HDGC
MCID: GST103
MIFTS: 64

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 56 52 37
Hereditary Diffuse Gastric Cancer 24 52 25 58 73 29 6 71
Hdgc 56 24 52 25 58 73
Hereditary Diffuse Gastric Adenocarcinoma 52 25 58
Familial Diffuse Gastric Cancer 52 25 58
Fdgc 52 25 58
Hereditary Diffuse Cancer of Stomach 52 58
Familial Diffuse Cancer of Stomach 52 58
Gastric Cancer, Familial Diffuse 56 52
Gastric Cancer, Familial Diffuse, and Cleft Lip with or Without Cleft Palate 6
Gastric Cancer, Hereditary Diffuse, with or Without Cleft Lip and/or Palate 56
Gastric Cancer Familial Diffuse and Cleft Lip with or Without Cleft Palate 73
E-Cadherin-Associated Hereditary Gastric Cancer 25
Gastric Cancer Risk After H. Pylori Infection 56
Gastric Cancer, Hereditary Diffuse; Hdgc 56
Cancer, Gastric, Hereditary Diffuse 39
Gastric Cancer Familial Diffuse 73
Gastric Cancer, Somatic 56
Breast Cancer, Lobular 73
Lbc 73

Characteristics:

Orphanet epidemiological data:

58
hereditary diffuse gastric cancer
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

56
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:

31
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:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

OMIM 56 137215
ICD10 via Orphanet 33 C16.9
UMLS via Orphanet 72 C1708349
Orphanet 58 ORPHA26106
UMLS 71 C1708349

Summaries for Gastric Cancer, Hereditary Diffuse

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. Symptoms of diffuse gastric cancer occur late in the disease and can include stomach pain, nausea, vomiting, difficulty swallowing (dysphagia), decreased appetite, and weight loss. If the cancer metastasizes to other tissues, it may lead to an enlarged liver, yellowing of the eyes and skin (jaundice), an abnormal buildup of fluid in the abdominal cavity (ascites), firm lumps under the skin, or broken bones. In HDGC, gastric cancer usually occurs in a person's late thirties or early forties, although it can develop anytime during adulthood. If diffuse gastric cancer is detected early, the survival rate is high; however, because this type of cancer is hidden underneath the stomach lining, it is usually not diagnosed until the cancer has become widely invasive. At that stage of the disease, the survival rate is approximately 20 percent. Some people with HDGC have an increased risk of developing other types of cancer, such as a form of breast cancer in women that begins in the milk-producing glands (lobular breast cancer); prostate cancer; and cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. Most people with HDGC have family members who have had one of the types of cancer associated with HDGC. In some families, all the affected members have diffuse gastric cancer. In other families, some affected members have diffuse gastric cancer and others have another associated form of cancer, such as lobular breast cancer. Frequently, HDGC-related cancers develop in individuals before the age of 50.

MalaCards based summary : Gastric Cancer, Hereditary Diffuse, also known as hereditary diffuse gastric cancer, is related to lobular neoplasia and diffuse 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 MAPK signaling pathway. The drugs Trastuzumab and Tamoxifen have been mentioned in the context of this disorder. Affiliated tissues include breast, colon and prostate, and related phenotypes are cleft palate and cleft upper lip

