General Information of the Molecule (ID: Mol02128)
Name
PAAQR7 (PAAQR7) ,Homo sapiens
Synonyms
PAAQR7
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Molecule Type
Protein
Gene Name
PAAQR7
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Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
Type(s) of Resistant Mechanism of This Molecule
  UAPP: Unusual Activation of Pro-survival Pathway
Drug Resistance Data Categorized by Drug
Approved Drug(s)
1 drug(s) in total
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Imatinib
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Drug Resistance Data Categorized by Their Corresponding Mechanisms
       Unusual Activation of Pro-survival Pathway (UAPP) Click to Show/Hide
Disease Class: Dermatofibrosarcoma protuberans [1]
Resistant Disease Dermatofibrosarcoma protuberans [ICD-11: 2B53.0]
Resistant Drug Imatinib
Molecule Alteration Missense mutation
chr1:26190151G>T
Experimental Note Identified from the Human Clinical Data
In Vitro Model Dermatofibrosarcoma protuberans tissue .
Experiment for
Molecule Alteration
Sequencing assay
Mechanism Description This finding includes mutations in the CARD10, PPP1R39, SAFB2, and STARD9 genes. CARD10 is associated with the activation of the NK-kB signaling pathway and is known to have clinical implications in gastric cancer, colon cancer, and non-small cell lung cance. A potential role for changes in the PPP1R39 gene has also been suggested in the development of human cancers. Further, the SAFB2 gene product is involved in a variety of cellular process, such as cell growth, apoptosis, and stress response and is associated with breast tumorigenesis. In a recent in vitro study, the STARD9 gene product was shown to be associated with mitotic microtubule formation and cell division and might be a potential candidate target to extend the reach of cancer therapeutics. Among the studies mentioned above, Crone et al. demonstrated that targeting CARD10 by microRNA-146a inhibited NF-kB signaling pathway activation in gastric cancer cell lines via reduction of tumor-promoting cytokines and growth factors including PDGFRB. This study showed the possible association between CARD10 inhibition and decreased level of PDGFR and also implied CARD10 activating mutation may be one of the possible resistance mechanism to PBGFR inhibition by imatinib in DFSP.
References
Ref 1 Genetic aberrations in imatinib-resistant dermatofibrosarcoma protuberans revealed by whole genome sequencing .PLoS One. 2013 Jul 29;8(7):e69752. doi: 10.1371/journal.pone.0069752. Print 2013. 10.1371/journal.pone.0069752

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