DGLBC
MCID: DFF043
MIFTS: 68

Diffuse Gastric and Lobular Breast Cancer Syndrome (DGLBC)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Diffuse Gastric and Lobular Breast Cancer Syndrome

MalaCards integrated aliases for Diffuse Gastric and Lobular Breast Cancer Syndrome:

Name: Diffuse Gastric and Lobular Breast Cancer Syndrome 57 36
Hereditary Diffuse Gastric Cancer 11 24 19 42 58 73 5 14 75
Hdgc 57 24 42 58 73
Gastric Cancer, Familial Diffuse, and Cleft Lip with or Without Cleft Palate 28 5
Hereditary Diffuse Gastric Adenocarcinoma 42 58
Familial Diffuse Gastric Cancer 42 58
Breast Cancer, Lobular 73 5
Fdgc 42 58
Lbc 57 73
Diffuse Gastric and Lobular Breast Cancer Syndrome with or Without Cleft Lip and/or Palate 57
Gastric Cancer Familial Diffuse and Cleft Lip with or Without Cleft Palate 73
Gastric Cancer, Familial Diffuse Breast Cancer, Lobular 57
E-Cadherin-Associated Hereditary Gastric Cancer 42
Hereditary Diffuse Cancer of Stomach 58
Cancer, Gastric, Hereditary Diffuse 38
Gastric Cancer, Hereditary Diffuse 57
Familial Diffuse Cancer of Stomach 58
Gastric Cancer Familial Diffuse 73
Dglbc 57

Characteristics:


Inheritance:

Diffuse Gastric and Lobular Breast Cancer Syndrome: Autosomal dominant 57
Hereditary Diffuse Gastric Cancer: Autosomal dominant 58

Age Of Onset:

Hereditary Diffuse Gastric Cancer: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
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


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:

Disease Ontology 11 DOID:0080764
OMIM® 57 137215
ICD10 via Orphanet 32 C16.9
UMLS via Orphanet 72 C1708349
Orphanet 58 ORPHA26106

Summaries for Diffuse Gastric and Lobular Breast Cancer Syndrome

MedlinePlus Genetics: 42 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: Diffuse Gastric and Lobular Breast Cancer Syndrome, also known as hereditary diffuse gastric cancer, is related to gastric cancer and gastric adenocarcinoma. An important gene associated with Diffuse Gastric and Lobular Breast Cancer Syndrome is CDH1 (Cadherin 1), and among its related pathways/superpathways are ERK Signaling and Disease. Affiliated tissues include breast, small intestine and colon, and related phenotypes are cleft palate and cleft upper lip

OMIM®: 57 Diffuse gastric cancer and lobular breast cancer syndrome (DGLBC) 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). DGLBC 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 08-Dec-2022)

GARD: 19 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.

UniProtKB/Swiss-Prot 73 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.

Breast cancer, lobular: A type of breast cancer that begins in the milk-producing glands (lobules) of the breast.

Orphanet: 58 Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, 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. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.

Disease Ontology: 11 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.

Wikipedia: 75 Hereditary diffuse gastric cancer (HDGC) is an inherited genetic syndrome most often caused by an... more...

