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Overview of hereditary breast and ovarian cancer syndromes

Most females with breast or ovarian cancer have a sporadic rather than an inherited cancer. Although the majority of females with inherited breast and/or ovarian cancers carry a pathogenic variant (ie, deleterious or harmful mutation) in the breast cancer susceptibility gene 1 (BRCA1) or breast cancer susceptibility gene 2 (BRCA2), some hereditary breast cancers are due to other rare hereditary syndromes, such as Li-Fraumeni and Cowden syndromes, which are associated with pathogenic variants in the tumor protein p53 (TP53) and phosphatase and tensin homolog tumor suppressor (PTEN) genes, respectively. Pathogenic variants in other genes also confer a heightened risk of breast and/or ovarian cancer.

This topic will present an overview of hereditary breast and ovarian cancer syndromes and risk reduction for breast and gynecologic cancers. However, risk reduction of other cancers associated with pathogenic variants in high-penetrance genes, as well as many of the moderate-penetrance genes, is discussed in other dedicated topics. In such instances, relevant links are provided in the sections below.

Additionally, details regarding who should be offered genetic risk evaluation, how the diagnosis of these syndromes should be made, as well as a more focused discussion of the BRCA1/2-associated hereditary breast and ovarian cancer syndromes are covered separately.

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