From Crisis to Clarity: The Essential Role of Genetic Counseling and Emerging Risk-Reducing Strategies in BRCA1-Associated Breast Cancer – A Case Report

Abstract

Women with BRCA1 pathogenic variants face high lifetime risks of breast and ovarian cancer, requiring complex risk-reducing decisions. We report a 35-year-old woman with node-negative triple-negative breast cancer who achieved a pathologic complete response after neoadjuvant chemotherapy and breast-conserving surgery and was subsequently found to carry a BRCA1 pathogenic variant. She was advised to undergo bilateral mastectomy and risk-reducing salpingo-oophorectomy (RRSO) but sought a second opinion in severe distress after receiving no pre-test counseling or adequate explanation of her results. Comprehensive genetic counseling and independent Sanger sequencing confirmed the variant in both the proband and her sister. This case highlights the critical role of genetic counseling in informed decision-making and psychosocial support. Emerging evidence on risk-reducing salpingectomy with delayed oophorectomy (RRS-DO), including data from the Women Choosing Surgical Prevention With Salpingectomy and Delayed Oophorectomy and Tubectomy and delayed oophorectomy in BRCA1/2 mutation carriers trials, suggests a patient-centered alternative that may preserve ovarian function while reducing cancer risk. Integrating adequate counseling and individualized preventive strategies is essential to improve patient autonomy and translate genomic testing into effective cancer prevention.