GeneReviews: NBK1139

Related Diseases for Diffuse Gastric and Lobular Breast Cancer Syndrome

Diseases related to Diffuse Gastric and Lobular Breast Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 276)
# Related Disease Score Top Affiliating Genes
1 gastric cancer 31.9 TP53 STK11 PMS2 MUTYH MSH6 MSH2
2 gastric adenocarcinoma 31.0 TP53 MLH1 KRAS CDH17 CDH1
3 breast lobular carcinoma 30.7 TP53 PALB2 CTNND1 CDH17 CDH1 BRCA2
4 gastric diffuse adenocarcinoma 30.7 CTNNA1 CDH1
5 ataxia-telangiectasia 30.6 TP53 STK11 BRCA2 BRCA1 ATM
6 hereditary breast cancer 30.6 PALB2 CDH1 BRCA2 BRCA1
7 blepharocheilodontic syndrome 1 30.5 CTNND1 CTNNA1 CDH17 CDH1
8 linitis plastica 30.5 CTNNA1 CDH1
9 ductal carcinoma in situ 30.5 TP53 CDH1 BRCA2 BRCA1
10 nijmegen breakage syndrome 30.4 TP53 RAD51C BRCA2 BRCA1 ATM
11 adenocarcinoma 30.3 TP53 STK11 MSH6 MSH2 MLH1 KRAS
12 colorectal adenocarcinoma 30.3 TP53 PMS2 MSH6 MSH2 MLH1 KRAS
13 lobular neoplasia 30.3 TP53 PALB2 CTNND1 CTNNA1 CDH1 BRCA2
14 cholangiocarcinoma 30.2 TP53 KRAS CTNNA1 CDH1 BRCA2 BRCA1
15 signet ring cell adenocarcinoma 30.2 TP53 PMS2 MSH6 MSH2 MLH1 KRAS
16 endometrial adenocarcinoma 30.1 TP53 PMS2 MSH6 MSH2 MLH1 KRAS
17 inherited cancer-predisposing syndrome 30.0 TP53 STK11 RAD51C PMS2 PALB2 MUTYH
18 bap1 tumor predisposition syndrome 30.0 TP53 STK11 RAD51C PMS2 PALB2 MUTYH
19 breast cancer 29.8 TP53 STK11 RAD51C PMS2 PALB2 MUTYH
20 li-fraumeni syndrome 29.7 TP53 STK11 RAD51C PMS2 PALB2 MUTYH
21 hereditary breast ovarian cancer syndrome 29.6 TP53 STK11 RAD51C PMS2 PALB2 MUTYH
22 lynch syndrome 29.6 TP53 STK11 RAD51C PMS2 PALB2 MUTYH
23 pancreatic cancer 29.5 TP53 STK11 PALB2 MSH6 MSH2 MLH1
24 endometrial cancer 29.5 TP53 PMS2 MUTYH MSH6 MSH2 MLH1
25 diffuse gastric cancer 29.5 TP53 STK11 RAD51C PMS2 PALB2 MUTYH
26 hereditary gastric cancer 11.3
27 euryblepharon 10.5 CTNND1 CDH1
28 tumor predisposition syndrome 1 10.4 PALB2 BRCA2
29 ovary transitional cell carcinoma 10.4 BRCA2 BRCA1
30 cervical adenoma malignum 10.4 STK11 PALB2
31 carcinosarcoma 10.4 TP53 KRAS CDH1
32 spindle cell intraocular melanoma 10.4 PMS2 MLH1
33 cancerophobia 10.4 BRCA2 BRCA1
34 nosophobia 10.4 BRCA2 BRCA1
35 hereditary site-specific ovarian cancer syndrome 10.4 RAD51C BRCA2 BRCA1
36 fanconi anemia, complementation group n 10.4 PALB2 BRCA2 BRCA1
37 distichiasis 10.4 CTNND1 CDH1
38 breast-ovarian cancer, familial 2 10.4 BRCA2 BRCA1
39 tetraploidy 10.4 TP53 BRCA2
40 transverse colon cancer 10.4 PMS2 MLH1 KRAS
41 esophagus verrucous carcinoma 10.4 TP53 CDH1
42 vaginal carcinosarcoma 10.4 TP53 KRAS
43 basaloid lung carcinoma 10.4 TP53 BRCA2 BRCA1
44 cervical endometrioid adenocarcinoma 10.4 MSH6 MSH2
45 pseudomyxoma peritonei 10.4 TP53 KRAS CDH1
46 lynch syndrome 2 10.4 MLH1 BRCA2 BRCA1
47 myh-associated polyposis 10.4 MUTYH MSH2
48 respiratory system benign neoplasm 10.4 TP53 KRAS CDH1
49 rectum signet ring adenocarcinoma 10.4 PMS2 MSH2 MLH1
50 ovarian benign neoplasm 10.4 TP53 KRAS BRCA1

Graphical network of the top 20 diseases related to Diffuse Gastric and Lobular Breast Cancer Syndrome:



Diseases related to Diffuse Gastric and Lobular Breast Cancer Syndrome

Symptoms & Phenotypes for Diffuse Gastric and Lobular Breast Cancer Syndrome

Human phenotypes related to Diffuse Gastric and Lobular Breast Cancer Syndrome:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 30 Occasional (7.5%) HP:0000175
2 cleft upper lip 30 Occasional (7.5%) HP:0000204
3 stomach cancer 30 Very rare (1%) HP:0012126
4 atrophic gastritis 30 HP:0002582

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

GenomeRNAi Phenotypes related to Diffuse Gastric and Lobular Breast Cancer Syndrome according to GeneCards Suite gene sharing:

25 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.22 BRCA1 BRCA2 MLH1 PALB2 STK11
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.22 ATM BRCA1 BRCA2 MLH1 PALB2 STK11
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.22 ATM BRCA1 BRCA2 MLH1 TP53 MSH2
4 no effect GR00402-S-1 10.18 ATM B3GALT6 BRCA1 BRCA2 CDH1 CDH17
5 no effect GR00402-S-2 10.18 ATM B3GALT6 BRCA1 BRCA2 CDH17 CTNNA1
6 Decreased viability GR00055-A-1 10.13 KRAS
7 Decreased viability GR00055-A-2 10.13 KRAS
8 Decreased viability GR00055-A-3 10.13 KRAS
9 Decreased viability GR00106-A-0 10.13 KRAS
10 Decreased viability GR00221-A-1 10.13 CDH1 KRAS
11 Decreased viability GR00221-A-2 10.13 BRCA1 KRAS
12 Decreased viability GR00221-A-3 10.13 BRCA1
13 Decreased viability GR00301-A 10.13 BRCA1 CDH1 KRAS MSH2
14 Decreased viability GR00381-A-1 10.13 KRAS
15 Decreased viability GR00402-S-2 10.13 CDH1
16 Decreased viability after ionizing radiation GR00232-A-2 9.33 ATM BRCA1 BRCA2