NIH Rare Diseases : 52 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.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 Hereditary diffuse gastric cancer (HDGC) is an inherited genetic syndrome most often caused by an... 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 118)
# Related Disease Score Top Affiliating Genes
1 lobular neoplasia 30.6 CTNNA1 CDH1
2 diffuse gastric cancer 30.5 KRAS CTNNA1 CDH1
3 signet ring cell adenocarcinoma 30.3 KRAS CDH1
4 endometrial adenocarcinoma 30.1 KRAS CDH1
5 cholangiocarcinoma 29.7 KRAS CTNNA1 CDH1
6 blepharocheilodontic syndrome 1 29.7 MAP3K6 CDH1
7 gastritis 29.6 IL1RN IL1B CDH1
8 gastric cancer 29.2 KRAS IL1RN IL1B CTNNA1 CDH1
9 gastric adenocarcinoma 28.3 KRAS IL1RN IL1B CTNNA1 CDH1
10 breast cancer 12.0
11 cervical cancer 10.3
12 generalized epilepsy with febrile seizures plus 10.3
13 cleft lip 10.3
14 in situ carcinoma 10.3
15 cleft lip/palate 10.2
16 respiratory system benign neoplasm 10.2 KRAS CDH1
17 pseudomyxoma peritonei 10.2 KRAS CDH1
18 mixed cell type cancer 10.2 KRAS CDH1
19 bronchiolo-alveolar adenocarcinoma 10.1 KRAS CDH1
20 colonic benign neoplasm 10.1 KRAS CDH1
21 crohn's colitis 10.1 IL1B CDH1
22 ovarian serous carcinoma 10.1 KRAS CDH1
23 papillary adenocarcinoma 10.1 KRAS CDH1
24 ductal carcinoma in situ 10.1
25 small intestine cancer 10.1 KRAS CDH1
26 cleft palate, isolated 10.1
27 helicobacter pylori infection 10.1
28 hereditary breast ovarian cancer syndrome 10.1
29 bladder cancer 10.0
30 leukemia, chronic lymphocytic 10.0
31 prostate cancer 10.0
32 pulmonary hypertension, primary, 1 10.0
33 thyroid cancer, nonmedullary, 1 10.0
34 triiodothyronine receptor auxiliary protein 10.0
35 osteogenic sarcoma 10.0
36 leukemia, acute lymphoblastic 10.0
37 myelodysplastic syndrome 10.0
38 sialadenitis 10.0
39 lymphocytic leukemia 10.0
40 leukemia 10.0
41 squamous cell papilloma 10.0
42 papilloma 10.0
43 thyroid gland papillary carcinoma 10.0
44 intrahepatic cholangiocarcinoma 10.0
45 intestinal disease 10.0
46 neuroblastoma 10.0
47 malakoplakia 10.0
48 ovary adenocarcinoma 10.0 KRAS CDH1
49 systemic onset juvenile idiopathic arthritis 10.0 IL1RN IL1B
50 vulvar vestibulitis syndrome 10.0 IL1RN IL1B

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

Human phenotypes related to Gastric Cancer, Hereditary Diffuse:

31
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 occasional (7.5%) HP:0000175
2 cleft upper lip 31 occasional (7.5%) HP:0000204
3 stomach cancer 31 HP:0012126
4 chronic atrophic gastritis 31 HP:0002582

Symptoms via clinical synopsis from OMIM:

56
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

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:

45
# 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

Drugs for Gastric Cancer, Hereditary Diffuse (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
2
Tamoxifen Approved Phase 2 10540-29-1 2733526
3
Sodium citrate Approved, Investigational Phase 2 68-04-2
4
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
5 Antineoplastic Agents, Immunological Phase 2
6 Hormone Antagonists Phase 2
7 Hormones Phase 2
8 Estrogens Phase 2
9 Citrate Phase 2
10 Selective Estrogen Receptor Modulators Phase 2
11 Estrogen Receptor Antagonists Phase 2
12 Estrogen Antagonists Phase 2
13 Antineoplastic Agents, Hormonal Phase 2
14 Estrogen Receptor Modulators Phase 2
15
acetic acid Approved 64-19-7 176
16
Somatostatin Approved, Investigational 51110-01-1, 38916-34-6 53481605
17
Rifaximin Approved, Investigational 80621-81-4 6436173 46783403
18
Retinol acetate 127-47-9 10245972
19 Gastrointestinal Agents
20 Anti-Infective Agents
21 Anti-Bacterial Agents
22 Antibiotics, Antitubercular

