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| Gene | ERBB3 |
| Variant | P262H |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ERBB3 (HER3) P262H lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). P262H confers a gain to Erbb3 (Her3) as demonstrated by increased downstream signaling and transformation of Erbb2 (Her2) expressing cells in culture, and tumor growth in a mouse model co-expressing Erbb2 (Her2) (PMID: 23680147) |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB3 mutant ERBB3 act mut ERBB3 P262H |
| Transcript | NM_001982.4 |
| gDNA | chr12:g.56088073C>A |
| cDNA | c.785C>A |
| Protein | p.P262H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001982.4 | chr12:g.56088073C>A | c.785C>A | p.P262H | RefSeq | GRCh38/hg38 |
| NM_001982 | chr12:g.56088073C>A | c.785C>A | p.P262H | RefSeq | GRCh38/hg38 |
| NM_001982.3 | chr12:g.56088073C>A | c.785C>A | p.P262H | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ERBB3 P262H | Advanced Solid Tumor | sensitive | Lapatinib | Preclinical | Actionable | In a preclinical study, Tykerb (lapatinib) inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) P262H (PMID: 23680147). | 23680147 |
| ERBB3 P262H | Advanced Solid Tumor | sensitive | Duligotuzumab | Preclinical | Actionable | In a preclinical study, MEHD7945A inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) P262H (PMID: 23680147). | 23680147 |
| ERBB3 P262H | Advanced Solid Tumor | sensitive | Trastuzumab | Preclinical | Actionable | In a preclinical study, Herceptin (trastuzumab) inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) P262H (PMID: 23680147). | 23680147 |
| ERBB3 P262H | Advanced Solid Tumor | sensitive | Pertuzumab | Preclinical | Actionable | In a preclinical study, Perjeta (pertuzumab) inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) P262H (PMID: 23680147). | 23680147 |
| ERBB3 P262H | Advanced Solid Tumor | resistant | Cetuximab | Preclinical | Actionable | In a preclinical study, transformed cell lines expressing ERBB3 (HER3) P262H demonstrated resistance to treatment with Erbitux (cetuximab) (PMID: 23680147). | 23680147 |
| ERBB3 P262H | Advanced Solid Tumor | sensitive | Pictilisib | Preclinical | Actionable | In a preclinical study, the PI3K inhibitor GDC-0941 inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) P262H (PMID: 23680147). | 23680147 |
| ERBB3 P262H | Advanced Solid Tumor | sensitive | Mirdametinib + Pictilisib | Preclinical | Actionable | In a preclinical study, the combination of GDC-0941 and Gomekli (mirdametinib) inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) P262H (PMID: 23680147). | 23680147 |
| ERBB3 P262H | breast cancer | sensitive | Patritumab deruxtecan | Preclinical - Cell culture | Actionable | In a preclinical study, Patritumab deruxtecan (U3-1402) treatment inhibited growth of a breast cancer cell line expressing ERBB3 (HER3) P262H in culture (PMID: 35503762). | 35503762 |