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Overview of hereditary breast and ovarian cancer syndromes

Beth N Peshkin, MS, CGC
Claudine Isaacs, MD
Section Editors
Anees B Chagpar, MD, MSc, MA, MPH, MBA, FACS, FRCS(C)
Barbara Goff, MD
Deputy Editor
Sadhna R Vora, MD


Most women with breast or ovarian cancer have a sporadic rather than an inherited cancer. However, the majority of women with inherited breast and/or ovarian cancers carry a deleterious mutation in one of two susceptibility genes, breast cancer susceptibility gene 1 (BRCA1) or breast cancer susceptibility gene 2 (BRCA2). Less commonly, breast cancer is due to other hereditary syndromes, such as Li-Fraumeni and Cowden syndromes, which are associated with mutations in the TP53 and PTEN genes, respectively (table 1).

This topic will present an overview of hereditary breast and ovarian cancer syndromes. However, details regarding who should be offered genetic risk evaluation as well as a more focused discussion of the BRCA1/2 (BRCA) mutation-associated hereditary breast and ovarian cancer syndrome are covered separately.

(See "Genetic counseling and testing for hereditary breast and ovarian cancer", section on 'Criteria for genetic risk evaluation'.)

(See "Management of patients at high risk for breast and ovarian cancer".)


Below we cover syndromes that confer high risks of breast and/or ovarian cancer, and other cancers. Specific management guidelines are available to manage patients with these syndromes.

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Literature review current through: Sep 2017. | This topic last updated: Sep 18, 2017.
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