Gene Variation Type Significance SNP ID Assembly Location
1 CDH1 NM_004360.4(CDH1): c.781G> T (p.Glu261Ter) single nucleotide variant Pathogenic rs121964873 GRCh37 Chromosome 16, 68844193: 68844193
2 CDH1 CDH1, 1-BP INS, 2382C insertion Pathogenic
3 CDH1 NM_004360.4(CDH1): c.2095C> T (p.Gln699Ter) single nucleotide variant Pathogenic rs121964874 GRCh37 Chromosome 16, 68857460: 68857460
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.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs121964876 GRCh37 Chromosome 16, 68772221: 68772221
7 CDH1 NM_004360.4(CDH1): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs121964877 GRCh37 Chromosome 16, 68855984: 68855984
8 CDH1 CDH1, 1-BP INS, 1711G insertion Pathogenic
9 CDH1 CDH1, 1-BP INS, 1588C insertion Pathogenic
10 CDH1 NM_004360.4(CDH1): c.1901C> T (p.Ala634Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964878 GRCh37 Chromosome 16, 68856093: 68856093
11 CDH1 CDH1, IVS4DS, T-A, +2 single nucleotide variant Pathogenic
12 CDH1 CDH1, 1137G-A single nucleotide variant Pathogenic
13 CDH1 CDH1, 1-BP INS, 517A insertion Pathogenic
14 CDH1 nsv513771 deletion Pathogenic
15 CDH1 CDH1, 828-BP DEL/3-BP INS, EX16 indel Pathogenic
16 CDH1 NM_004360.4(CDH1): c.1008G> T (p.Glu336Asp) single nucleotide variant Pathogenic rs267606712 GRCh37 Chromosome 16, 68845762: 68845762
17 CDH1 NM_004360.4(CDH1): c.1565+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587780113 GRCh38 Chromosome 16, 68815760: 68815760
18 CDH1 NM_004360.4(CDH1): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs587780784 GRCh38 Chromosome 16, 68811854: 68811854
19 CDH1 NM_004360.4(CDH1): c.2287G> T (p.Glu763Ter) single nucleotide variant Pathogenic rs587780787 GRCh38 Chromosome 16, 68828296: 68828296
20 CDH1 NM_004360.4(CDH1): c.2064_2065delTG (p.Cys688Terfs) deletion Pathogenic rs587781276 GRCh38 Chromosome 16, 68823526: 68823527
21 CDH1 NM_004360.4(CDH1): c.1023T> G (p.Tyr341Ter) single nucleotide variant Pathogenic rs587776398 GRCh38 Chromosome 16, 68812149: 68812149
22 CDH1 NM_004360.4(CDH1): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs587783047 GRCh38 Chromosome 16, 68801693: 68801693
23 CDH1 NM_004360.4(CDH1): c.2398delC (p.Arg800Alafs) deletion Pathogenic rs587783048 GRCh38 Chromosome 16, 68829756: 68829756
24 CDH1 NM_004360.4(CDH1): c.1137G> A (p.Thr379=) single nucleotide variant Pathogenic/Likely pathogenic rs587783050 GRCh38 Chromosome 16, 68812263: 68812263
25 CDH1 NM_004360.4(CDH1): c.2430delT (p.Phe810Leufs) deletion Pathogenic/Likely pathogenic rs786203752 GRCh37 Chromosome 16, 68863691: 68863691
26 CDH1 NM_004360.4(CDH1): c.388-?_*2042+?del deletion Pathogenic GRCh38 Chromosome 16, 68808424: 68835541
27 CDH1 NM_004360.4(CDH1): c.504delA (p.Gly169Alafs) deletion Pathogenic rs864622655 GRCh37 Chromosome 16, 68842443: 68842443
