Ovarian cancer genetic risks

Approximately one in 70 American women will develop ovarian cancer during her lifetime.  In most instances, the cause is unknown, but for one in 10 women with ovarian cancer, an inherited predisposition may be involved.  Genetic risk assessment for ovarian cancer should be considered if a woman:  

• Has been diagnosed with ovarian cancer and is of Ashkenazi Jewish descent
• Has been diagnosed with ovarian cancer and another cancer, such as breast, pancreatic, melanoma, colon or stomach
• Has family members with any of the above
• Has male relatives with breast or prostate cancer

An inherited predisposition to various cancers often occurs as part of a broader hereditary cancer syndrome.  Several hereditary ovarian cancer syndromes have been described, including:

• Hereditary site-specific ovarian cancer
• Hereditary ovarian/breast cancer syndrome
• Hereditary nonpolyposis colon cancer syndrome (HNPCC)
• Gorlin syndrome
• Peutz-Jeghers syndrome

Each of these syndromes is associated with the inheritance of a mutation in a single gene, which confers increased risks for a particular spectrum of cancers. Genetic risk assessment and, in many cases, genetic testing can be used to diagnose these syndromes.  The BRCA1 and BRCA2 genes are the most common ovarian cancer susceptibility genes. 

Advantages of knowing you are at increased risk

• Targeted detection strategies may help to identify cancers (ovarian and others) at an early stage, when treatment is more likely to be successful 
• Prevention options may exist for certain kinds of cancer
• Identification of a genetic predisposition may allow other family members to clarify their own risk

How to find out if you are at increased risk

A genetic evaluation is a multi-step process that includes:

• A review of your medical and family history
• A physical examination for signs of a specific hereditary syndrome
• Education and genetic counseling
• Discussion of the risks, benefits and limitations of appropriate genetic tests
• Interpretation of genetic test results
• Discussion of options for early cancer detection and risk reduction