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| Gene | ERBB3 |
| Variant | E928A |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | ERBB3 (HER3) E928A lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). E928A (reported as E909A) results in increased Erbb2 (Her2) activation in cell culture (PMID: 23843458), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB3 mutant ERBB3 act mut ERBB3 E928A |
| Transcript | NM_001982.4 |
| gDNA | chr12:g.56098849A>C |
| cDNA | c.2783A>C |
| Protein | p.E928A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001982.3 | chr12:g.56098849A>C | c.2783A>C | p.E928A | RefSeq | GRCh38/hg38 |
| NM_001982.4 | chr12:g.56098849A>C | c.2783A>C | p.E928A | RefSeq | GRCh38/hg38 |
| NM_001982 | chr12:g.56098849A>C | c.2783A>C | p.E928A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ERBB3 E928A | triple-receptor negative breast cancer | predicted - sensitive | Capecitabine + Trastuzumab | Case Reports/Case Series | Actionable | In a clinical case study, treatment with the combination of Herceptin (trastuzumab) and Xeloda (capecitabine) resulted in a partial response and reduction in circulating tumor markers, with clinical benefit ongoing after 10 months, in a triple-receptor negative breast cancer patient harboring ERBB3 (HER2) E928A who had previously progressed on several lines of therapy (PMID: 34250408). | 34250408 |