28 CDH1 NM_004360.4(CDH1): c.1064delT (p.Leu355Terfs) deletion Pathogenic rs863224505 GRCh37 Chromosome 16, 68846093: 68846093
29 CDH1 NM_004360.4(CDH1): c.1220delC deletion Pathogenic rs886037822 GRCh38 Chromosome 16, 68813395: 68813395
30 CDH1 NM_004360.4(CDH1): c.1137+1G> A single nucleotide variant Pathogenic rs876660771 GRCh37 Chromosome 16, 68846167: 68846167
31 CDH1 NM_004360.4(CDH1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs878854691 GRCh38 Chromosome 16, 68737418: 68737418
32 CDH1 NM_004360.4(CDH1): c.220C> T (p.Arg74Ter) single nucleotide variant Pathogenic rs876658932 GRCh38 Chromosome 16, 68801726: 68801726
33 CDH1 NM_004360.4(CDH1): c.360dupG (p.His121Alafs) duplication Pathogenic rs878854690 GRCh37 Chromosome 16, 68835769: 68835769
34 CDH1 NM_004360.4(CDH1): c.832+1G> T single nucleotide variant Likely pathogenic rs878854697 GRCh38 Chromosome 16, 68810342: 68810342
35 CDH1 NM_004360.4(CDH1): c.2296-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057517542 GRCh38 Chromosome 16, 68829653: 68829653
36 CDH1 NC_000016.10: g.(?_68737292)_(68835541_?)del deletion Pathogenic GRCh37 Chromosome 16, 68771195: 68869444
37 CDH1 NC_000016.10: g.(?_68801670)_(68801893_?)del deletion Pathogenic GRCh38 Chromosome 16, 68801670: 68801893
38 CDH1 NM_004360.4(CDH1): c.377delC (p.Pro126Argfs) deletion Pathogenic rs1060501215 GRCh38 Chromosome 16, 68801883: 68801883
39 CDH1 NM_004360.4(CDH1): c.696_697delTC (p.His233Argfs) deletion Pathogenic rs1060501214 GRCh38 Chromosome 16, 68810205: 68810206
40 CDH1 NM_004360.4(CDH1): c.1565+1G> C single nucleotide variant Pathogenic rs587780113 GRCh38 Chromosome 16, 68815760: 68815760
41 CDH1 NM_004360.4(CDH1): c.1565+2dupT duplication Likely pathogenic GRCh37 Chromosome 16, 68849664: 68849664
42 CDH1 NC_000016.10: g.(?_68737292)_(68738411_?)del deletion Pathogenic GRCh38 Chromosome 16, 68737292: 68738411
43 CDH1 NM_004360.4(CDH1): c.532-1G> C single nucleotide variant Likely pathogenic rs771085839 GRCh38 Chromosome 16, 68808692: 68808692
44 CDH1 NM_004360.4(CDH1): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs876659503 GRCh38 Chromosome 16, 68810302: 68810302
45 CDH1 NM_004360.4(CDH1): c.49-2A> G single nucleotide variant Pathogenic rs1060501226 GRCh38 Chromosome 16, 68738295: 68738295
46 CDH1 NM_004360.4(CDH1): c.1008+2T> C single nucleotide variant Likely pathogenic rs1060501237 GRCh37 Chromosome 16, 68845764: 68845764
47 CDH1 NM_004360.4(CDH1): c.1895_1896delAC (p.His632Argfs) deletion Pathogenic rs1060501224 GRCh38 Chromosome 16, 68822184: 68822185
48 CDH1 NM_004360.4(CDH1): c.2324delG (p.Gly775Alafs) deletion Pathogenic rs1060501248 GRCh38 Chromosome 16, 68829682: 68829682
49 CDH1 NM_004360.4(CDH1): c.1612delG (p.Asp538Thrfs) deletion Pathogenic GRCh38 Chromosome 16, 68819326: 68819326

