A NEJM study analyzed 692 patients with metastatic prostate cancer and found that 11.8% of patients had an inherited DNA-repair gene mutation. In localized prostate cancer, there was a 4.6% prevalence of an inherited gene mutation1. The breakdown of the mutations can be seen in the figure below taken from the original article.
So practically speaking, how does this translate your clinical practice if you find a mutation? The recommendation is to start screening for prostate cancer at the age of 45 for unaffected men who are carriers of the mutation. Additionally, if there is a mutation found, offer genetic screening to other family members. For those who are worried about their genetic information being used against them, there was a law passed called the Genetic Information Nondiscrimination Act (2008) (GINA) that states that it is unlawful for health insurers to use genetic information for eligibility for health insurance. Unfortunately, it does not protect against discrimination for life, long-term health or disability insurance. The next time you see someone in a clinic that falls into the higher risk category for a potential genetic mutation, please consider referring them for genetic counseling. This could very well lead to the initiation of life-saving screening measures for your patient and their family members.
Presented by: Ashely H. Woodson, MS, Senior Genetic Counselor in Clinical Cancer Genetics, MD Anderson Cancer Center, Houston, Texas
References:
1. Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, et al. Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. N Engl J Med. 2016;375(5):443-53.
Written by: Dr. Amy H. Lim, MD, PhD, Urologic Oncology Fellow with Ashish M. Kamat, MD, (@UroDocAsh), Professor of Urologic Oncology & Cancer Research, MD Anderson Cancer Center, Houston, TX at the 13th Update on the Management of Genitourinary Malignancies, The University of Texas (MDACC - MD Anderson Cancer Center) November 9-10, 2018, Dan L. Duncan Building, Houston, TX