Gene Variant Detail

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Gene ERBB2
Variant R678Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB2 (HER2) R678Q lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). The functional effect of R678Q is conflicting, as it demonstrates phosphorylation levels and transformation potential comparable to wild-type Erbb2 (Her2) protein in cell culture and xenograft models (PMID: 29533785, PMID: 23220880), however, in other studies, results in increased phosphorylation of Erbb2 (Her2) and activation of downstream signaling, and is transforming in culture (PMID: 30449325, PMID: 31588020).
Associated Drug Resistance Y

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Transcript NM_004448
gDNA chr17:g.39723405G>A
cDNA c.2033G>A
Protein p.R678Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001289937 chr17:g.39723405G>A c.2033G>A p.R678Q RefSeq GRCh38/hg38
NM_004448 chr17:g.39723405G>A c.2033G>A p.R678Q 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 R678Q unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 R678Q Advanced Solid Tumor predicted - sensitive Neratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) R678Q demonstrated decreased cell proliferation and reduced survival when treated with Nerlynx (neratinib) in culture (PMID: 30449325). 30449325
ERBB2 R678Q Advanced Solid Tumor predicted - sensitive Trastuzumab Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) R678Q demonstrated decreased cell proliferation and reduced survival when treated with Herceptin (trastuzumab) in culture (PMID: 30449325). 30449325
ERBB2 R678Q Advanced Solid Tumor no benefit Gefitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) R678Q did not benefit from treatment with Iressa (gefitinib) in culture when compared to Erbb2 (Her2) inhibitors (PMID: 30449325). 30449325
ERBB2 R678Q colorectal cancer predicted - resistant Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in progressive disease with a progression-free survival of 1.6 months in a patient with colorectal cancer harboring ERBB2 (HER2) R678Q (PMID: 29420467; NCT01953926). 29420467
ERBB2 R678Q gastroesophageal junction adenocarcinoma predicted - resistant Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in progressive disease with a progression-free survival of 1.7 months in a patient with gastroesophageal cancer harboring ERBB2 (HER2) R678Q (PMID: 29420467; NCT01953926). 29420467
ERBB2 R678Q breast cancer sensitive Neratinib Preclinical Actionable In a preclinical study, transformed human breast cell lines expressing ERBB2 (HER2) R678Q demonstrated growth inhibition when treated with Nerlynx (neratinib) (PMID: 23220880). 23220880
ERBB2 R678Q Advanced Solid Tumor predicted - resistant Cetuximab Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) R678Q demonstrated resistance to treatment with Erbitux (cetuximab) in culture (PMID: 30449325). 30449325
ERBB2 R678Q endometrial cancer no benefit Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in stable disease with a progression-free survival of 5.5 months in a patient with endometrial cancer harboring ERBB2 (HER2) R678Q (PMID: 29420467; NCT01953926). 29420467
ERBB2 R678Q Advanced Solid Tumor predicted - sensitive Lapatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) R678Q demonstrated decreased cell proliferation and reduced survival when treated with Tykerb (lapatinib) in culture (PMID: 30449325). 30449325
ERBB2 R678Q Advanced Solid Tumor predicted - sensitive Afatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) R678Q demonstrated decreased cell proliferation and reduced survival when treated with Gilotrif (afatinib) in culture (PMID: 30449325). 30449325
ERBB2 R678Q Advanced Solid Tumor no benefit Erlotinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ERBB2 (HER2) R678Q did not benefit from treatment with Tarceva (erlotinib) in culture when compared to Erbb2 (Her2) inhibitors (PMID: 30449325). 30449325
ERBB2 R678Q breast cancer sensitive Lapatinib Preclinical Actionable In a preclinical study, transformed human breast cell lines expressing ERBB2 R678Q demonstrated growth inhibition when treated with Tykerb (lapatinib) (PMID: 23220880). 23220880