MGI Mouse Phenotypes related to Diffuse Gastric and Lobular Breast Cancer Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 10.38 ATM BRCA1 BRCA2 CDH1 CTNNA1 CTNND1
2 homeostasis/metabolism MP:0005376 10.3 ATM BRCA1 BRCA2 CDH1 KRAS MAP3K6
3 cellular MP:0005384 10.22 ATM BRCA1 BRCA2 CDH1 CTNNA1 CTNND1
4 endocrine/exocrine gland MP:0005379 10.21 ATM BRCA1 BRCA2 CDH1 CTNNA1 CTNND1
5 digestive/alimentary MP:0005381 10.11 BRCA1 BRCA2 CDH1 CDH17 CTNND1 KRAS
6 embryo MP:0005380 10.1 ATM BRCA1 BRCA2 CDH1 CTNNA1 KRAS
7 immune system MP:0005387 10.03 ATM BRCA1 BRCA2 CDH1 CDH17 KRAS
8 mortality/aging MP:0010768 9.89 ATM B3GALT6 BRCA1 BRCA2 CDH1 CTNNA1
9 reproductive system MP:0005389 9.85 ATM BRCA1 BRCA2 CDH1 KRAS MLH1
10 integument MP:0010771 9.47 ATM BRCA1 BRCA2 CDH1 CTNNA1 CTNND1

Drugs & Therapeutics for Diffuse Gastric and Lobular Breast Cancer Syndrome

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 Completed 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 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
4 Liquid Biopsies (Blood, Gastric Fluid) for the Personalized Management of Patients With Hereditary Diffuse Gastric Cancer: a Pilot Project Recruiting NCT04253106
5 Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer Recruiting NCT03030404
6 Improving Well-Being for Individuals With Persistent Pain After Surgery for Breast Cancer, Lobular Carcinoma in Situ, or Ductal Carcinoma in Situ: A Randomized Clinical Trial That Compares Three Behavioral Intervention Strategies and Examines Psychological Factors as Drivers of the Continuing Burden of Persistent Pain Recruiting NCT04225585

Search NIH Clinical Center for Diffuse Gastric and Lobular Breast Cancer Syndrome

Cell-based therapeutics:


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

Genetic Tests for Diffuse Gastric and Lobular Breast Cancer Syndrome

Genetic tests related to Diffuse Gastric and Lobular Breast Cancer Syndrome:

# Genetic test Affiliating Genes
1 Gastric Cancer, Familial Diffuse, and Cleft Lip with or Without Cleft Palate 28

Anatomical Context for Diffuse Gastric and Lobular Breast Cancer Syndrome

Organs/tissues related to Diffuse Gastric and Lobular Breast Cancer Syndrome:

MalaCards : Breast, Small Intestine, Colon, Prostate, Liver, Skin, Heart

Publications for Diffuse Gastric and Lobular Breast Cancer Syndrome

Articles related to Diffuse Gastric and Lobular Breast Cancer Syndrome:

(show top 50) (show all 549)
# Title Authors PMID Year
1
Germline CDH1 deletions in hereditary diffuse gastric cancer families. 62 24 57 5
19168852 2009
2
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. 62 24 57 5
15831593 2006
3
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. 62 24 57 5
15235021 2004
4
Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. 62 24 57 5
11968083 2002
5
Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. 62 24 57 5
10973239 2000
6
Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. 62 24 57 5
9751616 1998
7
Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. 24 57 5
10072428 1999
8
E-cadherin germline mutations in familial gastric cancer. 24 57 5
9537325 1998
9
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. 62 57 5
23709761 2013
10
Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. 62 57 5
11419427 2001
11
E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. 62 57 5
10477433 1999
12
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. 62 24 5
28688938 2018
13
Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients. 62 24 5
27995193 2016
14
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. 62 24 57
25979631 2015
15
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 62 24 5
26182300 2015
16
De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer. 62 24 5
21696387 2012
17
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. 62 24 57
20591882 2010
18
Germline E-cadherin mutations in familial lobular breast cancer. 62 24 5
17660459 2007
19
[Hereditary diffuse gastric cancer (HDGC): presentation of a family with a new mutation of the CDH1 gene]. 62 24 5
17955726 2007
20
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. 62 24 5
17545690 2007
21
CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. 62 24 5
17522512 2007
22
Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. 62 24 5
17221870 2007
23
Hereditary diffuse gastric cancer: diagnosis and management. 62 24 5
16527687 2006
24
Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. 62 24 5
16061854 2005
25
Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. 62 24 5
15138207 2004
26
Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands. 62 24 5
12588804 2003
27
Genetic screening for hereditary diffuse gastric cancer. 62 24 5
12647996 2003
28
Novel germline CDH1 mutations in hereditary diffuse gastric cancer families. 62 24 5
11968084 2002
29
Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? 57 5
11443625 2001
30
E-cadherin mutation-based genetic counseling and hereditary diffuse gastric carcinoma. 57 5
11104024 2000
31
Familial gastric cancer: overview and guidelines for management. 62 24 57
10593993 1999
32
FAMILIAL GASTRIC CANCER. 57 5
14158754 1964
33
Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. 24 5
11948460 2002
34
E-cadherin gene mutations provide clues to diffuse type gastric carcinomas. 24 5
8033105 1994
35
E-cadherin gene mutations in human gastric carcinoma cell lines. 24 5
8127895 1994
36
Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family. 62 5
32362280 2020
37
Endoscopic Ultrasound Has Limited Utility in Diagnosis of Gastric Cancer in Carriers of CDH1 Mutations. 62 5
31077828 2020
38
Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria. 62 5
31296550 2019
39
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC). 62 5
30745422 2019
40
Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori. 62 5
29589180 2019
41
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. 62 5
30311375 2018
42
Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer. 62 5
29769627 2018
43
Therapeutic and prophylactic gastrectomy in a family with hereditary diffuse gastric cancer secondary to a CDH1 mutation: a case series. 62 5
30007404 2018
44
A new mutation of the CDH1 gene in a patient with an aggressive signet-ring cell carcinoma of the stomach. 62 5
29131691 2018
45
Histologic and immunohistochemical differences between hereditary and sporadic diffuse gastric carcinoma. 62 5
29307626 2018
46
Unexpected CDH1 Mutations Identified on Multigene Panels Pose Clinical Management Challenges. 62 5
35172483 2017
47
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. 62 5
28301459 2017
48
Roles for E-cadherin cell surface regulation in cancer. 62 5
27582386 2016
49
CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS). 62 5
27192129 2016
50
Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer. 62 5
27064202 2016

