How is genetic risk for ovarian cancer assessed?

Diljeet K. Singh, MD
Gynecologic Oncology
Genetic risk for ovarian cancer is assessed by meeting with a genetic expert to create a family tree, then undergoing DNA testing. In this video, I will explain how this risk assessment is typically conducted.
David A. Fishman, MD
Gynecologic Oncology
In the primary genetics risk assessment for ovarian cancer, the patient's family history and personal history with respect to cancers are evaluated. Testing is usually carried out if an individual meets certain criteria. The National Comprehensive Cancer Network (NCCN) provides a guideline to be followed when determining if an individual should undergo risk assessment.

Some of the criteria listed by the NCCN includes: an individual from a family with a known breast cancer gene 1 (BRCA1) or breast cancer gene 2 (BRCA2) mutation; a personal history of epithelial ovarian, fallopian tube, or primary peritoneal cancer; a personal history of breast and/or ovarian cancer at any age with two close blood relatives (first-, second- or third-degree relatives) with pancreatic cancer at any age; and a family history of breast and/or ovarian, fallopian tube, or primary peritoneal cancer as criteria for a hereditary ovarian cancer syndrome testing. If an individual meets any of the criteria presented by the NCCN, a referral for genetic assessment is recommended.

Cancer screening tests and genetic counseling is a multi-step process in determining an individual's lifetime risk of developing familial or hereditary syndromes and/or cancer. A detailed family history is key in carrying out an efficient risk assessment. Cancer diagnoses in the family are verified by medical records, pathology reports and death certificates, whenever possible. The collected family history of an individual is then documented on a pedigree to illustrate family relationships (first-, second-, third-degree relatives) and disease information.

Following family history, medical and surgical information from the patient's personal history is collected. The collection of an individual's personal medical history allows a counselor to evaluate the likelihood that other risk factors may exist. These other risk factors may be associated with inherited syndromes that affect a patient's risk of ovarian cancer. In some cases, a physical examination may be included in a risk assessment. If involved, the physical examination primarily focuses on the specific organs of a patient that can be affected by a particular hereditary cancer syndrome.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.