ERBB2 gene detection standard

ERBB2 (also known as HER2, p185) is a transmembrane glycoprotein with receptor tyrosine kinase (RTKs) activity and belongs to the epidermal growth factor receptor (EGFR) family, also known as epidermal growth factor receptor 2 (HER2). The family includes HER1 (erbB1, EGFR), HER2 (erbB2, NEU), HER3 (erbB3) and HER4 (erbB4), which also belong to the receptor tyrosine kinase family. ERBB2 has no ligand-binding domain, but can form heterodimers with family members to bind ligands such as epidermal growth factor (EGF), thereby activating downstream proteins such as MAPK and PI3K through phosphorylation. When the ERBB2 gene is amplified and the protein is overexpressed, it can directly induce ERBB2 to form homodimers or heterodimers without ligand activation, activate receptor tyrosine kinases, activate downstream signaling pathways, and promote tumor cell proliferation and growth. invasion and metastasis.

Overexpression of ERBB2 is found in a variety of tumors, most commonly breast and ovarian cancers. In normal adult tissues, HER2 is usually underexpressed or not expressed. Overexpression of HER2 often leads to disturbance of normal biological functions.

Fig 1. ERBB2 signaling pathway

ERBB2 Mutation

The activation mechanism of ERBB2 oncogene is ERBB2 gene amplification, ERBB2 overexpression and ERBB2 gene mutation. The somatic mutation of ERBB2 gene mostly occurs in its kinase domain. Almost all ERBB2 gene insertion mutations occur in lung cancer, and other common mutations include c.929C>T, c.2329G>T; point mutations include c.2326G>A, c.2570A>G, etc. ERBB2 gene overexpression is associated with bladder cancer, breast cancer, lung cancer, cervical squamous cell carcinoma, childhood medulloblastoma, colorectal cancer, cholangiocarcinoma, osteosarcoma, pancreatic cancer, prostate cancer, salivary adenoma, ovarian cancer, etc. The occurrence, development and prognosis of various tumors are related.

The expression of ERBB2 has been detected in other hematological malignancies such as acute lymphoblastic leukemia (ALL). The expression level of ERBB2 gene mRNA was positively correlated with the efficacy of clinical targeted drugs trastuzumab or lapatinib.

We can provide diagnostic standards for various types of ERBB2 mutations to ensure the detection limit, sensitivity and stability of the diagnostic method.

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