HDGC
MCID: GST103
MIFTS: 68

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 20 37
Hereditary Diffuse Gastric Cancer 12 25 20 43 58 72 29 6 15 70
Hdgc 57 25 20 43 58 72
Hereditary Diffuse Gastric Adenocarcinoma 20 43 58
Familial Diffuse Gastric Cancer 20 43 58
Fdgc 20 43 58
Hereditary Diffuse Cancer of Stomach 20 58
Familial Diffuse Cancer of Stomach 20 58
Gastric Cancer, Familial Diffuse 57 20
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 57
Gastric Cancer Familial Diffuse and Cleft Lip with or Without Cleft Palate 72
E-Cadherin-Associated Hereditary Gastric Cancer 43
Gastric Cancer Risk After H. Pylori Infection 57
Gastric Cancer, Hereditary Diffuse; Hdgc 57
Cancer, Gastric, Hereditary Diffuse 39
Gastric Cancer Familial Diffuse 72
Gastric Cancer, Somatic 57
Breast Cancer, Lobular 72
Lbc 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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:

25
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:

Disease Ontology 12 DOID:0080764
OMIM® 57 137215
ICD10 via Orphanet 33 C16.9
UMLS via Orphanet 71 C1708349
Orphanet 58 ORPHA26106
UMLS 70 C1708349

Summaries for Gastric Cancer, Hereditary Diffuse

MedlinePlus Genetics : 43 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 breast cancer and signet ring cell adenocarcinoma, 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 Regulation of TP53 Activity and Endometrial cancer. Affiliated tissues include breast, colon and liver, and related phenotypes are cleft palate and cleft upper lip

Disease Ontology : 12 A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes.

GARD : 20 Hereditary diffuse gastric cancer (HDGC) leads to an increased risk (predisposition) 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 earlier ages than those seen in people who do not have a hereditary predisposition to cancer. HDGC is caused by genetic variants in the CDH1 gene and the CTNNA1 gene. It is inherited in an autosomal dominant pattern. Diagnosis of HDGC is based on the symptoms, family history, and may be confirmed by the results of genetic testing. Treatment is focused on reducing the risk to develop cancer and includes increased screening for gastric cancer ( endoscopy ) and breast cancer in women ( mammography ). In some cases, surgery is done to remove the stomach before cancer develops ( prophylactic surgery).

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 190)
# Related Disease Score Top Affiliating Genes
1 breast cancer 31.8 STK11 RAD51D RAD51C PMS2 PALB2 MSH6
2 signet ring cell adenocarcinoma 31.6 MSH2 MLH1 KRAS CDH1
3 gastric cancer 31.4 MSH6 MSH2 MLH1 KRAS IL1RN IL1B
4 diffuse gastric cancer 31.3 PALB2 KRAS IL1RN IL1B CTNNA1 CDH1
5 gastric adenocarcinoma 31.1 MLH1 KRAS CDH17 CDH1
6 in situ carcinoma 30.8 CDH1 BRCA2 BRCA1
7 blepharocheilodontic syndrome 1 30.7 MAP3K6 CTNNA1 CDH1
8 adenocarcinoma 30.5 STK11 MSH6 MSH2 MLH1 KRAS CDH1
9 ataxia-telangiectasia 30.4 STK11 CHEK2 BRCA2 BRCA1
10 colorectal adenocarcinoma 30.4 PMS2 MSH6 MSH2 MLH1 KRAS CDH1
11 endometrial adenocarcinoma 30.3 MLH1 KRAS CDH1
12 hereditary breast ovarian cancer syndrome 29.8 STK11 RAD51D RAD51C PMS2 PALB2 MSH6
13 li-fraumeni syndrome 29.5 STK11 RAD51D RAD51C PMS2 PALB2 MSH6
14 fallopian tube clear cell adenocarcinoma 10.5 BRCA2 BRCA1
15 ovary transitional cell carcinoma 10.5 BRCA2 BRCA1
16 basaloid lung carcinoma 10.5 BRCA2 BRCA1
17 spindle cell intraocular melanoma 10.5 PMS2 MLH1
18 cancerophobia 10.5 BRCA2 BRCA1
19 nosophobia 10.4 BRCA2 BRCA1
20 endosalpingiosis 10.4 KRAS BRCA2 BRCA1
21 colorectal cancer 2 10.4 MSH2 MLH1
22 silent pituitary adenoma 10.4 MSH6 MSH2
23 ascending colon cancer 10.4 MSH2 MLH1 KRAS
24 transverse colon cancer 10.4 PMS2 MLH1 KRAS
25 vulvar vestibulitis syndrome 10.4 IL1RN IL1B
26 tetraploidy 10.4 BRCA2 BRCA1
27 bap1 tumor predisposition syndrome 10.4 PMS2 PALB2 BRCA2
28 familial ovarian cancer 10.4 RAD51C BRCA2 BRCA1
29 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.4 BRCA2 BRCA1
30 papillary serous adenocarcinoma 10.4 KRAS BRCA2 BRCA1
31 ruvalcaba syndrome 10.4 BRCA2 BRCA1
32 ovarian serous carcinoma 10.4 KRAS CDH1 BRCA1
33 thoracic benign neoplasm 10.4 CDH1 BRCA2 BRCA1
34 breast benign neoplasm 10.4 CDH1 BRCA2 BRCA1
35 renal pelvis transitional cell carcinoma 10.4 MSH6 MSH2 MLH1
36 rectum signet ring adenocarcinoma 10.4 PMS2 MSH2 MLH1
37 endometrioid ovary carcinoma 10.4 MSH6 MLH1 KRAS
38 ovarian cystadenocarcinoma 10.4 KRAS BRCA2 BRCA1
39 autosomal dominant non-syndromic intellectual disability 8 10.4 MSH6 MSH2 MLH1
40 melanocytic nevus syndrome, congenital 10.4 STK11 MSH2 MLH1
41 rectosigmoid cancer 10.4 PMS2 MSH6 KRAS
42 fanconi anemia, complementation group n 10.4 RAD51C PALB2 BRCA2
43 b-lymphoblastic leukemia/lymphoma with t 10.4 PALB2 MSH6
44 uterine body mixed cancer 10.4 MSH6 MLH1 KRAS
45 papillary adenocarcinoma 10.4 CDH1 BRCA2 BRCA1
46 lobular neoplasia 10.4 CTNNA1 CDH1 BRCA2 BRCA1
47 jejunal adenocarcinoma 10.4 PMS2 MSH6 MLH1
48 esophagus sarcoma 10.4 PMS2 MSH6 MSH2
49 ovary adenocarcinoma 10.4 KRAS CDH1 BRCA2 BRCA1
50 pre-malignant neoplasm 10.4 KRAS CDH1 BRCA2 BRCA1

