rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
28152038
2017
rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
28944238
2017
rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease.
27375208
2016
rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.
25931195
2015
rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
23239472
2013
rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
23399955
2013
rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
22316667
2012
rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity?
22748914
2012
rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
17873119
2007
rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
9582123
1998