Cosmic variations for Gastric Cancer Risk After H. Pylori Infection:

9 (show top 50) (show all 1809)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM5575704 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.2285G>A p.R762H 9
2 COSM5575790 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.1159G>A p.A387T 9
3 COSM5576102 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.443G>A p.C148Y 9
4 COSM5576231 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.3434T>G p.V1145G 9
5 COSM5576098 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.1136G>A p.R379Q 9
6 COSM3732832 ZNF341 stomach,NS,carcinoma,adenocarcinoma c.2512G>A p.A838T 9
7 COSM5576197 XPO1 stomach,NS,carcinoma,adenocarcinoma c.479G>A p.S160N 9
8 COSM926359 WT1 stomach,NS,carcinoma,adenocarcinoma c.1298G>A p.R433H 9
9 COSM20570 WEE2 stomach,NS,carcinoma,adenocarcinoma c.996C>G p.N332K 9
10 COSM3732855 USH2A stomach,NS,carcinoma,adenocarcinoma c.11927C>T p.T3976M 9
11 COSM3732971 USH2A stomach,NS,carcinoma,adenocarcinoma c.8488A>T p.I2830F 9
12 COSM3732707 USH2A stomach,NS,carcinoma,adenocarcinoma c.140A>T p.K47M 9
13 COSM3732771 USH2A stomach,NS,carcinoma,adenocarcinoma c.11815G>A p.E3939K 9
14 COSM3732767 USH2A stomach,NS,carcinoma,adenocarcinoma c.11734G>A p.E3912K 9
15 COSM5575712 UBR5 stomach,NS,carcinoma,adenocarcinoma c.5261G>A p.R1754Q 9
16 COSM1094394 UBR5 stomach,NS,carcinoma,adenocarcinoma c.5561G>A p.R1854H 9
17 COSM5575753 TSC2 stomach,NS,carcinoma,adenocarcinoma c.2357G>A p.R786H 9
18 COSM5576247 TSC2 stomach,NS,carcinoma,adenocarcinoma c.2803G>T p.A935S 9
19 COSM5576069 TSC1 stomach,NS,carcinoma,adenocarcinoma c.2143C>T p.R715W 9
20 COSM5576201 TRRAP stomach,NS,carcinoma,adenocarcinoma c.2075A>G p.Y692C 9
21 COSM5576203 TRRAP stomach,NS,carcinoma,adenocarcinoma c.8165C>T p.P2722L 9
22 COSM5575742 TRRAP stomach,NS,carcinoma,adenocarcinoma c.622G>A p.E208K 9
23 COSM20551 TRRAP stomach,NS,carcinoma,adenocarcinoma c.5117G>A p.R1706H 9
24 COSM2866680 TRRAP stomach,NS,carcinoma,adenocarcinoma c.5956C>T p.R1986W 9
25 COSM5575878 TRRAP stomach,NS,carcinoma,adenocarcinoma c.10447G>A p.A3483T 9
26 COSM20550 TRRAP stomach,NS,carcinoma,adenocarcinoma c.477A>G p.K159K 9
27 COSM20561 TRPM7 stomach,NS,carcinoma,adenocarcinoma c.2488A>G p.M830V 9
28 COSM1542406 TRIO stomach,NS,carcinoma,adenocarcinoma c.6611A>G p.K2204R 9
29 COSM5575966 TRIM33 stomach,NS,carcinoma,adenocarcinoma c.817C>A p.P273T 9
30 COSM5575609 TRIM33 stomach,NS,carcinoma,adenocarcinoma c.1231C>T p.H411Y 9
31 COSM5576260 TRIM24 stomach,NS,carcinoma,adenocarcinoma c.3115C>T p.R1039C 9
32 COSM5576172 TRIM24 stomach,NS,carcinoma,adenocarcinoma c.706G>C p.E236Q 9
33 COSM5576261 TRIM24 stomach,NS,carcinoma,adenocarcinoma c.3013C>T p.R1005C 9
34 COSM5576173 TRIM24 stomach,NS,carcinoma,adenocarcinoma c.706G>C p.E236Q 9
35 COSM5575610 TPR stomach,NS,carcinoma,adenocarcinoma c.3721A>G p.S1241G 9
36 COSM10662 TP53 stomach,NS,carcinoma,adenocarcinoma c.743G>A p.R248Q 9
37 COSM10705 TP53 stomach,NS,carcinoma,adenocarcinoma c.586C>T p.R196* 9
38 COSM10663 TP53 stomach,NS,carcinoma,adenocarcinoma c.916C>T p.R306* 9
39 COSM10654 TP53 stomach,NS,carcinoma,adenocarcinoma c.637C>T p.R213* 9
40 COSM10905 TP53 stomach,NS,carcinoma,adenocarcinoma c.451C>T p.P151S 9
41 COSM43606 TP53 stomach,NS,carcinoma,adenocarcinoma c.734G>A p.G245D 9
42 COSM10656 TP53 stomach,NS,carcinoma,adenocarcinoma c.742C>T p.R248W 9
43 COSM10648 TP53 stomach,NS,carcinoma,adenocarcinoma c.524G>A p.R175H 9
44 COSM10704 TP53 stomach,NS,carcinoma,adenocarcinoma c.844C>T p.R282W 9
45 COSM11148 TP53 stomach,NS,carcinoma,adenocarcinoma c.476C>T p.A159V 9
46 COSM10659 TP53 stomach,NS,carcinoma,adenocarcinoma c.817C>T p.R273C 9
47 COSM11501 TP53 stomach,NS,carcinoma,adenocarcinoma c.823T>G p.C275G 9
48 COSM43844 TP53 stomach,NS,carcinoma,adenocarcinoma c.613T>G p.Y205D 9
49 COSM10808 TP53 stomach,NS,carcinoma,adenocarcinoma c.488A>G p.Y163C 9
50 COSM10651 TP53 stomach,NS,carcinoma,adenocarcinoma c.530C>G p.P177R 9

