Quest — Quest Summer/Fall 2017
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Incorporating Genetic Testing Into Prostate Cancer Guidelines

Heritable genetic mutations are important in prostate cancer because they are related to the development of the disease, and certain mutations increase the risk for more aggressive cancer.

Dr. Catalona and his research team have been directly involved in identifying some of the genetic variations known to be associated with prostate cancer, as well as in validating other researchers’ discoveries. Dr. Catalona’s ongoing major research project through the Specialized Project of Research Excellence (SPORE) aims to identify which genetic mutations indicate if a man is a good candidate for active surveillance—or if he is likely to “fail” active surveillance.

National guidelines and genetic testing

Currently, most prostate cancer national guidelines that address genetic testing do not include the majority of germline genetic mutations known to be associated with prostate cancer. For example, the National Comprehensive Cancer Network (NCCN) guidelines only discuss BRCA1/2 testing.

Research presented at the American Society for Clinical Oncology Annual Meeting found that current guidelines excluded a large proportion of people and families that would benefit from germline genetic testing.1 The study included 199 patients with prostate cancer who tested positive for a germline genetic variant known to be associated with prostate cancer. However, only 63% of those patients would have qualified for genetic testing under current guidelines.

A new consensus guideline on testing in the clinic

The Prostate Cancer International Consensus Conference wrote a consensus guideline earlier this year to recommend how and when genetic testing should be used in the clinic. Their guidelines include recommendations such as considering genetic testing if you have a first-degree relative (father or brother) who was diagnosed with prostate cancer or died of the disease when they were younger. Also, men with first-degree relatives with hereditary breast or ovarian cancer, or Lynch syndrome should consider genetic testing. The consensus states that patients should be part of the shared decision-making for genetic testing, and patients who test positive for BRCA2 and HOXB13 mutations should consider this when determining PSA screening intervals.

The statement considers family history of breast and ovarian cancers, stressing the importance of taking a full family history into account, including medical history of women in the family. Breast and ovarian cancers can be hereditary—and share germline mutations with prostate cancer.

The consensus statement was presented at the Society of Urologic Oncology 2017 AUA Annual Meeting in May.

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