CLINICOPATHOLOGICAL AND GENETIC CHARACTERISTICS OF BREAST CANCER PATIENTS UNDERGOING MULTIGENE PANEL TESTING: A SINGLE-CENTER COHORT STUDY
TL;DR
The genetic mutation rate in this cohort of 12 breast cancer patients who underwent genetic testing between 2022–2024 was low, consistent with global data suggesting that most breast cancer cases are sporadic.
Abstract
Background: Breast cancer remains the leading malignancy among women worldwide, with a subset of cases linked to hereditary genetic mutations. Multigene panel testing plays an increasingly important role in identifying pathogenic variants and guiding management. Methods: A retrospective cohort of 12 breast cancer patients who underwent genetic testing between 2022–2024 was analyzed. Clinical, pathological, and molecular data—including age, histology, grade, hormonal receptor profile, HER2 expression, and hereditary cancer gene mutations—were collected and evaluated. Results: The mean age at diagnosis was 54 years. Invasive ductal carcinoma was the predominant subtype (≈75%). Grade 2 tumors represented the majority. Most patients were hormone receptor–positive (ER ≈80%, PR ≈70%), while HER2 positivity was observed in ~25% of cases. Two pathogenic variants were identified: BRCA2 (8.3%) and CHEK2 (8.3%). Ten patients (83.4%) tested negative. Conclusion: The genetic mutation rate in this cohort was low, consistent with global data suggesting that most breast cancer cases are sporadic. Multigene testing remains essential for risk assessment and personalized therapy.