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 |
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 |
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 |
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 |
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 |
rs587782359
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A new germline missense mutation (P373L) was recently identified in a HDGC Italian family.
|
17434710 |
2007 |
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 |
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 |
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
|
|
C |
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 |
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 |