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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Gastric Cancer, Hereditary Diffuse:


dyspepsia

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

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.78 KRAS
2 Decreased viability GR00055-A-2 10.78 KRAS
3 Decreased viability GR00055-A-3 10.78 KRAS
4 Decreased viability GR00106-A-0 10.78 KRAS
5 Decreased viability GR00221-A-1 10.78 CDH1 KRAS MAP3K6
6 Decreased viability GR00221-A-2 10.78 BRCA1 CHEK2 KRAS MAP3K6
7 Decreased viability GR00221-A-3 10.78 BRCA1 CHEK2
8 Decreased viability GR00221-A-4 10.78 CHEK2
9 Decreased viability GR00240-S-1 10.78 PALB2 STK11
10 Decreased viability GR00249-S 10.78 BARD1 BRCA2 IL1B MSH6 RAD51D
11 Decreased viability GR00301-A 10.78 BRCA1 CDH1 KRAS MSH2
12 Decreased viability GR00342-S-2 10.78 CHEK2
13 Decreased viability GR00381-A-1 10.78 CTNNA1 KRAS
14 Decreased viability GR00381-A-3 10.78 CTNNA1
15 Decreased viability GR00386-A-1 10.78 FBXO24 IL1B IL1RN MLH1 STK11
16 Decreased viability GR00402-S-2 10.78 CDH1 MAP3K6 PALB2
17 Decreased homologous recombination repair frequency GR00151-A-1 10.28 BARD1 BRCA1
18 Decreased homologous recombination repair frequency GR00151-A-2 10.28 BRCA1
19 Decreased homologous recombination repair frequency GR00236-A-1 10.28 BARD1 BRCA1 BRCA2 PALB2
20 Decreased homologous recombination repair frequency GR00236-A-2 10.28 BARD1 BRCA1 BRCA2 PALB2
21 Decreased homologous recombination repair frequency GR00236-A-3 10.28 BARD1 BRCA1 BRCA2 PALB2
22 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.23 BARD1 BRCA1 BRCA2 IL1B MLH1 PALB2
23 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.23 BRCA1 BRCA2 IL1B MLH1 PALB2 STK11
24 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.23 BARD1 BRCA1 BRCA2 CHEK2 MLH1 RAD51D
25 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.13 BARD1 CHEK2 RAD51D
26 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.13 BARD1 BRCA1 CHEK2 IL1B PALB2 RAD51D
27 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.13 BARD1 BRCA1 BRCA2 MLH1 PALB2 RAD51D
28 Decreased viability with cisplatin GR00101-A-4 9.5 BARD1 BRCA1 BRCA2
29 Synthetic lethal with cisplatin GR00101-A-1 9.33 BARD1 BRCA1 BRCA2
30 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 BARD1 BRCA1 BRCA2 CTNNA1 MSH2 RAD51D

