Male Breast Cancer: Surgical and Genetic Features and a Multidisciplinary Management Strategy

Abstract

Background: Male breast cancer (MBC) is a rare disease with a rising incidence trend. The major risk factors related to MBC are a positive family history of breast cancer (BC) and BRCA1/2 mutations, which indicate a relevant genetic role.

Methods: In this retrospective series, we enrolled 69 male patients presenting with male breast cancer (MBC) between 01/01/1992 and 31/12/2018, and 26 high-risk not-affected men presenting between 01/01/2016 and 31/12/2018. Participants' electronic clinical records were reviewed. Patients' data reported age at diagnosis, tumor characteristics, therapeutic management, and BRCA1/2 status as well as a family history of breast, ovarian, or prostate cancer (PCa) in first-degree relatives.

Results: We analyzed 69 MBC patients. Median age was 64 years. The majority of tumors diagnosed were of an early TNM stage. The most frequent histological subtype was invasive ductal carcinoma (76.7%). Hormone receptors were positive in >90% of MBC cases. Nearly all patients underwent modified radical mastectomy or total mastectomy. Adjuvant endocrine therapy was delivered in 59.4%. Among MBC-affected patients, we recorded a high percentage of a positive family history of BC. Mutational analysis for the BRCA1/2 genes was performed in 17 MBC patients; 11.8% were carriers of BRCA2 pathogenic mutations. Among 26 healthy high-risk subjects included in this case series, 4 were BRCA1 mutation carriers and 9 were BRCA2 mutation carriers.

Discussion: We evaluated the distribution of clinicopathological characteristics in MBC subjects and assessed the frequency of mutations in the BRCA genes in affected patients and healthy high-risk subjects, with the aim of proposing a surveillance program for BC and PCa.

Keywords: BRCA1/2; Male breast cancer; Prostate cancer.

Conflict of interest statement

The authors have no conflicts of interest to declare.

Copyright © 2019 by S. Karger AG, Basel.

Figures

Fig. 1

Age distribution in patients with MBC.

Fig. 2

Patient 1 genealogical tree. Squares, males; circles, females; black filling, breast cancer; white filling, unaffected; black frame, BRCA1/2 wild-type; red frame, BRCA2 mutation carrier.

Fig. 3

Patient 2 genealogical tree. Squares, males; circles, females; black filling, breast cancer; white filling, unaffected; black frame, BRCA1/2 wild-type; red frame, BRCA2 mutation carrier.