A Comprehensive Study on Surveillance Outcomes of a Male Population Carrying Pathogenic/Likely pathogenic Variants associated with Hereditary Breast Cancer Syndromes at a Portuguese Tertiary Hospital

• Autor(a) principal: Maria João Simões Cardoso de Oliveira
• Data de Publicação: 2023
• Tipo de documento: Dissertação
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://hdl.handle.net/10216/150376
• topic: Medicina clínica; Clinical medicine

Men born with pathogenic/likely pathogenic variants in genes associated with the Hereditary Breast and Ovarian Cancer Syndrome have a higher risk to develop breast cancer and others (such as prostate cancer) and should undergo adequate surveillance protocols in highly specialized Centers. A retrospective study was conducted to assess these genetic variants' epidemiological and phenotypical manifestations in male carriers, as well as the efficacy of the surveillance protocol and compliance towards it through a survey. During follow-up, a genetic panel for testing was implemented, the starting age for surveillance was delayed, and the six-month screening interval was extended to annual. A total of 104 male carriers from a tertiary hospital's High-Risk Consultation were included in our study population, with positive genetic testing for BRCA1 (n=31), BRCA2 (n=55), both BRCA2 and another gene (n=5), CDH1 (n=2), CHEK2 (n=4), NF1 (n=1), RAD51C (n=4) or no actionable genetic variant identified (n=2). The follow-up period ranged from one to 13 years, and only one man developed cancer. Survey responses from 48 men in active surveillance showed that more than half of them recognizes their carrier status and consequent surveillance impact on their life, including the risk of transmission to offspring, fear of future cancer, meaningful distress, and feeling of injustice. Biannual surveillance was not actively detecting more cancer disease cases, confirming the adequacy of the currently implemented protocol. With support of Genetics to fulfill the current gaps in high-risk management, the proposed redefinition of surveillance protocol would adapt it to the population needs and concerns.