MGI Mouse Phenotypes related to Gastric Cancer, Hereditary Diffuse:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.4 BARD1 BRCA1 BRCA2 CDH1 CHEK2 CTNNA1
2 homeostasis/metabolism MP:0005376 10.24 BARD1 BRCA1 BRCA2 CDH1 CHEK2 IL1B
3 hematopoietic system MP:0005397 10.18 BRCA1 BRCA2 CDH17 CHEK2 IL1B IL1RN
4 endocrine/exocrine gland MP:0005379 10.17 BARD1 BRCA1 BRCA2 CDH1 CHEK2 CTNNA1
5 embryo MP:0005380 10.16 BARD1 BRCA1 BRCA2 CDH1 CTNNA1 KRAS
6 digestive/alimentary MP:0005381 10.13 BRCA1 BRCA2 CDH1 CDH17 KRAS MLH1
7 immune system MP:0005387 10.13 BRCA1 BRCA2 CDH1 CDH17 CHEK2 IL1B
8 mortality/aging MP:0010768 10.09 BARD1 BRCA1 BRCA2 CDH1 CHEK2 CTNNA1
9 integument MP:0010771 10.07 BRCA1 BRCA2 CDH1 CTNNA1 IL1B IL1RN
10 neoplasm MP:0002006 9.83 BARD1 BRCA1 BRCA2 CDH1 CHEK2 CTNNA1
11 reproductive system MP:0005389 9.36 BARD1 BRCA1 BRCA2 CDH1 CHEK2 IL1RN

Drugs & Therapeutics for Gastric Cancer, Hereditary Diffuse

Interventional clinical trials:


# 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 Terminated NCT03648879 Phase 2
2 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
3 Liquid Biopsies (Blood, Gastric Fluid) for the Personalized Management of Patients With Hereditary Diffuse Gastric Cancer: a Pilot Project Recruiting NCT04253106
4 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 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, Liver, Prostate, Small Intestine, Eye, Lung

Publications for Gastric Cancer, Hereditary Diffuse

Articles related to Gastric Cancer, Hereditary Diffuse:

(show top 50) (show all 475)
# Title Authors PMID Year
1
Germline CDH1 deletions in hereditary diffuse gastric cancer families. 61 6 25 57
19168852 2009
2
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. 6 61 25 57
15831593 2006
3
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. 57 6 61 25
15235021 2004
4
Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. 61 25 57 6
11968083 2002
5
Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. 25 61 6 57
10973239 2000
6
Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. 57 25 6
10072428 1999
7
Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. 57 25 6
9751616 1998
8
E-cadherin germline mutations in familial gastric cancer. 25 57 6
9537325 1998
9
Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. 6 57 61
11419427 2001
10
E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. 61 6 57
10477433 1999
11
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. 61 25 6
28688938 2018
12
Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients. 25 61 6
27995193 2016
13
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. 57 61 25
25979631 2015
14
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 25 6 61
26182300 2015
15
Hereditary diffuse gastric cancer in a Japanese family with a large deletion involving CDH1. 25 6 61
24037103 2014
16
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. 6 57
23709761 2013
17
De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer. 25 6 61
21696387 2012
18
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. 57 61 25
20591882 2010
19
Germline E-cadherin mutations in familial lobular breast cancer. 61 6 25
17660459 2007
20
[Hereditary diffuse gastric cancer (HDGC): presentation of a family with a new mutation of the CDH1 gene]. 61 6 25
17955726 2007
21
CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. 61 6 25
17522512 2007
22
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. 6 61 25
17545690 2007
23
Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. 61 25 6
17221870 2007
24
Hereditary diffuse gastric cancer: diagnosis and management. 6 61 25
16527687 2006
25
Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. 25 6 61
16061854 2005
26
E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients. 61 25 6
15288293 2004
27
Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. 6 25 61
15138207 2004
28
Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands. 61 25 6
12588804 2003
29
Genetic screening for hereditary diffuse gastric cancer. 6 25 61
12647996 2003
30
Novel germline CDH1 mutations in hereditary diffuse gastric cancer families. 61 25 6
11968084 2002
31
Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? 6 57
11443625 2001
32
E-cadherin mutation-based genetic counseling and hereditary diffuse gastric carcinoma. 6 57
11104024 2000
33
Familial gastric cancer: overview and guidelines for management. 61 57 25
10593993 1999
34
FAMILIAL GASTRIC CANCER. 57 6
14158754 1964
35
Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. 25 6
11948460 2002
36
E-cadherin gene mutations provide clues to diffuse type gastric carcinomas. 25 6
8033105 1994
37
E-cadherin gene mutations in human gastric carcinoma cell lines. 25 6
8127895 1994
38
Endoscopic Ultrasound Has Limited Utility in Diagnosis of Gastric Cancer in Carriers of CDH1 Mutations. 6 61
31077828 2020
39
Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria. 61 6
31296550 2019
40
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC). 61 6
30745422 2019
41
Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori. 61 6
29589180 2019
42
Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer. 61 6
29769627 2018
43
Therapeutic and prophylactic gastrectomy in a family with hereditary diffuse gastric cancer secondary to a CDH1 mutation: a case series. 6 61
30007404 2018
44
Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease. 6 61
29454568 2018
45
Histologic and immunohistochemical differences between hereditary and sporadic diffuse gastric carcinoma. 61 6
29307626 2018
46
A new mutation of the CDH1 gene in a patient with an aggressive signet-ring cell carcinoma of the stomach. 6 61
29131691 2018
47
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. 6 61
28301459 2017
48
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. 6 61
28460635 2017
49
Roles for E-cadherin cell surface regulation in cancer. 61 6
27582386 2016
50
CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS). 6 61
27192129 2016

