Background: The implementation of genetic cancer risk assessment (GCRA) has resulted in an increased identification of adult males with breast cancer (BC) predisposing mutations. However, its effect on adherence to cancer prevention strategies and the psychological impact of receiving a positive genetic test result have not been sufficiently explored in men. The aim of this study is to determine the impact of GCRA on men with BC predisposing mutations.

Methods: Men aged ≥18 years that underwent genetic testing between 2017 and 2019 in a center located in Monterrey, Mexico were invited to answer a telephone survey in which clinical information was collected. In addition, a section with an adapted Multidimensional Impact of Cancer Risk Assessment (MICRA) was incorporated. Total MICRA score was determined as the mean of items 1-21. Furthermore, seven sections were analyzed separately: distress (items 1-4 and 7-8), uncertainty (items 9-12, 14-17 and 20), positive experiences (items 5-6 and 18-19), understanding choices (item 13), testing regret (item 21), worry about children (items 22-23) and worry about cancer (items 24-25). Differences between categorical variables were explored using Mann Whitney U tests.

Results: A total of 31 patients were eligible for this study, of which 29 consented to participate. Of these, 15 were mutation carriers (8 BRCA1, 3 BRCA2, 2 ATM, 1 CHEK2 and 1 PALB2) with a median age of 45 years (range 20-71). Only one of the carriers surveyed had a personal history of BC. The median time elapsed from disclosure of positive carrier status to survey application was 13 months. Remarkably, 3/15 ignored their test result despite previous GCRA, and only 4/15 were able to identify the specific mutated gene. Most had disclosed their mutation status to close relatives (67%). Regarding psychological impact, 2/15 thought that their genetic test result had a significant impact in their life and 1/15 claimed that undergoing genetic testing generated feelings of anxiety or depression. In addition, two out of three childless carriers reported that their mutation status made them seriously doubt whether to have biological children. Notably, only 47% were aware about the mode of transmission of their mutation. Concerning medical support, 87% felt that the support offered by the medical team was sufficient, but only 60% considered that they had enough information about the implications of their carrier status. With respect to prevention strategies, 67% claimed to be unaware about the general recommendations according to their mutational status and age. Furthermore, 87% did not use sunscreen, 80% had never visited a dermatologist, 73% could not correctly identify suspicious signs for skin cancer, 8/11 (72%) of eligible patients did not perform routine breast self-exams, and 10/11 (91%) had not visited a physician for a clinical breast exam. In addition, 0/6 (0%) of the eligible patients had had a colonoscopy and 5/6 (83%) eligible patients had not undergone screening for prostate cancer. Concerning the MICRA score, patients with BC predisposing mutations had a higher total mean score than non-carriers (21.7 vs. 14.3; p=0.01), particularly due to the positive experiences subscale (11.5 vs. 5.4; p=0.01).

Conclusion: Low awareness and poor adherence to recommended prevention strategies were found in male mutation carriers despite a high impact of GCRA in this group. Hence, efforts to elucidate the specific barriers that limit adherence to these strategies in men are warranted.

MICRA scores. Results are shown as mean (standard deviation).
Mutation carriers (n=15)Non-carriers (n=14)p value
Total score 21.7 (8.5) 14.3 (7.8) 0.008 
Distress subscale 2.1 (4.0) 1.1 (1.9) 0.617 
Uncertainty subscale 6.0 (6.3) 5.6 (7.1) 0.603 
Positive experiences subscale 11.5 (5.2) 5.4 (7.2) 0.013 
Understanding choices item 2.0 (2.2) 2.1 (2.1) 0.841 
Testing regret item 0.1 (0.3) 0.0 (0.0) 0.779 
Worry about children section 2.5 (3.1) 3.7 (3.3) 0.569 
Worry about cancer section 5.0 (0.0) 5.0 (0.0) >0.99 
MICRA scores. Results are shown as mean (standard deviation).
Mutation carriers (n=15)Non-carriers (n=14)p value
Total score 21.7 (8.5) 14.3 (7.8) 0.008 
Distress subscale 2.1 (4.0) 1.1 (1.9) 0.617 
Uncertainty subscale 6.0 (6.3) 5.6 (7.1) 0.603 
Positive experiences subscale 11.5 (5.2) 5.4 (7.2) 0.013 
Understanding choices item 2.0 (2.2) 2.1 (2.1) 0.841 
Testing regret item 0.1 (0.3) 0.0 (0.0) 0.779 
Worry about children section 2.5 (3.1) 3.7 (3.3) 0.569 
Worry about cancer section 5.0 (0.0) 5.0 (0.0) >0.99 

Citation Format: Ana S Ferrigno, Alejandro Aranda-Gutierrez, Mariana Moncada-Madrazo, Arantza Montemayor-Solis, Julia S Arango-Vasquez, Juan CA Garcia-Marrufo, Lourdes Martinez-Ordaz, Cynthia Villarreal-Garza, Dione Aguilar. Impact of genetic cancer risk assessment on males with breast cancer predisposing mutations [abstract]. In: Proceedings of the 2020 San Antonio Breast Cancer Virtual Symposium; 2020 Dec 8-11; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2021;81(4 Suppl):Abstract nr PS8-23.