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Hereditary breast and ovarian cancer

Key sources
The following summarized guidelines for the evaluation and management of hereditary breast and ovarian cancer are prepared by our editorial team based on guidelines from the U.S. Preventive Services Task Force (USPSTF 2014) and the National Society of Genetic Counselors (NSGC 2013).
1
2

Guidelines

1.Screening and diagnosis

Indications for screening
As per USPSTF 2014 guidelines:
Screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with 1 of several screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes such as BRCA1 or BRCA2.
B
Avoid routine BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes.
D
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2.Diagnostic investigations

Genetic testing: consult published guidelines regarding the appropriateness of genetic testing, and address a more tailored approach to medical management.

More topics in this section

  • Risk assessment

3.Patient education

Genetic counseling
As per USPSTF 2014 guidelines:
Provide genetic counseling and, if indicated after counseling, BRCA testing for women with positive screening results.
B
Avoid routine genetic counseling for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes.
D