The prevalence of BRCA gene mutations is 0.2-0.3% in the general population, but in the Ashkenazi Jewish population, it is as high as 2.5-3.0%. As such, the group from Rabin Medical Center in Israel have established a novel male BRCA clinic, in which men are prospectively enrolled once identified to have a germline mutation and undergo screening for multiple malignancies, including prostate cancer, pancreatic cancer, male breast cancer, melanoma, squamous cell carcinoma, renal cell carcinoma, Thyroid cancer, and Hodgkin’s disease.
Their screening protocol is listed below, though in discussion with the author, they have now begun to screen all new patients with MR prostate. Indeed, he is considering moving to MRI as the primary mode of surveillance for these patients, but more data is needed prior to that change.
In a 2-year period (2014-2016), 207 men were evaluated, including 146 known BRCA mutation carriers and 61 men who underwent genetic counselling and testing, 8 of whom were found to be BRCA carriers – a total of 154 men with BRCA mutations were included. 92 men (60%) had a BRCA1 mutation and 61 (40%) a BRCA2 mutation. One patient had a mutation in both BRCA types. Patients ≥ 40 years of age were screened for the above malignancies. They then reported the patient characteristics, type and prevalence of tumors identified upon enrollment to the clinic and during the initial screening.
Median age at enrollment was 50 years (IQR 42-63). All patients had a family history of cancer (1-10 cases per family). A total of 24 patients (16%) were diagnosed with cancer upon enrollment or during initial screening. Median age at cancer diagnosis was 55 years (IQR 44, 64). Four patients had multiple malignancies (2-4 cases per patient). Figure 1 summarizes cancer type and rate stratified by mutation type.
The most common malignancy was prostatic adenocarcinoma identified in 7/93 patients with BRCA1 mutation (8%), and 3/62 patients with BRCA2 (5%). Overall, 16/24 patients (67%) were surgically treated for their cancer.
Dr. Patrick Walsh, during the Q&A session, did point out that there is some data that the genetic mutations leading to BRCA positivity in the Ashkenazi population may be different than those seen in other populations; hence the clinical progression may be slightly different.
Dr. Margel notes that they have now started a biorepository on this population and are open to collaboration.
As only two years of follow-up have been achieved, expect the data to enrich in the next few years. This novel clinic will likely lead to significantly more knowledge about BRCA and its role in cancer development and prognosis in men. In specific, it will likely affect prostate cancer management in men with BRCA mutations.
Presented by: David Margel
Co-authors: Mano R., Benjaminov O., Kedar I., Ozalvo R., Sela S., Ber Y., Baniel J.
1. Rabin Medical Center, Dept. of Urology, Petah Tikva, Israel
2. Rabin Medical Center, Dept. of Imaging, Petah Tikva, Israel
3. Rabin Medical Center, The Raphael Recanati Genetics Institute, Petah Tikva, Israel
Written by: Thenappan Chandrasekar , Clinical Fellow, University of Toronto
at the #EAU17 -March 24-28, 2017- London, England