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 |
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 |
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.
|
23709761 |
2013 |
rs587780784
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hereditary diffuse gastric cancer: a family diagnosis and treatment.
|
22723466 |
2013 |
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 |
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 |
rs587780537
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer.
|
29577179 |
2019 |
rs876658865
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).
|
30745422 |
2019 |
rs1555518221
|
|
GC |
0.700 |
GeneticVariation |
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 |
rs587776398
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Next generation sequencing-based emerging trends in molecular biology of gastric cancer.
|
29511593 |
2018 |
rs786203576
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status.
|
28688938 |
2018 |
rs876660771
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.
|
30264118 |
2018 |
rs1555509622
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing in familial breast cancer patients from Lebanon.
|
28202063 |
2017 |
rs1555509623
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing in familial breast cancer patients from Lebanon.
|
28202063 |
2017 |
rs1555509623
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing in familial breast cancer patients from Lebanon.
|
28202063 |
2017 |
rs587780537
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
|
28873162 |
2017 |
rs876658575
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.
|
29156750 |
2017 |
rs876660771
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A Life Potentially Saved Through Hereditary Cancer Panel Testing.
|
28195815 |
2017 |
rs878854691
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing in familial breast cancer patients from Lebanon.
|
28202063 |
2017 |
rs1064795267
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.
|
27064202 |
2016 |
rs1064795267
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
|
27153395 |
2016 |
rs267606712
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Presented Abstracts from the Thirty Fifth Annual Education Conference of the National Society of Genetic Counselors (Seattle, WA, September 2016).
|
27730413 |
2016 |
rs587776398
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS).
|
27192129 |
2016 |
rs587780113
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.
|
27064202 |
2016 |
rs587780113
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
|
27153395 |
2016 |