Variations for Diffuse Gastric and Lobular Breast Cancer Syndrome

ClinVar genetic disease variations for Diffuse Gastric and Lobular Breast Cancer Syndrome:

5 (show top 50) (show all 2570)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDH1 NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) SNV Pathogenic
12237 rs121964874 GRCh37: 16:68857460-68857460
GRCh38: 16:68823557-68823557
2 CDH1 NM_004360.5(CDH1):c.531+2T>A SNV Pathogenic
12248 rs1597890755 GRCh37: 16:68842472-68842472
GRCh38: 16:68808569-68808569
3 CDH1 nsv513771 DEL Pathogenic
12251 GRCh37:
GRCh38:
4 CDH1 NM_004360.5(CDH1):c.1220del (p.Pro407fs) DEL Pathogenic
224789 rs886037822 GRCh37: 16:68847295-68847295
GRCh38: 16:68813392-68813392
5 CDH1 NM_004360.5(CDH1):c.1023T>G (p.Tyr341Ter) SNV Pathogenic
156374 rs587776398 GRCh37: 16:68846052-68846052
GRCh38: 16:68812149-68812149
6 CDH1 NC_000016.10:g.(?_68737292)_(68738411_?)del DEL Pathogenic
417390 GRCh37: 16:68771195-68772314
GRCh38: 16:68737292-68738411
7 overlap with 2 genes NC_000016.10:g.(?_68737292)_(68835541_?)del DEL Pathogenic
417388 GRCh37: 16:68771195-68869444
GRCh38: 16:68737292-68835541
8 CDH1 NC_000016.10:g.(?_68801670)_(68801893_?)del DEL Pathogenic
417391 GRCh37: 16:68835573-68835796
GRCh38: 16:68801670-68801893
9 CDH1 NM_004360.5(CDH1):c.1612del (p.Asp538fs) DEL Pathogenic
437928 rs1555516545 GRCh37: 16:68853228-68853228
GRCh38: 16:68819325-68819325
10 CDH1 NC_000016.10:g.(?_68833284)_(68833505_?)del DEL Pathogenic
463692 GRCh37: 16:68867187-68867408
GRCh38: 16:68833284-68833505
11 CDH1 NC_000016.10:g.(?_68833280)_(68833509_?)del DEL Pathogenic
583611 GRCh37: 16:68867183-68867412
GRCh38: 16:68833280-68833509
12 CDH1 NC_000016.10:g.(?_68737406)_(68738421_?)del DEL Pathogenic
583823 GRCh37: 16:68771309-68772324
GRCh38: 16:68737406-68738421
13 CDH1 and overlap with 1 gene(s) NC_000016.10:g.(?_68737406)_(68833509_?)del DEL Pathogenic
653530 GRCh37: 16:68771309-68867412
GRCh38: 16:68737406-68833509
14 CDH1 NM_004360.5(CDH1):c.1397_1409delinsAAA (p.Leu466fs) INDEL Pathogenic
655990 rs1597897917 GRCh37: 16:68849494-68849506
GRCh38: 16:68815591-68815603
15 CDH1 NC_000016.10:g.(?_68828164)_(68833509_?)del DEL Pathogenic
662849 GRCh37: 16:68862067-68867412
GRCh38: 16:68828164-68833509
16 CDH1 NM_004360.5(CDH1):c.468G>A (p.Trp156Ter) SNV Pathogenic
234595 rs876661107 GRCh37: 16:68842407-68842407
GRCh38: 16:68808504-68808504
17 CDH1 NM_004360.5(CDH1):c.337A>T (p.Lys113Ter) SNV Pathogenic
234594 rs876661106 GRCh37: 16:68835746-68835746
GRCh38: 16:68801843-68801843
18 CDH1 NM_004360.5(CDH1):c.707C>A (p.Ser236Ter) SNV Pathogenic
182393 rs730881663 GRCh37: 16:68844119-68844119
GRCh38: 16:68810216-68810216
19 CDH1 NM_004360.5(CDH1):c.360del (p.His121fs) DEL Pathogenic
818202 rs878854690 GRCh37: 16:68835766-68835766
GRCh38: 16:68801863-68801863
20 CDH1 NC_000016.10:g.(?_68737416)_(68738421_?)del DEL Pathogenic
830577 GRCh37: 16:68771319-68772324
GRCh38:
21 CDH1 NC_000016.10:g.(?_68828164)_(68829807_?)del DEL Pathogenic
832262 GRCh37: 16:68862067-68863710
GRCh38:
22 CDH1 NC_000016.10:g.(?_68787043)_(68833499_?)del DEL Pathogenic
832497 GRCh37: 16:68820946-68867402
GRCh38:
23 CDH1 NC_000016.10:g.(?_68787043)_(68801903_?)del DEL Pathogenic
833013 GRCh37: 16:68820946-68835806
GRCh38:
24 CDH1 NM_004360.5(CDH1):c.2164+6_2439+966del DEL Pathogenic
845399 GRCh37: 16:68857533-68864664
GRCh38: 16:68823630-68830761
25 CDH1 NM_004360.5(CDH1):c.489C>A (p.Cys163Ter) SNV Pathogenic
