The role of genetic testing in guiding prophylactic mastectomy decisions: Analysing the influence of BRCA1/BRCA2 mutations and other genetic risk factors on the choice of riskreducing surgery and the psychosocial implications for patients
1Dr Sanam Nusrat, 2Dr Muhammad Sami Bilal, 3Dr Shahzada AmirAhmed Babar, 4Mansoor Ali, 5Taimoor Ghori, 6Dr Faisal Sarwar Abbasi
1Mediclinic Middle East, General Surgery department
2Assistant Professor of Psychiatry, CPSP Karachi
3Associate Professor General Surgery, Bolan Medical College Quetta
4UHS Lahore
5PIMS Islamabad
6General Surgery department, Yousaf Siddiui Hospital
Vol: 15/02
Received: January 25, 2025 Accepted: March 02, 2025 Published: July 06, 2025
Abstract
Background: Prophylactic mastectomy (PM) is surgical risk-reduction for women with genetic mutations which include BRCA 1 and BRCA 2 that put them at high risk of breast cancer. Genetic testing plays a crucial role in assessment of emotional and physical conditions and risk-related decision to choose PM or surveillance. Hence, identification of psychosocial consequences of these decisions is crucial for both confident patient-centered treatment and for effective decision-making. Aim: It will also reveal factors that affect the choice of prophylactic mastectomy based on the genetic risk such as BRCA1/BRCA2 mutations among other factors, and the psychosocial implications especially among those who have undergone the surgery or preferred surveillance.
Method: The research design that was used in this case was a retrospective cohort analysis which targeted women who had been tested for BRCA1/BRCA2. Participants filled in the questionnaire which included questions concerning decision making factors, gene test results and psychosocial impact of BRCA Gene testing as well as issues related to mental health status that included body image and self-esteem as well as quality of life.
Results: In women with reported BRCA1/BRCA2 mutations, 63% underwent PM and mutation carriers of BRCA1 had a higher likelihood of surgery. Consent, medical consultation, family records and genetic consultation helped in making these decisions. PM was associated with cancellation of related anxiety; however, body image and emotional issues were encountered by women who preferred this option and surveillance was associated with constant anxiety regarding the risk of cancer.
Conclusion: BRCA1/BRCA2 mutation does play a role in the decisions to proceed with PMM but there are other genetic markers involved and family history as well. PM modifies the sufferers’ life on a psychosocial level while surveillance also induces essential psychosocial consequences, making the necessity of individual genetic counselling and long-term psychosocial assistance indisputable. More research should be conducted in the future for increased understanding of the post-acute psychosocial outcomes as well as the novel genetic markers which may be in the future identified. Keywords: Prophylactic mastectomy, BRCA1, BRCA2, genetic testing, risk-reducing surgery, psychosocial impacts, cancer prevention, decision-making, body image, quality of life.
