Fast Five Quiz: How Much Do You Know About the Genetics of Breast Cancer?

Maurie Markman, MD


December 29, 2020

The HER2 gene, also referred to as neu or ERBB2 (receptor tyrosine-protein kinase erbB-2), codes for a transmembrane tyrosine kinase receptor, a member of the epidermal growth factor receptor (EGFR) family. When activated, this receptor family causes an increase in activity of molecular pathways associated with tumor growth and progression. The HER2 gene is overexpressed in approximately 25% of invasive breast cancers worldwide and is associated with an adverse outcome.

BTK is a clinically significant finding because inhibitors of this enzyme are used to treat hematologic malignancies.

Mutations in the KRAS gene are implicated in the dysregulation of cell proliferation and thus the increased risk for cancers such as lung and colorectal cancer.

Although the presence of cytokine VEGF-A is associated with a poor prognosis in patients with breast cancer, it is not a product of the HER2 gene.

Learn more about expert views on genetic testing in women with breast cancer.


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