Variations for Gastric Cancer, Hereditary Diffuse

ClinVar genetic disease variations for Gastric Cancer, Hereditary Diffuse:

6 (show top 50) (show all 1673)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDH1 NM_004360.5(CDH1):c.2100del (p.Val701fs) Deletion Pathogenic 492677 rs1555517136 GRCh37: 16:68857465-68857465
GRCh38: 16:68823562-68823562
2 CDH1 NM_004360.5(CDH1):c.1A>G (p.Met1Val) SNV Pathogenic 532457 rs1555509622 GRCh37: 16:68771319-68771319
GRCh38: 16:68737416-68737416
3 CDH1 NM_004360.5(CDH1):c.2T>G (p.Met1Arg) SNV Pathogenic 532474 rs1555509623 GRCh37: 16:68771320-68771320
GRCh38: 16:68737417-68737417
4 CDH1 NM_004360.5(CDH1):c.2265T>A (p.Tyr755Ter) SNV Pathogenic 599653 rs876658944 GRCh37: 16:68862177-68862177
GRCh38: 16:68828274-68828274
5 CDH1 NC_000016.10:g.(?_68828164)_(68833499_?)del Deletion Pathogenic 830867 GRCh37: 16:68862067-68867402
GRCh38:
6 CDH1 NC_000016.10:g.(?_68801660)_(68833499_?)del Deletion Pathogenic 830936 GRCh37: 16:68835563-68867402
GRCh38:
7 CDH1 NC_000016.10:g.(?_68737416)_(68787043_?)del Deletion Pathogenic 831158 GRCh37: 16:68771319-68820946
GRCh38:
8 CDH1 NC_000016.10:g.(?_68808414)_(68829807_?)del Deletion Pathogenic 831463 GRCh37: 16:68842317-68863710
GRCh38:
9 CDH1 NC_000016.10:g.(?_68737416)_(68738421_?)del Deletion Pathogenic 830577 GRCh37: 16:68771319-68772324
GRCh38:
10 CDH1 NM_004360.5(CDH1):c.283C>T (p.Gln95Ter) SNV Pathogenic 463775 rs781409616 GRCh37: 16:68835692-68835692
GRCh38: 16:68801789-68801789
11 CDH1 NC_000016.9:g.(?_68842321)_(68867407_?)del Deletion Pathogenic 463689 GRCh37: 16:68842321-68867407
GRCh38:
12 CDH1 NM_004360.5(CDH1):c.1612del (p.Asp538fs) Deletion Pathogenic 437928 rs1555516545 GRCh37: 16:68853228-68853228
GRCh38: 16:68819325-68819325
13 CDH1 NM_004360.5(CDH1):c.49-2A>G SNV Pathogenic 406631 rs1060501226 GRCh37: 16:68772198-68772198
GRCh38: 16:68738295-68738295
14 CDH1 NM_004360.4(CDH1):c.1220delC Deletion Pathogenic 224789 rs886037822 GRCh37: 16:68847295-68847295
GRCh38: 16:68813392-68813392
15 CDH1 NM_004360.5(CDH1):c.504del (p.Gly169fs) Deletion Pathogenic 220776 rs864622655 GRCh37: 16:68842439-68842439
GRCh38: 16:68808536-68808536
16 CDH1 NM_004360.5(CDH1):c.1023T>G (p.Tyr341Ter) SNV Pathogenic 156374 rs587776398 GRCh37: 16:68846052-68846052
GRCh38: 16:68812149-68812149
17 CDH1 CDH1, 828-BP DEL AND 3-BP INS, EX16 Indel Pathogenic 12252 GRCh37:
GRCh38:
18 CDH1 nsv513771 Deletion Pathogenic 12251 GRCh37:
GRCh38:
19 CDH1 CDH1, 1-BP INS, 1588C Insertion Pathogenic 12243 GRCh37:
GRCh38:
20 CDH1 CDH1, 1-BP INS, 1711G Insertion Pathogenic 12242 GRCh37:
GRCh38:
21 CDH1 NM_004360.5(CDH1):c.70G>T (p.Glu24Ter) SNV Pathogenic 12240 rs121964876 GRCh37: 16:68772221-68772221
GRCh38: 16:68738318-68738318
22 CDH1 CDH1, IVS1AS, A-G, -2 SNV Pathogenic 12238 GRCh37:
GRCh38:
23 CDH1 NC_000016.10:g.(?_68828164)_(68828314_?)del Deletion Pathogenic 831505 GRCh37: 16:68862067-68862217
GRCh38:
24 CDH1 NC_000016.10:g.(?_68828164)_(68829807_?)del Deletion Pathogenic 832262 GRCh37: 16:68862067-68863710
GRCh38:
25 CDH1 NC_000016.10:g.(?_68787043)_(68833499_?)del Deletion Pathogenic 832497 GRCh37: 16:68820946-68867402
GRCh38:
26 CDH1 NC_000016.10:g.(?_68787043)_(68801903_?)del Deletion Pathogenic 833013 GRCh37: 16:68820946-68835806
GRCh38:
27 CDH1 NM_004360.5(CDH1):c.1962_1971del (p.Pro654_Lys655insTer) Deletion Pathogenic 834985 GRCh37: 16:68857324-68857333
GRCh38: 16:68823421-68823430
28 CDH1 NM_004360.5(CDH1):c.1779del (p.Ile594fs) Deletion Pathogenic 838745 GRCh37: 16:68855967-68855967
GRCh38: 16:68822064-68822064
29 CDH1 NC_000016.10:g.(?_68737416)_(68833499_?)del Deletion Pathogenic 832681 GRCh37: 16:68771319-68867402
GRCh38:
30 CDH1 NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter) SNV Pathogenic 847107 GRCh37: 16:68856106-68856106
GRCh38: 16:68822203-68822203
31 CDH1 NM_004360.5(CDH1):c.325_326del (p.Lys109fs) Deletion Pathogenic 850495 GRCh37: 16:68835733-68835734
GRCh38: 16:68801830-68801831
32 CDH1 NM_004360.5(CDH1):c.1189A>T (p.Lys397Ter) SNV Pathogenic 853061 GRCh37: 16:68847267-68847267
GRCh38: 16:68813364-68813364
33 CDH1 NM_004360.5(CDH1):c.800_810del (p.Phe267fs) Deletion Pathogenic 856609 GRCh37: 16:68844207-68844217
GRCh38: 16:68810304-68810314
34 CDH1 NM_004360.5(CDH1):c.1418del (p.Val473fs) Deletion Pathogenic 862003 GRCh37: 16:68849515-68849515
GRCh38: 16:68815612-68815612
35 CDH1 NM_004360.5(CDH1):c.1227G>A (p.Trp409Ter) SNV Pathogenic 849317 GRCh37: 16:68847305-68847305
GRCh38: 16:68813402-68813402
36 CDH1 NM_004360.5(CDH1):c.531+2T>A SNV Pathogenic 12248 rs1597890755 GRCh37: 16:68842472-68842472
GRCh38: 16:68808569-68808569
37 CDH1 NM_004360.5(CDH1):c.1212del (p.Asn405fs) Deletion Pathogenic 642531 rs1597895871 GRCh37: 16:68847286-68847286
GRCh38: 16:68813383-68813383
38 CDH1 NM_004360.5(CDH1):c.1982del (p.Gly661fs) Deletion Pathogenic 662412 rs1596965628 GRCh37: 16:68857345-68857345
GRCh38: 16:68823442-68823442
39 CDH1 NM_004360.5(CDH1):c.2474del (p.Pro825fs) Deletion Pathogenic 656340 rs1555518221 GRCh37: 16:68867224-68867224
GRCh38: 16:68833321-68833321
40 CDH1 NM_004360.5(CDH1):c.631del (p.Thr211fs) Deletion Pathogenic 655128 rs1597891145 GRCh37: 16:68842693-68842693
GRCh38: 16:68808790-68808790
41 CDH1 NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) SNV Pathogenic 12237 rs121964874 GRCh37: 16:68857460-68857460
GRCh38: 16:68823557-68823557
42 CDH1 NM_004360.5(CDH1):c.360del (p.His121fs) Deletion Pathogenic 818202 rs878854690 GRCh37: 16:68835766-68835766
GRCh38: 16:68801863-68801863
43 CDH1 NM_004360.5(CDH1):c.2116del (p.Gln706fs) Deletion Pathogenic 936809 GRCh37: 16:68857481-68857481
GRCh38: 16:68823578-68823578
44 CDH1 NM_004360.5(CDH1):c.1373del (p.Asn458fs) Deletion Pathogenic 941040 GRCh37: 16:68849469-68849469
GRCh38: 16:68815566-68815566
45 CDH1 NM_004360.5(CDH1):c.82del (p.Cys28fs) Deletion Pathogenic 945113 GRCh37: 16:68772233-68772233
GRCh38: 16:68738330-68738330
46 CDH1 NM_004360.5(CDH1):c.2018del (p.Gln673fs) Deletion Pathogenic 945353 GRCh37: 16:68857383-68857383
GRCh38: 16:68823480-68823480
47 CDH1 NM_004360.5(CDH1):c.67C>T (p.Gln23Ter) SNV Pathogenic 946040 GRCh37: 16:68772218-68772218
GRCh38: 16:68738315-68738315
48 CDH1 NM_004360.5(CDH1):c.888C>A (p.Tyr296Ter) SNV Pathogenic 958856 GRCh37: 16:68845642-68845642
GRCh38: 16:68811739-68811739
49 CDH1 NM_004360.5(CDH1):c.832+1G>T SNV Pathogenic 239914 rs878854697 GRCh37: 16:68844245-68844245
GRCh38: 16:68810342-68810342
50 CDH1 NM_004360.5(CDH1):c.2387_2406del (p.Arg796fs) Deletion Pathogenic 532446 rs1555517889 GRCh37: 16:68863646-68863665
GRCh38: 16:68829743-68829762