420004 rs1064794230 GRCh37: 16:68842428-68842428
GRCh38: 16:68808525-68808525
26 CDH1 NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter) SNV Pathogenic
265511 rs886039590 GRCh37: 16:68853195-68853195
GRCh38: 16:68819292-68819292
27 CDH1 NM_004360.5(CDH1):c.1031_1032dup (p.Val345fs) DUP Pathogenic
449922 rs1555515721 GRCh37: 16:68846058-68846059
GRCh38: 16:68812155-68812156
28 CDH1 NM_004360.5(CDH1):c.1312del (p.Thr438fs) DEL Pathogenic
545807 rs1555515920 GRCh37: 16:68847387-68847387
GRCh38: 16:68813484-68813484
29 CDH1 NM_004360.5(CDH1):c.2116del (p.Gln706fs) DEL Pathogenic
936809 rs1961235503 GRCh37: 16:68857481-68857481
GRCh38: 16:68823578-68823578
30 CDH1 NM_004360.5(CDH1):c.1237_1238dup (p.Ile415fs) MICROSAT Pathogenic
428622 rs1131690811 GRCh37: 16:68847312-68847313
GRCh38: 16:68813409-68813410
31 CDH1 NM_004360.5(CDH1):c.1733dup (p.Gly579fs) DUP Pathogenic
545756 rs1555516821 GRCh37: 16:68855924-68855925
GRCh38: 16:68822021-68822022
32 CDH1 NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter) SNV Pathogenic
428624 rs1131690813 GRCh37: 16:68863572-68863572
GRCh38: 16:68829669-68829669
33 CDH1 NC_000016.9:g.(?_68857535)_68864666del DEL Pathogenic
1072980 GRCh37:
GRCh38:
34 CDH1 NM_004360.5(CDH1):c.2T>A (p.Met1Lys) SNV Pathogenic
1292057 GRCh37: 16:68771320-68771320
GRCh38: 16:68737417-68737417
35 CDH1 NM_004360.5(CDH1):c.2076_2077del (p.Gly693fs) DEL Pathogenic
1292056 rs876661133 GRCh37: 16:68857441-68857442
GRCh38: 16:68823538-68823539
36 CDH1 NM_004360.5(CDH1):c.1350_1362del (p.Gln449_Tyr450insTer) DEL Pathogenic
1378198 GRCh37: 16:68849444-68849456
GRCh38: 16:68815541-68815553
37 CDH1 NM_004360.5(CDH1):c.1889_1892del (p.Leu630fs) DEL Pathogenic
1368108 GRCh37: 16:68856078-68856081
GRCh38: 16:68822175-68822178
38 CDH1 NM_004360.5(CDH1):c.348_351dup (p.Thr118fs) DUP Pathogenic
1357619 GRCh37: 16:68835755-68835756
GRCh38: 16:68801852-68801853
39 CDH1 NM_004360.5(CDH1):c.537del (p.Lys179fs) DEL Pathogenic
1405110 GRCh37: 16:68842599-68842599
GRCh38: 16:68808696-68808696
40 CDH1 NM_004360.5(CDH1):c.1211_1212dup (p.Asn405fs) DUP Pathogenic
1419876 GRCh37: 16:68847285-68847286
GRCh38: 16:68813382-68813383
41 CDH1 NM_004360.5(CDH1):c.2253del (p.Asn751fs) DEL Pathogenic
1400394 GRCh37: 16:68862165-68862165
GRCh38: 16:68828262-68828262
42 CDH1 NM_004360.5(CDH1):c.2222T>A (p.Leu741Ter) SNV Pathogenic
1432395 GRCh37: 16:68862134-68862134
GRCh38: 16:68828231-68828231
43 CDH1 NM_004360.5(CDH1):c.309G>A (p.Trp103Ter) SNV Pathogenic
1459026 GRCh37: 16:68835718-68835718
GRCh38: 16:68801815-68801815
44 CDH1 NM_004360.5(CDH1):c.66C>A (p.Cys22Ter) SNV Pathogenic
1456385 GRCh37: 16:68772217-68772217
GRCh38: 16:68738314-68738314
45 CDH1 NM_004360.5(CDH1):c.1849_1856del (p.Ala617fs) DEL Pathogenic
1455269 GRCh37: 16:68856040-68856047
GRCh38: 16:68822137-68822144
46 CDH1 NM_004360.5(CDH1):c.2054dup (p.Cys686fs) DUP Pathogenic
1455457 GRCh37: 16:68857418-68857419
GRCh38: 16:68823515-68823516
47 CDH1 NM_004360.5(CDH1):c.31del (p.Leu11fs) DEL Pathogenic
1459167 GRCh37: 16:68771349-68771349
GRCh38: 16:68737446-68737446
48 CDH1 NM_004360.5(CDH1):c.60del (p.Trp20fs) DEL Pathogenic
1437379 GRCh37: 16:68772210-68772210
GRCh38: 16:68738307-68738307
49 CDH1 NM_004360.5(CDH1):c.935del (p.Pro312fs) DEL Pathogenic
1457844 GRCh37: 16:68845687-68845687
GRCh38: 16:68811784-68811784
50 CDH1 NC_000016.9:g.(?_68771319)_(68849672_?)del DEL Pathogenic
1460200 GRCh37: 16:68771319-68849672
GRCh38:

