Gene Variant Detail

Gene ERBB2
Variant act mut
Impact List unknown
Protein Effect gain of function
Gene Variant Descriptions ERBB2 (HER2) act mut indicates that this variant results in a gain of function in the Erbb2 (Her2) protein. However, the specific amino acid change has not been identified.
Associated Drug Resistance

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No Variant Reference Transcript is Available.
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Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
ERBB2 act mut gain of function HER inhibitor (Pan) HER2 Inhibitor
ERBB2 act mut STK11 loss
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 act mut breast cancer sensitive Neratinib Phase II Actionable In a Phase II clinical trial, Nerlynx (neratinib) treatment resulted in clinical benefit in 36% (5/14) of metastatic breast cancer patients harboring ERBB2 (HER2) activating mutations, with 1 complete response, 1 partial response, and 2 patients achieving stable disease for greater than 6 months, and a median progression-free survival of 5 months (J Clin Oncol 34, 2016 (suppl; abstr 516)). detail...
ERBB2 act mut Advanced Solid Tumor sensitive AEE788 Preclinical Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) activation loop mutations demonstrated sensitivity to AEE788 in culture (PMID: 22046346). 22046346
ERBB2 act mut Advanced Solid Tumor predicted - sensitive Pertuzumab + Trastuzumab Phase II Actionable In a Phase II trial (MyPathway), Herceptin (trastuzumab) and Perjeta (pertuzumab) combination treatment resulted in objective response in 11% (4/36) of patients with advanced solid tumors harboring ERBB2 (HER2) activating mutations but not amplification or overexpression (PMID: 29320312; NCT02091141). 29320312
ERBB2 act mut lung non-small cell carcinoma predicted - sensitive Pertuzumab + Trastuzumab Phase II Actionable In a Phase II trial (MyPathway), Herceptin (trastuzumab) and Perjeta (pertuzumab) combination treatment resulted in partial response in 21% (3/14) and stable disease lasting over 120 days in 21% (3/14) of patients with non-small cell lung cancer harboring ERBB2 (HER2) activating mutations but not amplification or overexpression (PMID: 29320312; NCT02091141). 29320312
ERBB2 act mut estrogen-receptor positive breast cancer predicted - sensitive Vistusertib Phase I Actionable In a Phase I trial, Vistusertib (AZD2014) demonstrated safety and preliminary efficacy in patients with advanced solid tumors, including a patient with ER-positive breast cancer harboring an ERBB2 activating mutation (PMID: 25805799). 25805799
ERBB2 act mut biliary tract cancer predicted - sensitive Pertuzumab + Trastuzumab Case Reports/Case Series Actionable In a Phase II trial (MyPathway), Herceptin (trastuzumab) and Perjeta (pertuzumab) combination treatment resulted in an objective response in a patient with biliary cancer harboring an ERBB2 (HER2) activating mutation, but no amplification or overexpression (PMID: 29320312; NCT02091141). 29320312
ERBB2 act mut lung adenocarcinoma predicted - sensitive Ado-trastuzumab emtansine Phase II Actionable In a Phase II trial, treatment with Kadcyla (trastuzumab emtansine) resulted in best overall response rates of 44% (8/18) and 39% (7/18) partial response and stable disease, respectively, and median progression-free survival of 5 months in patients with lung adenocarcinoma harboring ERBB2 (HER2) activating mutations (PMID: 29989854; NCT02675829). 29989854
ERBB2 act mut STK11 loss breast cancer sensitive AZD8055 Preclinical Actionable In a preclinical study, AZD8055 inhibited tumor growth in a mouse model of spontaneous breast cancer harboring an ERBB2 (HER2) activating mutation and loss of STK11 (LKB1), which was enhanced by the addition of 2-DG (2-deoxyglucose) (PMID: 25436981). 25436981