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

72
# 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 COSM131486960 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.1159G>A p.A387T 18:25226759-25226759 18
4 COSM140706619 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.499G>A p.A167T 18:25226759-25226759 18
5 COSM94777296 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.2285G>A p.R762H 18:25225633-25225633 18
6 COSM131495211 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.443G>A p.C148Y 18:25227475-25227475 18
7 COSM140704933 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.1625G>A p.R542H 18:25225633-25225633 18
8 COSM94795709 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.3434T>G p.V1145G 18:25224484-25224484 18
9 COSM94788727 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.443G>A p.C148Y 18:25227475-25227475 18
10 COSM140712668 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.-218G>A p.? 18:25227475-25227475 18
11 COSM131483683 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.2285G>A p.R762H 18:25225633-25225633 18
12 COSM131502188 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.3434T>G p.V1145G 18:25224484-25224484 18
13 COSM140717636 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.2774T>G p.V925G 18:25224484-25224484 18
14 COSM89892679 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.1136G>A p.R379Q 12:6669044-6669044 18
15 COSM99686061 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.1319G>A p.R440Q 12:6669044-6669044 18
16 COSM96892872 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.1319G>A p.R440Q 12:6669044-6669044 18
17 COSM92495186 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.971G>A p.R324Q 12:6669044-6669044 18
18 COSM90523509 ZNF341 stomach,NS,carcinoma,adenocarcinoma c.2512G>A p.A838T 20:33791485-33791485 18
19 COSM98293254 ZNF341 stomach,NS,carcinoma,adenocarcinoma c.2533G>A p.A845T 20:33791485-33791485 18
20 COSM84509305 ZNF276 stomach,NS,carcinoma,adenocarcinoma c.*677T>G p.? 16:89738923-89738923 18
21 COSM87279654 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.4556C>G p.S1519* 16:72798126-72798126 18
22 COSM149285883 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.4556C>G p.S1519* 16:72798126-72798126 18
23 COSM149315898 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.7262C>G p.S2421* 16:72795420-72795420 18
24 COSM102029000 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.1814C>G p.S605* 16:72798126-72798126 18
25 COSM102042239 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.5456G>T p.R1819L 16:72794484-72794484 18
26 COSM102040958 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.4520C>G p.S1507* 16:72795420-72795420 18
27 COSM102023834 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.6478C>T p.Q2160* 16:72793462-72793462 18
28 COSM149270832 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.9220C>T p.Q3074* 16:72793462-72793462 18
29 COSM87290679 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.7262C>G p.S2421* 16:72795420-72795420 18
30 COSM149288723 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1081G>A p.G361R 16:72959065-72959065 18
31 COSM149261321 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1858C>T p.H620Y 16:72958288-72958288 18
32 COSM87274898 ZFHX3 breast,NS,carcinoma,lobular carcinoma c.9220C>T p.Q3074* 16:72793462-72793462 18
33 COSM102020152 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.-23-7323C>T p.? 16:72958288-72958288 18
34 COSM87271088 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1858C>T p.H620Y 16:72958288-72958288 18
