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| PMID | (25336117) | ||||||||||||
| Authors | Rechsteiner M, Wild P, Kiessling MK, Bohnert A, Zhong Q, Stahel RA, Moch H, Curioni-Fontecedro A | ||||||||||||
| Title | A novel germline mutation of PDGFR-β might be associated with clinical response of colorectal cancer to regorafenib. | ||||||||||||
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| Molecular Profile | Treatment Approach |
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| Gene Name | Source | Synonyms | Protein Domains | Gene Description | Gene Role |
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| Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
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| Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
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| Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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| PDGFRB | A6V | missense | unknown | PDGFRB A6V lies within the signal peptide region of the Pdgfrb protein (UniProt.org). A6V has been identified in the scientific literature (PMID: 25336117), but has not been biochemically characterized and therefore, its effect on Pdgfrb protein function is unknown (PubMed, Mar 2026). |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PDGFRB A6V | colorectal cancer | predicted - sensitive | Regorafenib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with metastatic colorectal cancer harboring germline PDGFRB A6V demonstrated a partial morphological and metabolic response after 8 weeks of treatment with Stivarga (regorafenib) and remained in partial remission with sustained clinical improvement for at least 9 months from the start of treatment (PMID: 25336117). | 25336117 |