UniProtKB/Swiss-Prot genetic disease variations for Diffuse Gastric and Lobular Breast Cancer Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 CDH1 p.Asp244Gly VAR_008712 rs1064794231
2 CDH1 p.Val487Ala VAR_008713
3 CDH1 p.Val832Met VAR_023358 rs35572355

Cosmic variations for Diffuse Gastric and Lobular Breast Cancer Syndrome:

8 (show top 50) (show all 68278)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM94780361 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.1159G>A p.A387T 18:25226759-25226759 10
2 COSM131486960 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.1159G>A p.A387T 18:25226759-25226759 10
3 COSM140706619 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.499G>A p.A167T 18:25226759-25226759 10
4 COSM94777296 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.2285G>A p.R762H 18:25225633-25225633 10
5 COSM131495211 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.443G>A p.C148Y 18:25227475-25227475 10
6 COSM140704933 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.1625G>A p.R542H 18:25225633-25225633 10
7 COSM94795709 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.3434T>G p.V1145G 18:25224484-25224484 10
8 COSM94788727 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.443G>A p.C148Y 18:25227475-25227475 10
9 COSM140712668 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.-218G>A p.? 18:25227475-25227475 10
10 COSM131483683 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.2285G>A p.R762H 18:25225633-25225633 10
11 COSM131502188 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.3434T>G p.V1145G 18:25224484-25224484 10
12 COSM140717636 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.2774T>G p.V925G 18:25224484-25224484 10
13 COSM89892679 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.1136G>A p.R379Q 12:6669044-6669044 10
14 COSM99686061 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.1319G>A p.R440Q 12:6669044-6669044 10
15 COSM96892872 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.1319G>A p.R440Q 12:6669044-6669044 10
16 COSM92495186 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.971G>A p.R324Q 12:6669044-6669044 10
17 COSM90523509 ZNF341 stomach,NS,carcinoma,adenocarcinoma c.2512G>A p.A838T 20:33791485-33791485 10
18 COSM98293254 ZNF341 stomach,NS,carcinoma,adenocarcinoma c.2533G>A p.A845T 20:33791485-33791485 10
19 COSM84509305 ZNF276 stomach,NS,carcinoma,adenocarcinoma c.*677T>G p.? 16:89738923-89738923 10
20 COSM102042239 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.5456G>T p.R1819L 16:72794484-72794484 10
21 COSM149288723 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1081G>A p.G361R 16:72959065-72959065 10
22 COSM149261321 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1858C>T p.H620Y 16:72958288-72958288 10
23 COSM102020152 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.-23-7323C>T p.? 16:72958288-72958288 10
24 COSM87271088 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1858C>T p.H620Y 16:72958288-72958288 10
25 COSM87290698 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.795C>A p.D265E 16:72959351-72959351 10
26 COSM87291716 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.4553G>T p.G1518V 16:72798129-72798129 10
27 COSM149332052 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.5929G>C p.G1977R 16:72796753-72796753 10
28 COSM87280547 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1081G>A p.G361R 16:72959065-72959065 10
29 COSM102040971 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.-23-8386C>A p.? 16:72959351-72959351 10
30 COSM87291652 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.8198G>T p.R2733L 16:72794484-72794484 10
31 COSM87296752 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.5929G>C p.G1977R 16:72796753-72796753 10
32 COSM149318848 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.4553G>T p.G1518V 16:72798129-72798129 10
33 COSM149318790 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.8198G>T p.R2733L 16:72794484-72794484 10
34 COSM102042308 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.1811G>T p.G604V 16:72798129-72798129 10
35 COSM149315912 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.795C>A p.D265E 16:72959351-72959351 10
36 COSM102048038 ZFHX3 stomach,NS,carcinoma,adenocarcinoma c.3187G>C p.G1063R 16:72796753-72796753 10
37 COSM89893344 YES1 stomach,NS,carcinoma,adenocarcinoma c.350G>A p.R117K 18:751726-751726 10
38 COSM136835352 YES1 stomach,NS,carcinoma,adenocarcinoma c.365G>A p.R122K 18:751726-751726 10
39 COSM152021882 YES1 stomach,NS,carcinoma,adenocarcinoma c.350G>A p.R117K 18:751726-751726 10
40 COSM143039512 YAP1 stomach,NS,carcinoma,adenocarcinoma c.356C>G p.T119S 11:102114178-102114178 10
41 COSM145026456 YAP1 stomach,NS,carcinoma,adenocarcinoma c.356C>G p.T119S 11:102114178-102114178 10
42 COSM85235472 YAP1 stomach,NS,carcinoma,adenocarcinoma c.356C>G p.T119S 11:102114178-102114178 10
43 COSM128450026 YAP1 stomach,NS,carcinoma,adenocarcinoma c.356C>G p.T119S 11:102114178-102114178 10
44 COSM126971185 YAP1 stomach,NS,carcinoma,adenocarcinoma c.-179C>G p.? 11:102114178-102114178 10
45 COSM133271379 YAP1 stomach,NS,carcinoma,adenocarcinoma c.356C>G p.T119S 11:102114178-102114178 10
46 COSM127996054 YAP1 stomach,NS,carcinoma,adenocarcinoma c.356C>G p.T119S 11:102114178-102114178 10
47 COSM90945716 YAP1 stomach,NS,carcinoma,adenocarcinoma c.356C>G p.T119S 11:102114178-102114178 10
48 COSM97252932 XRCC2 stomach,NS,carcinoma,adenocarcinoma c.140A>G p.H47R 7:152649345-152649345 10
49 COSM101975785 XPO1 stomach,NS,carcinoma,adenocarcinoma c.479G>A p.S160N 2:61499824-61499824 10
50 COSM104238199 XPO1 stomach,NS,carcinoma,adenocarcinoma c.781C>T p.R261* 2:61496986-61496986 10

