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Malignant cells showed weak to moderate nuclear staining, in some cases was combined with cytoplasmic positivity. Many cases of malignant gliomas, liver, colorectal, endometrial and renal cancers were negative.
Weak to moderate nuclear staining was observed in most malignancies. Several cases of renal cell carcinomas and malignant gliomas were strongly positive.
GENE INFORMATION
Gene name
SMAD7 (HGNC Symbol)
Synonyms
MADH7, MADH8
Description
SMAD family member 7 (HGNC Symbol)
Entrez gene summary
The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]