35 COSM87290698 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.795C>A p.D265E 16:72959351-72959351 18
36 COSM87291716 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.4553G>T p.G1518V 16:72798129-72798129 18
37 COSM149332052 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.5929G>C p.G1977R 16:72796753-72796753 18
38 COSM87280547 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1081G>A p.G361R 16:72959065-72959065 18
39 COSM102040971 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.-23-8386C>A p.? 16:72959351-72959351 18
40 COSM87291652 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.8198G>T p.R2733L 16:72794484-72794484 18
41 COSM87296752 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.5929G>C p.G1977R 16:72796753-72796753 18
42 COSM149318848 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.4553G>T p.G1518V 16:72798129-72798129 18
43 COSM149318790 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.8198G>T p.R2733L 16:72794484-72794484 18
44 COSM102042308 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1811G>T p.G604V 16:72798129-72798129 18
45 COSM149315912 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.795C>A p.D265E 16:72959351-72959351 18
46 COSM102048038 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.3187G>C p.G1063R 16:72796753-72796753 18
47 COSM89893344 YES1 stomach,NS,carcinoma,adenocarcinoma c.350G>A p.R117K 18:751726-751726 18
48 COSM136835352 YES1 stomach,NS,carcinoma,adenocarcinoma c.365G>A p.R122K 18:751726-751726 18
49 COSM152021882 YES1 stomach,NS,carcinoma,adenocarcinoma c.350G>A p.R117K 18:751726-751726 18
50 COSM136835751 YES1 breast,NS,carcinoma,lobular carcinoma c.1105G>C p.D369H 18:739782-739782 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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 STK11 RAD51D PMS2 MSH2 MLH1 CHEK2
2
Show member pathways
12.83 MSH6 MSH2 MLH1 KRAS CTNNA1 CDH1
3
Show member pathways
12.8 MSH6 MSH2 MLH1 MAP3K6 KRAS CHEK2
4 12.79 MSH6 MSH2 MLH1 KRAS CTNNA1 CDH1
5
Show member pathways
12.71 MLH1 KRAS CTNNA1 CDH17 CDH1 BRCA2
6
Show member pathways
12.7 RAD51D RAD51C PMS2 PALB2 MSH6 MSH2
7
Show member pathways
12.65 MSH6 MSH2 CHEK2 BRCA2 BRCA1 BARD1
8
Show member pathways
12.6 MSH6 KRAS CDH1 BRCA2 BRCA1
9 12.46 MSH6 MSH2 MLH1 CHEK2 BRCA2 BRCA1
10
Show member pathways
12.38 RAD51C MLH1 BRCA2 BRCA1
11 12.31 MAP3K6 CTNNA1 CDH17 CDH1
12
Show member pathways
12.21 RAD51D RAD51C PALB2 BRCA2 BRCA1 BARD1
13 12.16 MSH6 MSH2 MLH1 KRAS CDH1
14
Show member pathways
12.06 RAD51D RAD51C PALB2 BRCA2 BRCA1 BARD1
15
Show member pathways
11.85 PMS2 MSH6 MSH2 MLH1
16 11.72 MSH6 MSH2 MLH1 BRCA1
17 11.7 RAD51C PMS2 PALB2 MLH1 BRCA2 BRCA1
18
Show member pathways
11.55 MSH6 MSH2 CHEK2 BRCA2 BRCA1 BARD1
19 11.46 STK11 MSH6 MSH2 KRAS CHEK2 CDH1
20 11.41 CHEK2 BRCA1 BARD1
21
Show member pathways
11.4 MSH2 MLH1 CHEK2
22 11.38 MSH6 MSH2 CHEK2 BRCA1 BARD1
23 11.22 PMS2 MSH6 MSH2 MLH1
24 10.72 CTNNA1 CDH1

GO Terms for Gastric Cancer, Hereditary Diffuse

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.97 STK11 RAD51D RAD51C PMS2 PALB2 MSH6
2 chromosome, telomeric region GO:0000781 9.73 RAD51D MSH2 CHEK2 BRCA2
3 lateral element GO:0000800 9.51 BRCA2 BRCA1
4 chromosome GO:0005694 9.5 RAD51D RAD51C MSH6 MSH2 MLH1 BRCA2
5 BRCA1-A complex GO:0070531 9.49 BRCA1 BARD1
6 flotillin complex GO:0016600 9.48 CTNNA1 CDH1
7 MutLalpha complex GO:0032389 9.46 PMS2 MLH1
8 catenin complex GO:0016342 9.43 CTNNA1 CDH17 CDH1
9 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 9.4 RAD51D RAD51C
10 MutSalpha complex GO:0032301 9.37 MSH6 MSH2
11 BRCA1-BARD1 complex GO:0031436 9.32 BRCA1 BARD1
12 mismatch repair complex GO:0032300 8.92 PMS2 MSH6 MSH2 MLH1