Copy number variations for Diffuse Gastric and Lobular Breast Cancer Syndrome from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 133641 19 67328695 67426945 Deletion CDH1 hereditary diffuse gastric cancer

Expression for Diffuse Gastric and Lobular Breast Cancer Syndrome

Search GEO for disease gene expression data for Diffuse Gastric and Lobular Breast Cancer Syndrome.

Pathways for Diffuse Gastric and Lobular Breast Cancer Syndrome

Pathways related to Diffuse Gastric and Lobular Breast Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 ATM BRCA1 CDH1 CDH17 CTNNA1 CTNND1
2
Show member pathways
13.63 TP53 RAD51C PMS2 PALB2 MUTYH MSH6
3
Show member pathways
13.16 TP53 PMS2 MSH2 MLH1 BRCA1 ATM
4
Show member pathways
13.1 ATM BRCA1 BRCA2 MLH1 MSH2 MSH6
5
Show member pathways
12.91 ATM BRCA1 BRCA2 KRAS MAP3K6 MLH1
6
Show member pathways
12.9 ATM BRCA1 MLH1 MSH2 PMS2 STK11
7
Show member pathways
12.72 TP53 MSH6 MSH2 MLH1 KRAS CTNNA1
8
Show member pathways
12.7 RAD51C MLH1 BRCA2 BRCA1 ATM
9 12.66 TP53 MAP3K6 CTNNA1 CDH1 BRCA1 ATM
10
Show member pathways
12.61 ATM BRCA1 BRCA2 MLH1 MSH2 MSH6
11
Show member pathways
12.57 TP53 MSH6 MSH2 BRCA2 BRCA1 ATM
12 12.48 TP53 MUTYH MSH6 MSH2 MLH1 BRCA2
13
Show member pathways
12.43 ATM BRCA1 BRCA2 KRAS TP53
14
Show member pathways
12.42 PMS2 MUTYH MSH6 MSH2 MLH1 BRCA1
15 12.41 TP53 MAP3K6 CTNNA1 CDH17 CDH1
16
Show member pathways
12.33 RAD51C PALB2 BRCA2 BRCA1 ATM
17
Show member pathways
12.21 RAD51C PMS2 PALB2 MUTYH MSH6 MSH2
18 12.2 TP53 MSH6 MSH2 MLH1 KRAS CDH1
19 12.04 TP53 PMS2 MSH2 MLH1
20 12.01 CTNND1 CTNNA1 CDH17 CDH1
21
Show member pathways
11.89 TP53 BRCA2 BRCA1 ATM
22 11.88 TP53 KRAS ATM
23
Show member pathways
11.83 TP53 MSH6 MSH2 BRCA2 BRCA1 ATM
24
Show member pathways
11.79 TP53 BRCA1 ATM
25 11.72 TP53 STK11 KRAS
26 11.65 TP53 BRCA1 ATM
27 11.61 TP53 PALB2 MSH2 MLH1 BRCA2 BRCA1
28 11.53 CTNND1 CTNNA1 CDH1
29 11.51 CTNND1 CTNNA1 CDH1
30 11.48 TP53 BRCA1 ATM
31 11.46 TP53 STK11 MSH6 MSH2 KRAS CDH1
32 11.45 CTNND1 CTNNA1 CDH1
33 11.43 CDH1 KRAS TP53
34 11.43 TP53 MSH6 MSH2 BRCA1 ATM
35 11.42 CDH1 CTNNA1 CTNND1
36
Show member pathways
11.42 MLH1 MSH2 TP53
37
Show member pathways
11.39 CTNND1 CTNNA1 CDH1
38 11.31 TP53 BRCA1 ATM
39 11.29 TP53 KRAS ATM
40 11.29 PMS2 MSH6 MSH2 MLH1
41 11.26 TP53 BRCA1 ATM
42 11.04 TP53 BRCA1 ATM
43 11.01 CTNND1 CTNNA1 CDH1
44 10.73 BRCA1 ATM
45 10.69 TP53 CDH1
46 10.45 TP53 ATM
47
Show member pathways
10.26 PMS2 MLH1