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Phase II Study Evaluating Confocal Endoscopic Microscopy for Detection of Early Stage Gastric Cancer in Subjects With Hereditary Diffuse Gastric Cancer Syndrome Recruiting NCT03648879 Phase 2
2 Efficacy of Adding Trastuzumab to Standard Chemotherapy in Patients With Advanced HER2-negative Gastric Cancer and HER2 Positive Expression in Circulating Tumor Cells Not yet recruiting NCT04168931 Phase 2 Trastuzumab
3 An Exploratory Study to Identify Potential Surrogate Endpoint Biomarkers That Are Modulated by Tamoxifen vs. Placebo in Women With an Increased Risk for Breast Cancer Terminated NCT00096369 Phase 2 tamoxifen citrate
4 Epidemiological, Clinical and Pathological Characteristics of Gastric Tumors. The Population Based Specialized Registry in Northern Italy Unknown status NCT01662739
5 Single-bite Versus Double-bite Technique for Mapping Biopsies During Endoscopic Surveillance of Hereditary Diffuse Gastric Cancer: a Single Center, Randomized Controlled Trial Completed NCT03950908
6 Magnetic Resonance Imaging (MRI) for Preoperative Staging of Patients With Invasive Lobular Carcinoma of the Breast Completed NCT00610181
7 Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer Recruiting NCT03030404
8 Early Onset and Familial Gastric Cancer Registry Active, not recruiting NCT00582257
9 Collection of Retrospective (Archival) Samples and Prospective Collection of Surplus Tissue and Blood Samples Enrolling by invitation NCT02239575
10 FATLAS: Comprehensive Multi-level Characterization of Systemic and Mammary Adiposity in Breast Cancer Patients. Not yet recruiting NCT04200768
11 Screening for Familial Gastric Cancer in First Degree Relatives Terminated NCT01727908
12 The Metabolic Consequences of Gastrointestinal Surgery Terminated NCT02836353 Somatostatin;Rifaximin
13 Surrogate Endpoints in Prevention Studies and Ductal Lavage Withdrawn NCT00083044

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 21498393 22996367 19304471 22555974 15800326 23650429 21325070 8170938 12242449 24218514 23904171

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:

40
Breast, Colon, Prostate, Eye, Small Intestine, Bone, Lymph Node

Publications for Gastric Cancer, Hereditary Diffuse

Articles related to Gastric Cancer, Hereditary Diffuse:

(show top 50) (show all 402)
# Title Authors PMID Year
1
Germline CDH1 deletions in hereditary diffuse gastric cancer families. 61 24 56 6
19168852 2009
2
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. 61 24 56 6
15831593 2006
3
Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. 61 24 56 6
11968083 2002
4
Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. 24 56 6
10072428 1999
5
Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. 24 56 6
9751616 1998
6
E-cadherin germline mutations in familial gastric cancer. 24 56 6
9537325 1998
7
Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. 61 56 6
11419427 2001
8
E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. 61 56 6
10477433 1999
9
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. 61 24 56
25979631 2015
10
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. 61 24 56
20591882 2010
11
Germline E-cadherin mutations in familial lobular breast cancer. 61 24 6
17660459 2007
12
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. 61 24 56
15235021 2004
13
Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands. 61 24 6
12588804 2003
14
Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? 56 6
11443625 2001
15
E-cadherin mutation-based genetic counseling and hereditary diffuse gastric carcinoma. 56 6
11104024 2000
16
Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. 61 24 56
10973239 2000
17
Familial gastric cancer: overview and guidelines for management. 61 24 56
10593993 1999
18
FAMILIAL GASTRIC CANCER. 56 6
14158754 1964
19
E-cadherin gene mutations in human gastric carcinoma cell lines. 24 6
8127895 1994
20
Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance. 61 6
22388873 2012
21
Hereditary Diffuse Gastric Cancer 61 6
20301318 2002
22
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. 61 24
28688938 2018
23
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer. 61 24
28024868 2017
24
Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients. 61 24
27995193 2016
25
Prophylactic Total Gastrectomy: a Prospective Cohort Study of Long-Term Impact on Quality of Life. 61 24
27752808 2016
26
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 61 24
26182300 2015
27
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 6
25645574 2015
28
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
29
Hereditary diffuse gastric cancer in a Japanese family with a large deletion involving CDH1. 61 24
24037103 2014
30
The impact of prophylactic total gastrectomy on health-related quality of life: a prospective cohort study. 61 24
24424140 2014
31
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. 56
23709761 2013
32
De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer. 61 24
21696387 2012
33
Familial gastric cancer and germline mutations of E-cadherin. 61 24
22595728 2012
34
Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. 61 24
20921021 2011
35
Pregnancy after prophylactic total gastrectomy. 61 24
20063069 2010
36
A novel truncating mutation in the E-cadherin gene in the first Iranian family with hereditary diffuse gastric cancer. 61 24
20471195 2010
37
Germline mutation of the E-cadherin gene in three sibling cases with advanced gastric cancer: clinical consequences for the other family members. 61 24
19474748 2010
38
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 6
20065170 2010
39
Histopathological and molecular analysis of gastrectomy specimens from hereditary diffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk. 61 24
18825658 2008
40
[Hereditary diffuse gastric cancer (HDGC): presentation of a family with a new mutation of the CDH1 gene]. 61 24
17955726 2007
41
CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. 61 24
17522512 2007
42
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. 61 24
17545690 2007
43
Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. 61 24
17126523 2007
44
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 6
17392385 2007
45
Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. 61 24
17221870 2007
46
A novel mutation in the E-cadherin gene in the first family with hereditary diffuse gastric cancer reported in Spain. 61 24
16870389 2006
47
Hereditary diffuse gastric cancer: diagnosis and management. 61 24
16527687 2006
48
Genetics, pathology, and clinics of familial gastric cancer. 61 24
16501831 2006
49
Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. 61 24
16061854 2005
50
Gastric cancer: new genetic developments. 61 24
15895459 2005

