Chantel van Wyk, Reem Abdulrahim, Ilse Crous, Abeer Al Saegh, Amira Al Balushi, Bushra Al Muhairi, Sara Al Kiyumi, Suad Al Malki, Munjid Al Harthy
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引用次数: 0
Abstract
Background: Germline genetic testing is integral to precision oncology in prostate cancer (PCa), particularly for men with pathogenic or likely pathogenic (P/LP) BRCA1/2 variants, where results have therapeutic and hereditary implications. However, data from the Middle East remain limited regarding real-world implementation of genetic counseling and its influence on family communication and cascade testing.
Aim: To describe the role and challenges of genetic counseling for BRCA2-associated PCa in Omani patients, focusing on family communication, risk awareness, and cascade testing uptake.
Methods: This descriptive, retrospective case series included nine men with PCa carrying P/LP BRCA2 variants identified between September 2021 and December 2025. Clinical and genetic data were extracted from electronic records, and genetic counseling documentation was reviewed for family history, psychosocial context, communication patterns, and cascade testing. Quantitative data were summarized descriptively. Qualitative content analysis of counseling records identified recurring sociocultural and communication-related factors.
Findings and discussion: Patients were aged 60-76 years at the time of PCa diagnosis, with varied educational backgrounds and disease stages, and all carried BRCA2 variants. Awareness of diagnosis differed, with some patients partially informed or unaware. These findings underscore the pivotal role of genetic counseling in translating BRCA2 molecular results into actionable strategies for patients and families. Family-mediated protective nondisclosure and decision-making were prominent. Cascade testing uptake was higher in families with younger or medically informed relatives and lower where stigma or fear prevailed.
Conclusion: In this single-center Omani case series, effective counseling for BRCA2-associated PCa required navigating complex cultural dynamics related to family-mediated communication and decision-making. Integrating culturally sensitive, family-centered genetic counseling into routine oncology care may save lives by empowering families to act earlier on inherited risk.