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SMAD4 R361H
GeneSMAD4
Variantmissense
Amino Acid ChangeR361H
DNA Change (Coding Nucleotide)1082G>A
Transcript ID (GRCh37/hg19)ENST00000342988
Codon361
Exon9
Genomic Coordinates (GRCh37/hg19)18:48591919-48591919
COSMIC ID14122
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 3
SMAD4
Variants
SMAD4 R361H
Primary Sites
Stomach
Tumor Types
Adenocarcinoma
Carcinoma
Interpretation

SMAD4 is a tumor suppressor gene and it encodes an intracellular mediator in the transforming growth factor β (TGF β) signal transduction pathway. The gene is inactivated in 40% of human gastric cancers by loss of heterozygosity, promoter hypermethylation, and somatic mutation. Prior sequencing studies have shown that SMAD4 is mutated in up to 8% of gastric cancers. SMAD4 p.R361H mutation occurs within the MH2 domain which is the SMAD-SMAD interaction and transcription activation domain of the protein. The loss of SMAD4, especially loss of nuclear SMAD4 expression, is involved in gastric cancer progression. Mutations at codon 361 have been previously reported in various tumor types. The exact clinical significance of this mutation in gastric cancers needs to be fully elucidated.

Last updated: 2016-10-11 21:49:56 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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