Copy number variations for Gastric Cancer Risk After H. Pylori Infection from CNVD:

7
id 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 Risk After H. Pylori Infection

Search GEO for disease gene expression data for Gastric Cancer Risk After H. Pylori Infection.

Pathways for Gastric Cancer Risk After H. Pylori Infection

Pathways related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards Suite gene sharing:

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 CDH1 CTNNA1 IL1B KRAS
2
Show member pathways
12.45 CDH1 CTNNA1 KRAS
3 12.34 IL1B KRAS MAP3K6
4 12.3 CDH1 CTNNA1 KRAS
5
Show member pathways
12.27 IL1B KRAS MAP3K6
6
Show member pathways
12 IL1B IL1RN KRAS
7 11.9 CDH1 CTNNA1 MAP3K6
8 11.46 CDH1 CTNNA1
9 11.45 CDH1 IL1B
10 11.42 CDH1 KRAS
11 11.4 CDH1 CTNNA1
12 11.17 IL1B IL1RN
13 11.1 CDH1 CTNNA1
14 11.03 CDH1 CTNNA1
15 11.01 CDH1 CTNNA1
16 10.78 CDH1 CTNNA1
17 10.55 CDH1 CTNNA1
18 10.23 CDH1 CTNNA1
19 9.74 CDH1 CTNNA1

GO Terms for Gastric Cancer Risk After H. Pylori Infection

Cellular components related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell-cell adherens junction GO:0005913 9.16 CDH1 CTNNA1
2 catenin complex GO:0016342 8.96 CDH1 CTNNA1
3 flotillin complex GO:0016600 8.62 CDH1 CTNNA1

Biological processes related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to glucocorticoid GO:0051384 9.32 IL1RN KRAS
2 adherens junction organization GO:0034332 9.26 CDH1 CTNNA1
3 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.16 CTNNA1 IL1B
4 fever generation GO:0001660 8.65 IL1B
5 cellular response to indole-3-methanol GO:0071681 8.62 CDH1 CTNNA1

Molecular functions related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards Suite gene sharing:

id 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 Risk After H. Pylori Infection

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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