Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We used a Markov model of HDGC progression associated with pathogenic variants in CDH1 to simulate outcomes of hypothetical cohorts with different ages at time of PTG (ages 20-79 years).
|
31220641 |
2020 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic germline CDH1 mutations are causative of hereditary diffuse gastric cancer, a cancer predisposition syndrome primarily characterised by an extreme lifetime risk of developing diffuse gastric cancer.
|
29589180 |
2019 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The E-cadherin gene (CDH1) is frequently mutated in diffuse gastric cancer and lobular breast cancer, and germline mutations predispose to the cancer syndrome Hereditary Diffuse Gastric Cancer.
|
30066183 |
2019 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Review of the literature revealed a significant enrichment of CDH1 mutations within the EC domains in CLP/HDGC families (Fisher's exact test, p = 0.007) in comparison to CDH1 mutations associated with HDGC only.
|
30306390 |
2019 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Is prophylactic gastrectomy indicated for healthy carriers of CDH1 gene mutations associated with hereditary diffuse gastric cancer?
|
30466290 |
2019 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in CDH1, encoding E-cadherin, are known to be the causative mechanism of hereditary diffuse gastric cancer (HDGC).
|
30542785 |
2019 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).
|
30745422 |
2019 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is especially detrimental in syndromes such as hereditary diffuse gastric cancer due to a CDH1 germline mutation, for which lifesaving prevention is possible.
|
31109593 |
2019 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gastric cancer standardized incidence ratio estimates relative to Surveillance, Epidemiology, and End Results (SEER) Program incidence for pathogenic CDH1 variants from families ascertained without regard to HDGC criteria.
|
31246251 |
2019 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to determine associations between CDH1 germline variant status and clinical phenotypes of HDGC.
|
30745422 |
2019 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer.
|
29577179 |
2019 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, germline mutations in CDH1 predispose to the autosomal dominant cancer syndrome Hereditary Diffuse Gastric Cancer (HDGC).
|
31467357 |
2019 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status.
|
28688938 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer.
|
29769627 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe the case of a male with recurrent gastric cancer who was diagnosed with HDGC secondary to the CDH1 mutation, and we also describe the patient's pedigree and outcomes of recommended genetic testing.
|
29376063 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer.
|
29769627 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline pathogenic variants in the CDH1 gene cause hereditary diffuse gastric cancer and lobular breast cancer, a clinically challenging cancer predisposition syndrome that often requires a multidisciplinary team of experts to be properly managed.
|
30311375 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We did whole-exome sequencing on DNA extracted from the blood of 39 individuals (28 individuals diagnosed with hereditary diffuse gastric cancer and 11 unaffected first-degree relatives) in 22 families without pathogenic CDH1 variants.
|
29706558 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a case series of three siblings with family history of HDGC who tested positive for the CDH1 mutation and describe their surgical treatment course, post-operative management, and follow-up as they pertain to the updated guidelines.
|
30007404 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine the yield of endoscopic screening in first-degree relatives (FDRs) of CDH1-negative hereditary diffuse-type gastric cancer (HDGC) patients.
|
28455161 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Variants in CDH1 have been linked to familial hereditary diffuse gastric cancer and invasive lobular breast cancer; however, no cases of gastric or breast cancer have been reported in our BCDS cases.
|
29348693 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Eighty-five individuals fulfilling HDGC criteria underwent 201 endoscopies; 54 (63.5%) tested positive for CDH1 mutation.
|
28688938 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
11 patients with confirmed CDH1 mutation who were found to have HDGC in a prophylactic total gastrectomy were collected.
|
29307626 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in CDH1, the gene coding for the E-cadherin adhesion protein, are known to cause hereditary diffuse gastric cancer.
|
29131691 |
2018 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.
|
29798843 |
2018 |