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Malignancies in Male BRCA Mutation Carriers – Results from a Prospectively Screened Cohort of Patients Enrolled to a Dedicated Male BRCA Clinic

Abstract: PD07-10
Sources of Funding: The study was funded by the ASCO career development award, Israel Cancer Association, and German Israeli Foundation.

Introduction

There is an increased risk of various cancers, and especially prostate cancer, among men with germline mutations in BRCA genes. However, thus far there are no cancer screening guidelines for this population. _x000D_ We report cancer rate and type in a prospectively screened cohort of patients enrolled to a dedicated male BRCA clinic. _x000D_

Methods

Between February 2014 and July 2016 we evaluated 207 men at our male BRCA clinic: 146 known BRCA mutation carriers and 61 men who underwent genetic counselling, 8 of whom were found to be BRCA carriers._x000D_ Patients ≥ 40 years of age were screened for prostate, breast, colorectal, pancreatic and skin malignancies using a standard protocol. _x000D_ We report patient characteristics, type and prevalence of tumors identified upon enrollment to the clinic and during the initial screening._x000D_

Results

A total of 154 BRCA mutation carriers comprised the study cohort; 92 men (60%) had a BRCA1 mutation and 61 (40%) a BRCA2 mutation. One patient had a mutation in both BRCA types. Common mutations were 185delAG in BRCA1 (69/93, 74%) and 6174delIT in BRCA2 (51/62, 82%). Median age at enrollment was 50 years (IQR 42, 63). All patients had a family history of cancer (1-10 cases per family)._x000D_ 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.

Conclusions

Malignancy rates in male BRCA mutation carriers are substantially higher than those reported for the general population in corresponding age groups. Prostate cancer is the most prevalent cancer apparent in up to 8% of patients at a median age of 50 years. Unlike other reports, prostate cancer was prevalent among BRCA1 carriers and not restricted to BRCA2.

Funding

The study was funded by the ASCO career development award, Israel Cancer Association, and German Israeli Foundation.

Authors
Roy Mano
Ofer Benjaminov
Inbal Kedar
Yaara Bar
Sivan Sela
Rachel Ozalvo
Jack Baniel
David Margel
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