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Article

Loss of function SMAD4 nonstop mutations in human cancer.

Histopathology - 1 Jun 2023

Bauer Anna H, Basta David W, Hornick Jason L, Dong Fei

Abstract excerpt

BACKGROUND: SMAD4 is a tumour suppressor gene that is mutated in a variety of cancers. SMAD4 nonstop mutations, which convert stop codons to sense codons that extend transcription, have been identified in genomic databases but have not been characterised in human pathology samples. The frequency of SMAD4 nonstop mutations and the consequences of nonstop mutations on SMAD4 protein expression are unknown. METHODS:...

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PMID: 36740808
DOI: 10.1111/his.14880

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