GO Terms for Diffuse Gastric and Lobular Breast Cancer Syndrome

Cellular components related to Diffuse Gastric and Lobular Breast Cancer Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear ubiquitin ligase complex GO:0000152 9.67 BRCA2 BRCA1
2 MutLalpha complex GO:0032389 9.62 PMS2 MLH1
3 MutSalpha complex GO:0032301 9.56 MSH6 MSH2
4 catenin complex GO:0016342 9.56 CTNND1 CTNNA1 CDH17 CDH1
5 mismatch repair complex GO:0032300 9.55 PMS2 MSH2 MLH1
6 DNA repair complex GO:1990391 9.23 PALB2 BRCA2 BRCA1 ATM

Biological processes related to Diffuse Gastric and Lobular Breast Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell cycle GO:0051726 10.26 TP53 STK11 MSH2 BRCA1 ATM
2 double-strand break repair via homologous recombination GO:0000724 10.18 ATM BRCA1 BRCA2 PALB2 RAD51C
3 double-strand break repair GO:0006302 10.13 TP53 MSH2 BRCA2 BRCA1 ATM
4 cellular senescence GO:0090398 10.11 TP53 BRCA2 ATM
5 cell cycle GO:0007049 10.1 TP53 STK11 MLH1 BRCA2 BRCA1 ATM
6 somitogenesis GO:0001756 10.09 ATM PALB2 TP53
7 response to ionizing radiation GO:0010212 10.08 STK11 BRCA1 ATM
8 cellular response to ionizing radiation GO:0071479 10.07 BRCA1 BRCA2 TP53
9 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 10.02 TP53 MSH2 BRCA2
10 response to X-ray GO:0010165 10 TP53 MSH2 BRCA2
11 isotype switching GO:0045190 9.99 MSH6 MSH2 MLH1
12 determination of adult lifespan GO:0008340 9.97 TP53 MSH6 MSH2 ATM
13 reciprocal meiotic recombination GO:0007131 9.96 RAD51C MLH1 ATM
14 mismatch repair GO:0006298 9.96 MLH1 MSH2 MSH6 MUTYH PMS2
15 meiotic telomere clustering GO:0045141 9.94 MLH1 ATM
16 DNA recombination GO:0006310 9.93 BRCA1 BRCA2 PALB2 RAD51C
17 cellular response to indole-3-methanol GO:0071681 9.93 CTNNA1 CDH1 BRCA1
18 positive regulation of helicase activity GO:0051096 9.92 MSH6 MSH2
19 somatic hypermutation of immunoglobulin genes GO:0016446 9.92 PMS2 MSH6 MSH2 MLH1
20 positive regulation of isotype switching to IgA isotypes GO:0048298 9.88 MSH2 MLH1
21 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.85 MSH6 MSH2 MLH1 BRCA2 BRCA1 ATM
22 DNA repair GO:0006281 9.83 ATM BRCA1 BRCA2 MLH1 MSH2 MSH6
23 somatic recombination of immunoglobulin gene segments GO:0016447 9.8 MLH1 MSH2 MSH6
24 chordate embryonic development GO:0043009 9.79 BRCA2 BRCA1
25 maintenance of DNA repeat elements GO:0043570 9.75 MSH6 MSH2
26 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.67 MSH2 MLH1
27 response to stress GO:0006950 9.57 MUTYH ATM
28 cellular response to DNA damage stimulus GO:0006974 9.53 TP53 STK11 RAD51C PMS2 PALB2 MUTYH

Molecular functions related to Diffuse Gastric and Lobular Breast Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.42 ATM BRCA1 BRCA2 MSH2 MSH6 MUTYH
2 nucleotide binding GO:0000166 10.11 STK11 RAD51C MSH6 MSH2 MLH1 MAP3K6
3 single-stranded DNA binding GO:0003697 10.08 PMS2 MSH2 MLH1 BRCA2
4 four-way junction DNA binding GO:0000400 9.88 MSH2 MSH6 RAD51C
5 MutSalpha complex binding GO:0032407 9.85 PMS2 MUTYH MLH1
6 single guanine insertion binding GO:0032142 9.76 MSH6 MSH2
7 single thymine insertion binding GO:0032143 9.73 MSH6 MSH2
8 oxidized purine DNA binding GO:0032357 9.73 MUTYH MSH6 MSH2
9 MutLalpha complex binding GO:0032405 9.72 MUTYH MSH6 MSH2
10 guanine/thymine mispair binding GO:0032137 9.63 MLH1 MSH2 MSH6
11 mismatched DNA binding GO:0030983 9.43 PMS2 MSH6 MSH2 MLH1
12 ATP-dependent DNA damage sensor activity GO:0140664 9.32 RAD51C PMS2 MSH6 MSH2 MLH1

Sources for Diffuse Gastric and Lobular Breast Cancer Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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