Variant: rs377767347 

    present in Gene: SMAD4
    present in Chromosome: 18
    Position on Chromosome: 51065549
    Alleles of this Variant: G/A;C;T

rs377767347 in SMAD4 gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs377767347 in SMAD4 gene and Adenocarcinoma of pancreas PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs377767347 in SMAD4 gene and Colorectal Neoplasms PMID 10479724 1999 Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 12821112 2003 Role of Smad4 (DPC4) inactivation in human cancer.

PMID 17994767 2007 Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells.

PMID 14715079 2004 Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells.

PMID 9679244 1998 TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads.

PMID 8898652 1996 Somatic alterations of the DPC4 gene in human colorectal cancers in vivo.

PMID 10775259 2000 Transcriptional control by the TGF-beta/Smad signaling system.

rs377767347 in SMAD4 gene and Esophageal carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs377767347 in SMAD4 gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs377767347 in SMAD4 gene and Juvenile polyposis syndrome PMID 17873119 2007 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

PMID 16613914 2006 SMAD4 mutations found in unselected HHT patients.

PMID 20101697 2010 Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

PMID 15014009 2004 Missense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors.

PMID 10764709 2000 Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.

PMID 10797267 2000 Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.

PMID 9811934 1998 Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

PMID 27595937 2016 Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase.

rs377767347 in SMAD4 gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs377767347 in SMAD4 gene and Neoplastic Syndromes, Hereditary PMID 10797267 2000 Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.

PMID 17873119 2007 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

PMID 11274206 2001 Formation of a stable heterodimer between Smad2 and Smad4.

PMID 9811934 1998 Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

PMID 15235019 2004 The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

PMID 20101697 2010 Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

PMID 15031030 2004 A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

rs377767347 in SMAD4 gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs377767347 in SMAD4 gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.