New Guidelines Recommend Genetic Testing for Men with Prostate Cancer

Last week, on Thursday, March 8, while the focus was on 23andMe and genetic testing related to breast cancer, the National Comprehensive Cancer Network (NCCN) published new Clinical Practice Guidelines for Prostate Cancer. The new NCCN guidelines indicate that genetic counseling and testing should be considered for all men with high-risk, very high-risk, regional, or metastatic prostate cancer.

A personal history of metastatic prostate cancer was added last year (Oct 2017) to NCCN Guidelines for Hereditary Breast and Ovarian Cancer as testing criteria even in the absence of any family history of other HBOC-related cancers. The NCCN Prostate Cancer Guidelines also highlight the role of tumor testing, specifically mention the testing of homologous recombination genes, and discuss treatment implications of both tumor testing and genetic testing results.

The new NCCN guidelines cite an August 2016 study in which 11.8% of men with metastatic prostate cancer, 6.0% of men with localized high risk prostate cancer and 2% of men with low-to-intermediate risk prostate cancer were found to have inherited homologous recombination gene mutations. “Therefore, germline genetic testing and genetic counseling should be considered in all men with high risk, very high risk, regional, or metastatic prostate cancer.”

Homologous recombination genes are those involved in an important type of DNA repair. The BRCA genes are one example.

These NCCN updates come on the heels of new consensus recommendations on genetic counseling and testing for prostate cancer that were published in the Journal of Clinical Oncology (Feb 2018 in print and Dec 2017 online). The consensus guidelines were published following a March 2017 multidisciplinary conference of 71 experts involved in prostate cancer early detection, treatment, genetic counseling, clinical cancer genetics, research, bioethics, and advocacy, along with patient advocates. Consensus recommendations included testing of not only the BRCA genes but also HOXB13 (associated with hereditary prostate cancer) and the Lynch syndrome genes–depending on family history.  

The Consensus Conference also highlighted the importance of cancer family history: “Along with strategies for making it more straightforward to refer a patient to a genetic counselor, the experts also encouraged urologists to take detailed family histories of men diagnosed with prostate cancer to flag family members affected by prostate, breast, colorectal, or other cancer types.”

The Consensus Conference also provided a definition of genetic counseling: “Genetic counseling is a dynamic process in which trained cancer genetic counseling professionals perform detailed intake of personal history and family cancer history, discuss genetic inheritance of cancer and genetic test options, address implications of genetic test results with patients and their families, and clarify patient preferences regarding genetic testing to make an informed decision for proceeding with testing.”

For Patients

  • If you have advanced prostate cancer, ask your doctor about genetic testing and a possible referral to genetic counseling.
  • If you have prostate cancer that is not advanced but have a family history of cancer–also talk to your doctor about possible genetic testing and a referral to genetic counseling.
  • Your doctor should be able to discuss with you how the results of genetic testing may impact your treatment options for prostate cancer.
  • A genetic counselor can evaluate your personal and family history of cancer, discuss with you which hereditary cancer syndromes should be considered and why, and talk with you about the implications of any test results not only for your own healthcare but also for your family members.

For basic background information on cancer genetics and hereditary cancer, check out this page. If you’re wondering if you meet criteria for genetic testing, you can take this quiz. If you choose to share your results with us, we’ll follow up with you!


For Healthcare Providers

NCCN guidelines for metastatic prostate cancer:

  • Consider tumor testing for MSI-H or dMMR
    • If MSI-H or dMMR is found, refer to genetic counseling to assess for possibility of Lynch syndrome.
    • MSI-H or dMMR status indicate eligibility for pembrolizumab in later lines of treatment for CRPC.
  • Consider genetic counseling and germline testing for homologous recombination gene mutations BRCA1, BRCA2, ATM, PALB2, FANCA. Refer to genetic counseling if positive.
    • This information may be used for genetic counseling, early use of platinum chemotherapy, or eligibility for clinical trials (ex. PARP inhibitors).

Philadelphia Prostate Cancer Consensus Conference:

  • Depending on family history, genes tested should include BRCA1, BRCA2, HOXB13, and DNA mismatch repair genes associated with Lynch syndrome (EPCAM, PMS2, MSH2, MLH1, and MSH6) Genetic counseling was also recommended.

Looking for a better understanding of germline v. somatic testing? Questions about a particular case? Email me. I’d be happy to discuss.


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