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Management of patients at high risk for breast and ovarian cancer

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


The majority of patients with hereditary breast and ovarian cancers have mutations in either the breast cancer type 1 or 2 susceptibility genes (BRCA1 and BRCA2; referred in this topic as BRCA). Mutations in these genes are implicated in about 15 percent of women with familial breast cancer and a similar proportion of all women with incident ovarian cancers [1,2].

Less commonly, increased risks for breast cancer are associated with other hereditary conditions, such as Li-Fraumeni and Cowden syndromes, which are related to mutations in the TP53 and PTEN genes, respectively (see "PTEN hamartoma tumor syndrome, including Cowden syndrome" and "Li-Fraumeni syndrome"). In addition, mutations in other genes such as PALB2 and CHEK2 are associated with significantly increased risks of breast cancer (so called "moderate-risk" gene mutations).

Hereditary breast and ovarian cancer attributable to BRCA mutations is characterized by an autosomal-dominant pattern of inheritance, markedly increased susceptibility to breast and ovarian cancer, with an especially early onset of breast cancer, and an increased incidence of tumors of other organs, such as the fallopian tubes, prostate, male breast, and pancreas. However, not all patients with a family history of breast and/or ovarian cancer are found to have a hereditary basis of their familial disease. This topic discusses the management of patients with mutations in BRCA and moderate-risk genes, as well as those with familial breast and/or ovarian cancer who received negative or uninformative genetic testing results.

The selection of patients who should be offered genetic risk evaluation is discussed elsewhere. Cancer risks in mutation-positive patients and those without a familial history of breast and/or ovarian cancer with negative/uninformative results are discussed elsewhere. In addition, management for individuals with well-defined high-risk syndromes such as Li-Fraumeni syndrome and phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome is also discussed separately. Finally, the selection of appropriate candidates for genetic testing, the characteristics of hereditary breast and ovarian cancer syndromes, management of the ovarian cancer risk in high-risk women, and the genetic counseling process are discussed separately.

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

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Literature review current through: Nov 2017. | This topic last updated: Oct 11, 2016.
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