Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746481984
rs746481984
CDH1
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
dbSNP: rs746481984
rs746481984
CDH1
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
dbSNP: rs587780784
rs587780784
CDH1
0.710 GeneticVariation BEFREE One of 23 (4.3 %) HDGC patients had a CDH1 germline mutation (c.1003C>T). 23264079

2013
dbSNP: rs141787524
rs141787524
MAP3K6
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
dbSNP: rs33935154
rs33935154
CDH1
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
dbSNP: rs587782359
rs587782359
CDH1
0.010 GeneticVariation BEFREE A new germline missense mutation (P373L) was recently identified in a HDGC Italian family. 17434710

2007
dbSNP: rs63750447
rs63750447
MLH1
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
dbSNP: rs749591910
rs749591910
CDH1
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
dbSNP: rs757422353
rs757422353
CDH1
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
dbSNP: rs876658146
rs876658146
CDH1
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
dbSNP: rs876659384
rs876659384
TP53
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
dbSNP: rs919875624
rs919875624
DSG2 ; DSG2-AS1
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
dbSNP: rs746481984
rs746481984
CDH1
G 0.720 CausalMutation CLINVAR CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. 23709761

2013
dbSNP: rs746481984
rs746481984
CDH1
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
dbSNP: rs746481984
rs746481984
CDH1
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
dbSNP: rs587780784
rs587780784
CDH1
T 0.710 CausalMutation CLINVAR Hereditary diffuse gastric cancer: a family diagnosis and treatment. 22723466

2013
dbSNP: rs587780784
rs587780784
CDH1
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
dbSNP: rs587780784
rs587780784
CDH1
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
dbSNP: rs104894360
rs104894360
KRAS
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517542
rs1057517542
CDH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501214
rs1060501214
CDH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501215
rs1060501215
CDH1
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
dbSNP: rs1060501215
rs1060501215
CDH1
G 0.700 CausalMutation CLINVAR Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. 17545690

2007
dbSNP: rs1060501224
rs1060501224
CDH1
A 0.700 GeneticVariation CLINVAR Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 26182300

2015
dbSNP: rs1060501224
rs1060501224
CDH1
A 0.700 CausalMutation CLINVAR Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 26182300

2015