Gene Variant Detail

Gene ERBB2
Variant S310F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB2 (HER2) S310F lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). S310F confers a gain of function to Erbb2 (Her2) as indicated by increased phosphorylation of Erbb2 (Her2) and downstream signaling, colony formation, migration, transformation in cell culture (PMID: 22908275, PMID: 29533785, PMID: 29967253, PMID: 29954840), and enhanced tumor growth in mouse models (PMID: 29954840).
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39711955C>T
cDNA c.929C>T
Protein p.S310F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001289937 chr17:g.39711955C>T c.929C>T p.S310F RefSeq GRCh38/hg38
NM_004448 chr17:g.39711955C>T c.929C>T p.S310F 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 D277H ERBB2 S310F urinary bladder cancer sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) inhibited foci formation of bladder cancer cells over expressing both ERBB2 (HER2) D277H and S310F in culture (PMID: 24971884). 24971884
ERBB2 D277H ERBB2 S310F urinary bladder cancer decreased response Selumetinib Preclinical Actionable In a preclinical study, bladder cancer cells over expressing both ERBB2 (HER2) D277H and S310F demonstrated reduced sensitivity to Selumetinib (AZD6244) in culture (PMID: 24971884). 24971884
ERBB2 D277H ERBB2 S310F urinary bladder cancer sensitive Afatinib Preclinical Actionable In a preclinical study, Gilotrif (afatinib) inhibited foci formation of bladder cancer cells over expressing both ERBB2 (HER2) D277H and S310F in culture (PMID: 24971884). 24971884
ERBB2 D277G ERBB2 S310F urinary bladder 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 1.7 months in a patient with bladder cancer harboring both ERBB2 (HER2) D277G and S310F (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310F Advanced Solid Tumor sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) inhibited proliferation of transformed cells expressing ERBB2 S310F in culture (PMID: 22908275). 22908275
ERBB2 S310F colorectal cancer resistant Cetuximab Preclinical Actionable In a preclinical study, colorectal cancer cells over expressing ERBB2 (HER2) S310F were resistant to Erbitux (cetuximab) in culture (PMID: 26243863). 26243863
ERBB2 S310F urinary bladder cancer no benefit Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in stable disease in 4 patients and progressive disease in 1 patient with bladder cancer harboring ERBB2 (HER2) S310F (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310F biliary tract cancer no benefit Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in partial response in one and progressive disease in another patient with biliary tract cancer harboring ERBB2 (HER2) S310F (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310F 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 2.6 months in a patient with endometrial cancer harboring ERBB2 (HER2) S310F (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310F colorectal cancer conflicting 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 colorectal cancer harboring ERBB2 (HER2) S310F (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310F colorectal cancer conflicting Neratinib Preclinical Actionable In a preclinical study, Nerlynx (neratinib) inhibited growth of colorectal cancer cells over expressing ERBB2 (HER2) S310F in culture (PMID: 26243863). 26243863
ERBB2 S310F colorectal cancer resistant Panitumumab Preclinical Actionable In a preclinical study, colorectal cancer cells over expressing ERBB2 (HER2) S310F were resistant to Vectibix (panitumumab) in culture (PMID: 26243863). 26243863
ERBB2 S310F 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) S310F in culture (PMID: 26243863). 26243863
ERBB2 S310F 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) S310F in culture (PMID: 26243863). 26243863
ERBB2 S310F Her2-receptor negative breast cancer predicted - sensitive Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in complete response with a progression-free survival of 14.6 months in one patient, and stable disease with a progression-free survival of 3.7 months in another patient with Erbb2 (Her2) receptor negative (non-amplified) breast cancer harboring ERBB2 (HER2) S310F (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310F lung non-small cell carcinoma 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 1.9 months in a patient with non-small cell lung cancer harboring ERBB2 (HER2) S310F (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310F gastroesophageal junction adenocarcinoma 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 3.9 months in a patient with gastroesophageal cancer harboring ERBB2 (HER2) S310F (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310F urinary bladder cancer decreased response Selumetinib Preclinical Actionable In a preclinical study, bladder cancer cells over expressing ERBB2 (HER2) S310F demonstrated reduced sensitivity to Selumetinib (AZD6244) in culture (PMID: 24971884). 24971884
ERBB2 S310F Advanced Solid Tumor sensitive Neratinib Preclinical Actionable In a preclinical study, Nerlynx (neratinib) decreased cell survival of transformed human cells expressing ERBB2 (HER2) S310F (PMID: 22908275). 22908275
ERBB2 S310F colorectal cancer sensitive Afatinib Preclinical Actionable In a preclinical study, Gilotrif (afatinib) inhibited growth of colorectal cancer cells over expressing ERBB2 (HER2) S310F in culture (PMID: 26243863). 26243863
ERBB2 S310F urinary bladder cancer sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) inhibited foci formation of bladder cancer cells over expressing ERBB2 (HER2) S310F in culture (PMID: 24971884). 24971884
ERBB2 S310F urinary bladder cancer sensitive Afatinib Preclinical Actionable In a preclinical study, Gilotrif (afatinib) inhibited foci formation of bladder cancer cells over expressing ERBB2 (HER2) S310F in culture (PMID: 24971884). 24971884
ERBB2 S310F cervical cancer predicted - sensitive Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in partial response in 1 patient, stable disease in 1 patient, and progressive disease in 1 patient with cervical cancer harboring ERBB2 (HER2) D769N (PMID: 29420467; NCT01953926). 29420467
ERBB2 S310F ERBB2 G660D ampulla of Vater carcinoma predicted - sensitive Afatinib Case Reports/Case Series Actionable In a clinical case study, Gilotrif (afatinib) treatment resulted in stable disease with slight lymph node metastasis reduction in a patient with ampulla of Vater carcinoma harboring ERBB2 S310F and G660D, but the disease eventually progressed after 4 months (PMID: 29146616). 29146616
ERBB2 S310F ERBB2 V842I breast cancer predicted - sensitive Neratinib Phase II Actionable In a Phase II trial, Nerlynx (neratinib) demonstrated activity in metastatic breast cancer patients harboring ERBB2 (HER2) mutations, resulting in a clinical benefit rate of 31% (5/16), with 1 complete response, 1 partial response, and 3 patients achieving stable disease for 24 weeks or more, which included a patient harboring ERBB2 (HER2) S310F and V842I (PMID: 28679771). 28679771
ERBB2 amp ERBB2 S310F lung adenocarcinoma predicted - sensitive Ado-trastuzumab emtansine Case Reports/Case Series Actionable In a Phase II trial, treatment with Kadcyla (trastuzumab emtansine) resulted in best overall responses of partial response in 44% (8/18) and stable disease in 39% (7/18), and median progression-free survival of 5 months in patients with lung adenocarcinoma harboring ERBB2 (HER2) activating mutations; a patient harboring ERBB2 (HER2) S310F and ERBB2 (HER2) amplification had a partial response (PMID: 29989854; NCT02675829). 29989854