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of signal transduction by p53 class mediator GO:1901796 9.87 STK11 CHEK2 BRCA1 BARD1
2 double-strand break repair GO:0006302 9.8 MSH2 CHEK2 BRCA2 BRCA1
3 double-strand break repair via nonhomologous end joining GO:0006303 9.79 MLH1 BRCA1 BARD1
4 double-strand break repair via homologous recombination GO:0000724 9.77 RAD51D RAD51C PALB2 BRCA2 BRCA1
5 mismatch repair GO:0006298 9.76 PMS2 MSH6 MSH2 MLH1
6 adherens junction organization GO:0034332 9.75 CTNNA1 CDH17 CDH1
7 reciprocal meiotic recombination GO:0007131 9.73 RAD51D RAD51C MLH1
8 DNA recombination GO:0006310 9.73 RAD51D RAD51C PALB2 MSH2 BRCA2 BRCA1
9 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.72 MSH2 CHEK2 BRCA2
10 isotype switching GO:0045190 9.7 MSH6 MSH2 MLH1
11 DNA repair GO:0006281 9.7 RAD51D RAD51C PMS2 PALB2 MSH6 MSH2
12 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.69 CHEK2 BRCA2 BRCA1
13 telomere maintenance via recombination GO:0000722 9.65 RAD51D RAD51C BRCA2
14 DNA double-strand break processing GO:0000729 9.64 BRCA1 BARD1
15 inner cell mass cell proliferation GO:0001833 9.63 PALB2 BRCA2
16 postreplication repair GO:0006301 9.63 MSH2 BRCA1
17 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.63 MSH6 MSH2 MLH1 CHEK2 BRCA2 BRCA1
18 protein K6-linked ubiquitination GO:0085020 9.62 BRCA1 BARD1
19 positive regulation of isotype switching to IgG isotypes GO:0048304 9.62 MSH2 MLH1
20 somatic hypermutation of immunoglobulin genes GO:0016446 9.62 PMS2 MSH6 MSH2 MLH1
21 positive regulation of helicase activity GO:0051096 9.61 MSH6 MSH2
22 cellular response to indole-3-methanol GO:0071681 9.61 CTNNA1 CDH1 BRCA1
23 positive regulation of isotype switching to IgA isotypes GO:0048298 9.6 MSH2 MLH1
24 maintenance of DNA repeat elements GO:0043570 9.59 MSH6 MSH2
25 chordate embryonic development GO:0043009 9.58 BRCA2 BRCA1
26 somatic recombination of immunoglobulin gene segments GO:0016447 9.58 MSH6 MSH2 MLH1
27 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.54 MSH2 MLH1
28 cellular response to DNA damage stimulus GO:0006974 9.4 STK11 RAD51D RAD51C PMS2 PALB2 MSH6

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.54 STK11 RAD51D RAD51C PMS2 PALB2 MSH6
2 nucleotide binding GO:0000166 10.11 STK11 RAD51D RAD51C MSH6 MSH2 MLH1
3 ATP binding GO:0005524 10.02 STK11 RAD51D RAD51C PMS2 MSH6 MSH2
4 ATPase activity GO:0016887 9.86 PMS2 MSH6 MSH2 MLH1
5 magnesium ion binding GO:0000287 9.85 STK11 MSH6 MSH2 MAP3K6
6 damaged DNA binding GO:0003684 9.71 MSH6 MSH2 BRCA1
7 single-stranded DNA binding GO:0003697 9.65 RAD51D PMS2 MSH2 MLH1 BRCA2
8 DNA-dependent ATPase activity GO:0008094 9.62 RAD51D RAD51C MSH6 MSH2
9 interleukin-1 receptor binding GO:0005149 9.58 IL1RN IL1B
10 gamma-catenin binding GO:0045295 9.58 CTNNA1 CDH1
11 MutSalpha complex binding GO:0032407 9.52 PMS2 MLH1
12 MutLalpha complex binding GO:0032405 9.51 MSH6 MSH2
13 oxidized purine DNA binding GO:0032357 9.49 MSH6 MSH2
14 LRR domain binding GO:0030275 9.48 STK11 KRAS
15 single guanine insertion binding GO:0032142 9.43 MSH6 MSH2
16 single thymine insertion binding GO:0032143 9.4 MSH6 MSH2
17 guanine/thymine mispair binding GO:0032137 9.33 MSH6 MSH2 MLH1
18 four-way junction DNA binding GO:0000400 9.26 RAD51D RAD51C MSH6 MSH2
19 mismatched DNA binding GO:0030983 8.92 PMS2 MSH6 MSH2 MLH1

Sources for Gastric Cancer, Hereditary Diffuse

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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