Variations for Gastric Cancer, Hereditary Diffuse

ClinVar genetic disease variations for Gastric Cancer, Hereditary Diffuse:

6 (show top 50) (show all 1031) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDH1 NM_004360.5(CDH1):c.1023T>G (p.Tyr341Ter)SNV Pathogenic 156374 rs587776398 16:68846052-68846052 16:68812149-68812149
2 CDH1 NM_004360.5(CDH1):c.187C>T (p.Arg63Ter)SNV Pathogenic 156496 rs587783047 16:68835596-68835596 16:68801693-68801693
3 CDH1 NM_004360.5(CDH1):c.2398del (p.Arg800fs)deletion Pathogenic 156497 rs587783048 16:68863656-68863656 16:68829753-68829753
4 CDH1 NM_004360.5(CDH1):c.1137G>A (p.Thr379=)SNV Pathogenic 156499 rs587783050 16:68846166-68846166 16:68812263-68812263
5 CDH1 NM_004360.5(CDH1):c.60G>A (p.Trp20Ter)SNV Pathogenic 187239 rs786203576 16:68772211-68772211 16:68738308-68738308
6 CDH1 NM_004360.5(CDH1):c.1999del (p.Leu667fs)deletion Pathogenic 185252 rs786202033 16:68857364-68857364 16:68823461-68823461
7 CDH1 NM_004360.5(CDH1):c.2430del (p.Phe810fs)deletion Pathogenic 187464 rs786203752 16:68863688-68863688 16:68829785-68829785
8 CDH1 NM_004360.4(CDH1):c.388-?_*2042+?deldeletion Pathogenic 220603 16:68842327-68869444 16:68808424-68835541
9 CDH1 NM_004360.5(CDH1):c.504del (p.Gly169fs)deletion Pathogenic 220776 rs864622655 16:68842439-68842439 16:68808536-68808536
10 CDH1 NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer)deletion Pathogenic 224528 rs1555515731 16:68846092-68846092 16:68812189-68812189
11 CDH1 NM_004360.4(CDH1):c.1220delCdeletion Pathogenic 224789 rs886037822 16:68847295-68847295 16:68813392-68813392
12 CDH1 NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg)SNV Pathogenic 234554 rs746481984 16:68853296-68853296 16:68819393-68819393
13 CDH1 NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter)SNV Pathogenic 12237 rs121964874 16:68857460-68857460 16:68823557-68823557
14 CDH1 CDH1, IVS1AS, A-G, -2SNV Pathogenic 12238
15 CDH1 NM_004360.5(CDH1):c.59G>A (p.Trp20Ter)SNV Pathogenic 12239 rs121964875 16:68772210-68772210 16:68738307-68738307
16 CDH1 NM_004360.5(CDH1):c.70G>T (p.Glu24Ter)SNV Pathogenic 12240 rs121964876 16:68772221-68772221 16:68738318-68738318
17 CDH1 NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)SNV Pathogenic 12241 rs121964877 16:68855984-68855984 16:68822081-68822081
18 CDH1 CDH1, 1-BP INS, 1711Ginsertion Pathogenic 12242
19 CDH1 CDH1, 1-BP INS, 1588Cinsertion Pathogenic 12243
20 CDH1 NM_004360.5(CDH1):c.531+2T>ASNV Pathogenic 12248 16:68842472-68842472 16:68808569-68808569
21 CDH1 CDH1, 1137G-ASNV Pathogenic 12249
22 CDH1 nsv513771deletion Pathogenic 12251
23 CDH1 CDH1, 828-BP DEL AND 3-BP INS, EX16indel Pathogenic 12252
24 KRAS NM_033360.4(KRAS):c.*12A>TSNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904
25 CDH1 NM_004360.5(CDH1):c.1565+1G>ASNV Pathogenic 127915 rs587780113 16:68849663-68849663 16:68815760-68815760
26 CDH1 NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)SNV Pathogenic 136055 rs587780784 16:68845757-68845757 16:68811854-68811854
