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

Maurie Markman, MD


December 29, 2020

Mutations in the PTEN gene are responsible for the development of Cowden disease (CD). Patients with CD have a lifetime risk of developing breast cancer that ranges from 25% to 50%. CD is commonly associated with several benign breast abnormalities, including fibroadenomas, fibrocystic breast disease, ductal epithelial hyperplasia, and nipple malformations. This syndrome is also associated with intestinal hamartoma, cutaneous lesions, and thyroid cancer.

Mutations in the NRAS gene are associated with melanomas, lung cancer, and hematologic cancers.

Mutations in BRAF are implicated in several cancers, including non-Hodgkin's lymphoma, colorectal cancer, and melanoma.

BCR/ABL1 is a fusion gene found in most patients with chronic myelogenous leukemia; it is also found in some patients with acute lymphoblastic leukemia or acute myelogenous leukemia.

Learn more about the association of genetic mutations with breast cancer.


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