Gene Variant Detail

Gene ERBB2
Variant L866M
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB2 (HER2) L866M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L866M results in constitutive phosphorylation of Erbb2 (Her2) and increased phosphorylation of Mapk in cell culture (PMID: 26243863).
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39725151C>A
cDNA c.2596C>A
Protein p.L866M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001289937 chr17:g.39725151C>A c.2596C>A p.L866M RefSeq GRCh38/hg38
NM_004448 chr17:g.39725151C>A c.2596C>A p.L866M RefSeq GRCh38/hg38

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"

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Molecular Profile Protein Effect Treatment Approaches
ERBB2 L866M gain of function HER inhibitor (Pan) HER2 Inhibitor
ERBB2 amp ERBB2 L866M
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 L866M colorectal cancer resistant Cetuximab Preclinical Actionable In a preclinical study, colorectal cancer cells over expressing ERBB2 (HER2) L866M were resistant to Erbitux (cetuximab) in culture (PMID: 26243863). 26243863
ERBB2 L866M colorectal cancer sensitive Neratinib Preclinical Actionable In a preclinical study, Nerlynx (neratinib) inhibited growth of colorectal cancer cells over expressing ERBB2 (HER2) L866M in culture (PMID: 26243863). 26243863
ERBB2 L866M colon cancer sensitive Trastuzumab Preclinical Actionable In a preclinical study, Herceptin (trastuzumab) inhibited colony formation in transformed mouse colon epithelial cells over expressing ERBB2 (HER2) L866M in culture (PMID: 26243863). 26243863
ERBB2 L866M colorectal cancer sensitive Afatinib Preclinical Actionable In a preclinical study, Gilotrif (afatinib) inhibited growth of colorectal cancer cells over expressing ERBB2 (HER2) L866M in culture (PMID: 26243863). 26243863
ERBB2 L866M colon cancer sensitive Neratinib Preclinical Actionable In a preclinical study, Nerlynx (neratinib) inhibited colony formation in transformed mouse colon epithelial cells over expressing ERBB2 (HER2) L866M in culture (PMID: 26243863). 26243863
ERBB2 L866M colorectal cancer resistant Panitumumab Preclinical Actionable In a preclinical study, colorectal cancer cells over expressing ERBB2 (HER2) L866M were resistant to Vectibix (panitumumab) in culture (PMID: 26243863). 26243863
ERBB2 amp ERBB2 L866M colorectal cancer resistant Cetuximab Preclinical Actionable In a preclinical study, xenograft models of patient derived colorectal cancer cells harboring ERBB2 (HER2) L866M and ERBB2 (HER2) amplification were resistant to Erbitux (cetuximab) (PMID: 26243863). 26243863
ERBB2 amp ERBB2 L866M colorectal cancer sensitive Neratinib + Trastuzumab Preclinical Actionable In a preclinical study, Herceptin (trastuzumab) and Nerlynx (neratinib) combination treatment resulted in sustained tumor regression in xenograft models of patient derived colorectal cancer cells harboring ERBB2 (HER2) L866M and ERBB2 (HER2) amplification (PMID: 26243863). 26243863
ERBB2 amp ERBB2 L866M colorectal cancer sensitive Neratinib Preclinical Actionable In a preclinical study, Nerlynx (neratinib) treatment resulted in stable tumor size in xenograft models of patient derived colorectal cancer cells harboring ERBB2 (HER2) L866M and ERBB2 (HER2) amplification (PMID: 26243863). 26243863
ERBB2 amp ERBB2 L866M colorectal cancer resistant Trastuzumab Preclinical Actionable In a preclinical study, Herceptin (trastuzumab) had no effect on tumor growth in xenograft models of patient derived colorectal cancer cells harboring ERBB2 (HER2) L866M and ERBB2 (HER2) amplification (PMID: 26243863). 26243863