27 CDH1 NM_004360.5(CDH1):c.2062_2063TG[1] (p.Cys688_Glu689delinsTer)short repeat Pathogenic 140781 rs587781276 16:68857427-68857428 16:68823524-68823525
28 CDH1 NM_004360.5(CDH1):c.1565+1G>TSNV Pathogenic 141206 rs587780113 16:68849663-68849663 16:68815760-68815760
29 CDH1 NM_004360.5(CDH1):c.521dup (p.Asn174fs)duplication Pathogenic 140803 rs587781290 16:68842455-68842456 16:68808552-68808553
30 CDH1 NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)SNV Pathogenic 142888 rs587782798 16:68847225-68847225 16:68813322-68813322
31 CDH1 NM_004360.5(CDH1):c.124_126delinsT (p.Pro42fs)indel Pathogenic 230956 rs876658865 16:68772275-68772277 16:68738372-68738374
32 CDH1 NM_004360.5(CDH1):c.1137+1deldeletion Pathogenic 231923 rs876659446 16:68846166-68846166 16:68812263-68812263
33 CDH1 NM_004360.5(CDH1):c.1472_1473AG[2] (p.Arg492fs)short repeat Pathogenic 231528 rs876659208 16:68849569-68849570 16:68815666-68815667
34 CDH1 NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)deletion Pathogenic 229907 rs876658261 16:68849584-68849590 16:68815681-68815687
35 CDH1 NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter)SNV Pathogenic 230451 rs876658575 16:68862205-68862205 16:68828302-68828302
36 CDH1 NM_004360.5(CDH1):c.3G>A (p.Met1Ile)SNV Pathogenic 239906 rs878854691 16:68771321-68771321 16:68737418-68737418
37 CDH1 NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)SNV Pathogenic 239891 rs876658932 16:68835629-68835629 16:68801726-68801726
38 CDH1 NM_004360.5(CDH1):c.360dup (p.His121fs)duplication Pathogenic 239903 rs878854690 16:68835765-68835766 16:68801862-68801863
39 CDH1 NM_004360.5(CDH1):c.832+1G>TSNV Pathogenic 239914 rs878854697 16:68844245-68844245 16:68810342-68810342
40 CDH1 NC_000016.9:g.(?_68771195)_(68869444_?)deldeletion Pathogenic 417388 16:68771195-68869444 16:68737292-68835541
41 CDH1 NC_000016.9:g.(?_68835573)_(68835796_?)deldeletion Pathogenic 417391 16:68835573-68835796 16:68801670-68801893
42 CDH1 NM_004360.5(CDH1):c.377del (p.Pro126fs)deletion Pathogenic 406616 rs1060501215 16:68835781-68835781 16:68801878-68801878
43 CDH1 NM_004360.5(CDH1):c.692_693TC[2] (p.His233fs)short repeat Pathogenic 406615 rs1060501214 16:68844104-68844105 16:68810201-68810202
44 CDH1 NM_004360.5(CDH1):c.1565+1G>CSNV Pathogenic 406622 rs587780113 16:68849663-68849663 16:68815760-68815760
45 CDH1 NC_000016.9:g.(?_68771195)_(68772314_?)deldeletion Pathogenic 417390 16:68771195-68772314 16:68737292-68738411
46 CDH1 NM_004360.5(CDH1):c.793G>T (p.Glu265Ter)SNV Pathogenic 406633 rs876659503 16:68844205-68844205 16:68810302-68810302
47 CDH1 NM_004360.5(CDH1):c.49-2A>GSNV Pathogenic 406631 rs1060501226 16:68772198-68772198 16:68738295-68738295
48 CDH1 NM_004360.5(CDH1):c.1565+2dupduplication Pathogenic 406624 rs1555516200 16:68849663-68849664 16:68815760-68815761
49 CDH1 NM_004360.5(CDH1):c.1891_1892AC[2] (p.His632fs)short repeat Pathogenic 406628 rs1060501224 16:68856083-68856084 16:68822184-68822185
50 CDH1 NM_004360.5(CDH1):c.1565+1deldeletion Pathogenic 421639 rs1064795267 16:68849663-68849663 16:68815760-68815760

