Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the latter group, a syndrome which has been well characterised is hereditary diffuse gastric cancer; this is specifically associated with CDH1 (E-cadherin) germline mutations in about 30% of families.
|
17513507 |
2008 |
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 |
In hereditary diffuse gastric cancer (HDGC), CDH1 germline gene alterations are causative events in 30% of the cases.
|
22850631 |
2013 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Catenin genes are not commonly mutated in non-CDH1 HDGC families.
|
23071139 |
2012 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
E-cadherin gene mutations in association with familial gastric cancer is a new disease for which prophylactic surgery must be considered.
|
11602891 |
2001 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the E-cadherin gene, CDH1, were recently identified in families with hereditary diffuse gastric cancer.
|
16571431 |
2006 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary diffuse gastric cancer (HDGC) is associated with E-cadherin 1 (<i>CDH1</i>) germline mutations.
|
28789394 |
2017 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This case highlights the importance of recognition of the HDGC syndrome and of testing for CDH1 germline mutations in young individuals with diffuse gastric cancer without a family history of the disease.
|
21696387 |
2012 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Together with the occurrence of extra-gastric tumours such as lobular breast and colorectal cancer, these findings further extend the types of CDH1 mutations and the spectrum of tumours associated with HDGC.
|
17221870 |
2007 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
On the other hand, the diffuse type is more likely to have a primary genetic etiology, a subset of which, known as hereditary diffuse gastric cancer (HDGC), is due to the E-cadherin (CDH1) germline mutation.
|
15895459 |
2005 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, most individuals meeting clinical criteria for hereditary diffuse gastric cancer syndrome (HDGC) do not have a germline CDH1 mutation, and germline CDH1 mutation carriers do not all exhibit similar clinical outcomes in terms of age of diagnosis or cancer types.
|
27899187 |
2016 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Type I gamma phosphatidylinositol phosphate kinase modulates adherens junction and E-cadherin trafficking via a direct interaction with mu 1B adaptin.
|
17261850 |
2007 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary diffuse gastric cancer (HDGC) is a relatively rare disorder, with a mutated CDH1 gene as the only known cause.
|
22388873 |
2012 |
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 |
Screening of an additional 115 unrelated individuals with non-CDH1 FGC identified the p.P946L MAP3K6 variant, as well as four additional coding variants in MAP3K6 (p.F849Sfs*142, p.P958T, p.D200Y and p.V207G).
|
25340522 |
2014 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germ line mutations in the E-cadherin gene account for approximately 30% to 50% of cases of hereditary diffuse gastric cancer syndrome.
|
23752020 |
2013 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.
|
22225527 |
2012 |
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 |
UNIPROT |
We screened five Korean familial gastric cancer patients to investigate germline mutations of the E-cadherin gene.
|
10319582 |
1999 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Reproductive genetic testing- PreNatal Diagnosis (PND) and Preimplantation Genetic Diagnosis (PGD)-for CDH1 mutations associated with Hereditary Diffuse Gastric Cancer (HDGC)is available in the UK.
|
28204904 |
2017 |
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 |
In this area, we investigated CDH1 mutations in patients who fulfilled the hereditary diffuse gastric cancer criteria.
|
12908778 |
2003 |
Hereditary Diffuse Gastric Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As the finding of pathogenic CDH1 mutations is useful for management of HDGC families, screening for deletions should be offered to at-risk families.
|
19168852 |
2009 |