Gene Variant Detail

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Gene ERBB2
Variant S310Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB2 (HER2) S310Y lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). S310Y confers a gain of function to Erbb2 (Her2) as indicated by increased downstream p-AKT and p-ERK signaling, colony formation, migration, and transformation potential in cell culture (PMID: 22908275, PMID: 29967253; PMID: 29954840), increased cell proliferation and cell viability as compared to wild-type Erbb2 (Her2) in one of two cell lines (PMID: 29533785), and enhanced tumor growth in mouse models (PMID: 29954840).
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39711955C>A
cDNA c.929C>A
Protein p.S310Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001289937 chr17:g.39711955C>A c.929C>A p.S310Y RefSeq GRCh38/hg38
NM_004448 chr17:g.39711955C>A c.929C>A p.S310Y 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 S310Y gain of function HER inhibitor (Pan) HER2 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 S310Y colorectal cancer resistant Cetuximab Preclinical Actionable In a preclinical study, xenograft models of patient derived colorectal cancer cells harboring ERBB2 (HER2) S310Y were resistant to Erbitux (cetuximab) (PMID: 26243863). 26243863
ERBB2 S310Y colorectal cancer sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) delayed tumor growth in xenograft models of patient derived colorectal cancer cells harboring ERBB2 (HER2) S310Y (PMID: 26243863). 26243863
ERBB2 S310Y 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 9.6 months in a patient with endometrial cancer harboring ERBB2 (HER2) S310Y (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310Y 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 0.8 month in a patient with gastroesophageal cancer harboring ERBB2 (HER2) S310Y (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310Y colorectal cancer sensitive Lapatinib + Trastuzumab Preclinical Actionable In a preclinical study, Herceptin (trastuzumab) and Tykerb (lapatinib) combination treatment resulted in tumor regression in xenograft models of patient derived colorectal cancer cells harboring ERBB2 (HER2) S310Y (PMID: 26243863). 26243863
ERBB2 S310Y cervical 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 0.5 month in a patient with cervical cancer harboring ERBB2 (HER2) S310Y (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310Y lung squamous cell carcinoma predicted - sensitive Afatinib Case Reports/Case Series Actionable In a clinical case study, Gilotrif (afatinib) treatment resulted in stable disease over 8-months in a patient with advanced squamous cell lung carcinoma harboring ERBB2 (HER2) S310Y (PMID: 30584328). 30584328
ERBB2 S310Y colorectal cancer sensitive Neratinib Preclinical Actionable In a preclinical study, Nerlynx (neratinib) delayed tumor growth in xenograft models of patient derived colorectal cancer cells harboring ERBB2 (HER2) S310Y (PMID: 26243863). 26243863
ERBB2 S310Y urinary bladder cancer no benefit Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in stable disease in 2 patients and progressive disease in 2 patients with bladder cancer harboring ERBB2 (HER2) S310Y (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310Y colorectal cancer sensitive Neratinib + Trastuzumab Preclinical Actionable In a preclinical study, Herceptin (trastuzumab) and Nerlynx (neratinib) combination treatment resulted in tumor regression in xenograft models of patient derived colorectal cancer cells harboring ERBB2 (HER2) S310Y (PMID: 26243863). 26243863
ERBB2 S310Y colorectal cancer sensitive Trastuzumab Preclinical Actionable In a preclinical study, Herceptin (trastuzumab) delayed tumor growth in xenograft models of patient derived colorectal cancer cells harboring ERBB2 (HER2) S310Y (PMID: 26243863). 26243863