rs746481984
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Through genetic, transcriptional, in silico and in vitro studies, we demonstrate the deleterious effect of the c.1679C>G variant and its association with hereditary diffuse gastric cancer, providing relevant data to relatives and allowing an accurate genetic counseling.
|
29769627 |
2018 |
rs746481984
|
|
|
0.720 |
GeneticVariation |
BEFREE |
These results support the conclusion that CDH1 c.1679C>G (p.T560R) variant is a pathogenic mutation and contributes to HDGC through disruption of normal splicing.
|
27880784 |
2016 |
rs587780784
|
|
|
0.710 |
GeneticVariation |
BEFREE |
One of 23 (4.3 %) HDGC patients had a CDH1 germline mutation (c.1003C>T).
|
23264079 |
2013 |
rs141787524
|
|
|
0.010 |
GeneticVariation |
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 |
rs33935154
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this family, the mutation c.1849G>A in the CDH1 gene is not related to HDGC nor ILC.
|
25981591 |
2015 |
rs587782359
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A new germline missense mutation (P373L) was recently identified in a HDGC Italian family.
|
17434710 |
2007 |
rs63750447
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results as following, the T1151A detection rate was remarkably higher in patients with familial gastric cancer or suspected familial gastric cancer compared to normal control patients (P < 0.05).
|
20177793 |
2011 |
rs749591910
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Both results (functional and clinical) support the conclusion that the CDH1 c.48 G>C (Q16H) variant contributes to HDGC through the generation of a pathogenic missense mutation with loss of anti-invasive function.
|
25771876 |
2014 |
rs757422353
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.
|
30306390 |
2019 |
rs876658146
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.
|
30306390 |
2019 |
rs876659384
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a nonsense (E287X) TP53 germline mutation in a family whose history is compatible with both HDGC and LFS.
|
15368100 |
2004 |
rs919875624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One germline missense variant leading to a non-conservative amino acid change (c. 2810 C > A, Thr 937 Asn) was found in a familial gastric cancer patient with a diffuse type tumour.No somatic mutations were identified.
|
16025435 |
2005 |
rs746481984
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.
|
23709761 |
2013 |
rs746481984
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
These results support the conclusion that CDH1 c.1679C>G (p.T560R) variant is a pathogenic mutation and contributes to HDGC through disruption of normal splicing.
|
27880784 |
2016 |
rs746481984
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Through genetic, transcriptional, in silico and in vitro studies, we demonstrate the deleterious effect of the c.1679C>G variant and its association with hereditary diffuse gastric cancer, providing relevant data to relatives and allowing an accurate genetic counseling.
|
29769627 |
2018 |
rs587780784
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hereditary diffuse gastric cancer: a family diagnosis and treatment.
|
22723466 |
2013 |
rs587780784
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management.
|
16061854 |
2005 |
rs587780784
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer.
|
17522512 |
2007 |
rs104894360
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057517542
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060501214
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060501215
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation.
|
10433926 |
1999 |
rs1060501215
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
|
17545690 |
2007 |
rs1060501224
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
|
26182300 |
2015 |
rs1060501224
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
|
26182300 |
2015 |