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Hematol Oncol Clin North Am. 2010 Oct;24(5):799-814. doi: 10.1016/j.hoc.2010.06.004.

Breast cancer predisposition syndromes.

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Department of Medicine, Hospital of the University of Pennsylvania, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA.


A small, but important, percentage of breast cancer cases is caused by the inheritance of a single copy of a mutated gene. BRCA1 and BRCA2 are the genes most commonly associated with inherited breast cancer; however, mutations in TP53 and PTEN cause Li-Fraumeni syndrome and Cowden syndrome, respectively, both of which are associated with high lifetime risks of breast cancer. Advances in the field of breast cancer genetics have led to an improved understanding of detection and prevention strategies. More recently, strategies to target the underlying genetic defects in BRCA1- and BRCA2-associated breast and ovarian cancers are emerging and may have implications for certain types of sporadic breast cancer.

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