SMAD4

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SMAD4

A gene on chromosome 18q21.1 that encodes a SMAD family protein, named for their similarity to the Drosophila gene Mothers Against Decapentaplegic (MAD), which are signal transducers and transcription modulators of multiple signalling pathways. SMAD4 forms homomeric complexes and heteromeric complexes with other activated SMADs; these accumulate in the nucleus and regulate target gene transcription. SMAD4 binds to DNA and recognizes an 8-bp palindromic sequence, the SMAD-binding element (SBE).
 
Molecular pathology
SMAD4 mutations or deletions are linked to hereditary haemorrhagic telangiectasia syndrome, juvenile polyposis syndrome and pancreatic cancer.
References in periodicals archive ?
After determining the DNA sequence of DPC4, Kern and his colleagues discovered that some pancreatic cancer patients who were obviously missing one copy of the gene had small mutations in the other copy.
Immunohistochemical study of DPC4 and p53 proteins in gallbladder and bile duct cancers.
(70) After extensive literature review, Lin et al (78) recently proposed pVHL, Maspin, S100P, IMP-3, cytokeratin 17, MUC5AC, and Dpc4 as the best IHC panel for diagnosing PDAC in surgical and cytology material.
Role of the DPC4 tumor suppressor gene in adenocarcinoma of the ampulla of Vater: analysis of 140 cases.
SMAD4 (DPC4) encodes a member of the Smad family of signal transduction proteins, which act in signal transduction through activation of transforming growth factor [beta] (TGF-[beta]).
A panel including CK7, CK20, deleted in pancreatic cancer 4 (DPC4)/SMAD4, and PAX8 is efficient for an initial categorization of these tumors.
Loss of DPC4 expression has been reported in up to 22% of cases, and p53 expression was usually not seen.
As the adenoma increases in size and degree of dysplasia, additional genetic alterations occur including induction of the v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) oncogene and loss of function of tumor suppressor genes on chromosome arm 18q in the region of DCC and deleted in pancreatic cancer (DPC4) genes.
Cytokeratins 7 and 20, Dpc4, and MUC5AC in the distinction of metastatic mucinous carcinomas in the ovary from primary ovarian mucinous tumors: Dpc4 assists in identifying metastatic pancreatic carcinomas.
K-ras, p53, and DPC4 (MAD4) alterations in fine-needle aspirates of the pancreas: amolecula rpanel correlates with and supplements cytologic diagnosis.
(7) Apart from MEN1, single gene mutations of tumor suppressor genes and oncogenes commonly associated with other neoplasms such as p16, PTEN, KRAS, DPC4, VHL, and TP53 rarely appear in pNETs.