|
rs746481984
|
|
Hereditary Diffuse Gastric Cancer
|
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 |
|
rs746481984
|
|
Hereditary Diffuse Gastric Cancer
|
G |
0.720 |
CausalMutation
|
CLINVAR |
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.
|
23709761 |
2013 |
|
rs746481984
|
|
Hereditary Diffuse Gastric Cancer
|
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 |
|
rs587780784
|
|
Hereditary Diffuse Gastric Cancer
|
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 |
|
rs587780784
|
|
Hereditary Diffuse Gastric Cancer
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Hereditary diffuse gastric cancer: a family diagnosis and treatment.
|
22723466 |
2013 |
|
rs587780784
|
|
Hereditary Diffuse Gastric Cancer
|
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 |
|
rs971882211
|
|
Hereditary Diffuse Gastric Cancer
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs971882211
|
|
Hereditary Diffuse Gastric Cancer
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Germline CDH1 mutations in bilateral lobular carcinoma in situ.
|
24366306 |
2014 |
|
rs886041161
|
|
Hereditary Diffuse Gastric Cancer
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Epigenetic and genetic alterations of APC and CDH1 genes in lobular breast cancer: relationships with abnormal E-cadherin and catenin expression and microsatellite instability.
|
12800196 |
2003 |
|
rs886041161
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.
|
20373070 |
2010 |
|
rs886041161
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.
|
15235021 |
2004 |
|
rs886037822
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
|
25741868 |
2015 |
|
rs886037822
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A novel mutation in the CDH1 gene in a Spanish family with hereditary diffuse gastric cancer.
|
27512640 |
2016 |
|
rs878854697
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.
|
20373070 |
2010 |
|
rs878854697
|
|
Hereditary Diffuse Gastric Cancer
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.
|
20373070 |
2010 |
|
rs878854697
|
|
Hereditary Diffuse Gastric Cancer
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
|
26182300 |
2015 |
|
rs878854697
|
|
Hereditary Diffuse Gastric Cancer
|
T |
0.700 |
CausalMutation
|
CLINVAR |
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.
|
23709761 |
2013 |
|
rs878854697
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.
|
15235021 |
2004 |
|
rs878854697
|
|
Hereditary Diffuse Gastric Cancer
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1.
|
23124477 |
2013 |
|
rs878854697
|
|
Hereditary Diffuse Gastric Cancer
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.
|
15235021 |
2004 |
|
rs878854691
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Prophylactic total gastrectomy for individuals with germline CDH1 mutation.
|
20719348 |
2011 |
|
rs878854691
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Structure and biochemistry of cadherins and catenins.
|
20066110 |
2009 |
|
rs878854691
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The cell-cell adhesion molecule E-cadherin.
|
18726070 |
2008 |
|
rs878854691
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
|
26182300 |
2015 |
|
rs878854691
|
|
Hereditary Diffuse Gastric Cancer
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Localization of specificity determining sites in cadherin cell adhesion molecules.
|
2317870 |
1990 |