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

73
# 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

Cosmic variations for Gastric Cancer, Hereditary Diffuse:

9 (show top 50) (show all 70850)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88264551 ZRSR2 breast,NS,carcinoma,lobular carcinoma c.772-1G>C p.? 23:15818586-15818586 18
2 COSM94780361 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.1159G>A p.A387T 18:25226759-25226759 18
3 COSM94777296 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.2285G>A p.R762H 18:25225633-25225633 18
4 COSM94795709 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.3434T>G p.V1145G 18:25224484-25224484 18
5 COSM94788727 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.443G>A p.C148Y 18:25227475-25227475 18
6 COSM99686061 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.1319G>A p.R440Q 12:6669044-6669044 18
7 COSM98293254 ZNF341 stomach,NS,carcinoma,adenocarcinoma c.2533G>A p.A845T 20:33791485-33791485 18
8 COSM149285883 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.4556C>G p.S1519* 16:72798126-72798126 18
9 COSM149315898 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.7262C>G p.S2421* 16:72795420-72795420 18
10 COSM149270832 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.9220C>T p.Q3074* 16:72793462-72793462 18
11 COSM149288723 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1081G>A p.G361R 16:72959065-72959065 18
12 COSM149261321 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1858C>T p.H620Y 16:72958288-72958288 18
13 COSM149332052 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.5929G>C p.G1977R 16:72796753-72796753 18
14 COSM149318848 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.4553G>T p.G1518V 16:72798129-72798129 18
15 COSM149318790 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.8198G>T p.R2733L 16:72794484-72794484 18
16 COSM149315912 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.795C>A p.D265E 16:72959351-72959351 18
17 COSM152021882 YES1 stomach,NS,carcinoma,adenocarcinoma c.350G>A p.R117K 18:751726-751726 18
18 COSM152021957 YES1 breast,NS,carcinoma,lobular carcinoma c.1090G>C p.D364H 18:739782-739782 18
19 COSM143039512 YAP1 stomach,NS,carcinoma,adenocarcinoma c.356C>G p.T119S 11:102114178-102114178 18
20 COSM143037036 YAP1 breast,NS,carcinoma,lobular carcinoma c.1126C>T p.Q376* 11:102223703-102223703 18
21 COSM97252932 XRCC2 stomach,NS,carcinoma,adenocarcinoma c.140A>G p.H47R 7:152649345-152649345 18
22 COSM101975785 XPO1 stomach,NS,carcinoma,adenocarcinoma c.479G>A p.S160N 2:61499824-61499824 18
23 COSM101979646 XPO1 breast,NS,carcinoma,lobular carcinoma c.1160C>G p.S387C 2:61493979-61493979 18
24 COSM101978786 XPO1 stomach,NS,carcinoma,adenocarcinoma c.1249C>T p.R417C 2:61493050-61493050 18
25 COSM101977484 XPO1 stomach,NS,carcinoma,adenocarcinoma c.382G>A p.G128R 2:61502022-61502022 18
26 COSM101978758 XPO1 stomach,NS,carcinoma,adenocarcinoma c.781C>T p.R261* 2:61496986-61496986 18
27 COSM101981526 XPO1 breast,NS,carcinoma,lobular carcinoma c.2260G>T p.E754* 2:61488218-61488218 18
28 COSM101978769 XPO1 stomach,NS,carcinoma,adenocarcinoma c.3154C>T p.R1052C 2:61478882-61478882 18
29 COSM94288275 XIAP breast,NS,carcinoma,lobular carcinoma c.1240C>G p.L414V 23:123900633-123900633 18
30 COSM91376043 WT1 stomach,NS,carcinoma,adenocarcinoma c.1399A>T p.K467* 11:32392005-32392005 18
31 COSM91380538 WT1 stomach,NS,carcinoma,adenocarcinoma c.326C>T p.A109V 11:32435020-32435020 18
32 COSM91376032 WT1 stomach,NS,carcinoma,adenocarcinoma c.1403C>T p.T468I 11:32392001-32392001 18
33 COSM91376050 WT1 stomach,NS,carcinoma,adenocarcinoma c.1392C>G p.D464E 11:32392012-32392012 18
34 COSM91376024 WT1 stomach,NS,carcinoma,adenocarcinoma c.1405C>T p.H469Y 11:32391999-32391999 18
35 COSM91376062 WT1 stomach,NS,carcinoma,adenocarcinoma c.1376A>T p.K459M 11:32392028-32392028 18
36 COSM91373352 WT1 stomach,NS,carcinoma,adenocarcinoma c.1165C>T p.R389C 11:32396341-32396341 18
37 COSM91376084 WT1 stomach,NS,carcinoma,adenocarcinoma c.1403C>G p.T468S 11:32392001-32392001 18
38 COSM91365621 WT1 stomach,NS,carcinoma,adenocarcinoma c.1502G>A p.R501H 11:32389110-32389110 18
39 COSM91376004 WT1 stomach,NS,carcinoma,adenocarcinoma c.991G>A p.G331R 11:32416500-32416500 18
40 COSM92011980 WNK1 breast,NS,carcinoma,lobular carcinoma c.1255G>C p.E419Q 12:830104-830104 18
41 COSM92011987 WNK1 breast,NS,carcinoma,lobular carcinoma c.7325C>G p.S2442C 12:900596-900596 18
42 COSM101789719 WEE2 stomach,NS,carcinoma,adenocarcinoma c.996C>G p.N332K 7:141723249-141723249 18
43 COSM88292485 VHL breast,NS,carcinoma,lobular carcinoma c.241C>T p.P81S 3:10142088-10142088 18
44 COSM88303015 VHL breast,NS,carcinoma,lobular carcinoma c.562C>G p.L188V 3:10149885-10149885 18
45 COSM83992324 USP28 breast,NS,carcinoma,lobular carcinoma c.2050G>A p.D684N 11:113809177-113809177 18
46 COSM88718278 USH2A stomach,NS,carcinoma,adenocarcinoma c.11927C>T p.T3976M 1:215728169-215728169 18
47 COSM88706690 USH2A stomach,NS,carcinoma,adenocarcinoma c.8488A>T p.I2830F 1:215878834-215878834 18
48 COSM88730784 USH2A stomach,NS,carcinoma,adenocarcinoma c.11815G>A p.E3939K 1:215728281-215728281 18
49 COSM88763597 USH2A stomach,NS,carcinoma,adenocarcinoma c.140A>T p.K47M 1:216422197-216422197 18
50 COSM88760265 USH2A stomach,NS,carcinoma,adenocarcinoma c.11734G>A p.E3912K 1:215728362-215728362 18

