Risk-reducing surgery for genetic mutations in patients with a family history of breast cancer. Case report

Abstract

Introduction: Patients with a significant family history of breast cancer should undergo genetic testing at an early age, which allows for appropriate counselling and, if necessary, timely treatment, such as risk-reducing surgery (bilateral mastectomies). These procedures should be performed by a multidisciplinary team of professionals, who support patients from the first consultations, emphasising the importance of genetic testing, the need for comprehensive treatment and ongoing follow-up.

Clinical case: This is a case of a 24-year-old woman with a very high family burden for breast cancer. Physical examination and imaging studies: ultrasound, mammography and nuclear magnetic resonance (NMR) with negative results for breast pathology; next-generation sequencing (NGS) study for genetic analysis showed mutations in breast cancer gene 1 and 2 (BRCA 1 and 2); after discussing her case, it was decided to perform a risk-reducing skin- and nipple-sparing mastectomy with immediate reconstruction. The pathology ruled out the presence of malignancy; due to age and nulliparity, it was decided to keep the ovaries under periodic observation.

Conclusion: The advancement of genomics has made it possible to identify patients carrying mutations at an early age and propose conservative surgical options such as risk-reducing mastectomy, which reduces the probability of suffering from breast cancer and increases survival.