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

7
# CNVD ID Chromosome 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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 KRAS IL1B CTNNA1 CDH1
2 12.41 MAP3K6 KRAS IL1B
3
Show member pathways
12.38 KRAS CTNNA1 CDH1
4
Show member pathways
12.33 KRAS CTNNA1 CDH1
5
Show member pathways
12.25 MAP3K6 KRAS IL1B
6
Show member pathways
12.07 KRAS CTNNA1 CDH1
7
Show member pathways
12 KRAS IL1RN IL1B
8 11.9 MAP3K6 CTNNA1 CDH1
9 11.46 IL1B CDH1
10 11.45 KRAS CDH1
11 11.44 CTNNA1 CDH1
12 11.41 IL1RN IL1B
13 11.4 CTNNA1 CDH1
14 11.18 IL1RN IL1B
15 11.1 CTNNA1 CDH1
16 11.03 CTNNA1 CDH1
17 11.01 CTNNA1 CDH1
18 10.78 CTNNA1 CDH1
19 10.55 CTNNA1 CDH1
20 10.23 CTNNA1 CDH1
21 9.74 CTNNA1 CDH1

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 CTNNA1 CDH1
2 flotillin complex GO:0016600 8.62 CTNNA1 CDH1

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

# Name GO ID Score Top Affiliating Genes
1 response to glucocorticoid GO:0051384 9.37 KRAS IL1RN
2 positive regulation of interleukin-6 production GO:0032755 9.32 IL1RN IL1B
3 adherens junction organization GO:0034332 9.26 CTNNA1 CDH1
4 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.16 IL1B CTNNA1
5 cytokine-mediated signaling pathway GO:0019221 9.13 KRAS IL1RN IL1B
6 cellular response to indole-3-methanol GO:0071681 8.62 CTNNA1 CDH1

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

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

Sources for Gastric Cancer, Hereditary Diffuse

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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