| Abstract [eng] |
2. SUMMARY Aim of the study: To evaluate breast MRI features in patients with inherited cancer-predisposing gene alterations and determine their associations with clinical, histological, and biological characteristics of breast cancer. Objectives of the study: 1. To evaluate breast MRI features in patients with hereditary cancer-predisposing genetic mutations. 2. To analyze morphological, functional, and diffusion MRI parameters, including tumor size, shape, margins, contrast dynamics, T2 signal intensity, and ADC values. 3. To assess associations between MRI features and hereditary genetic risk. 4. To evaluate whether MRI features are significant in hereditary breast cancer context. Methods: Statistical analysis was performed using SPSS. Logistic regression with odds ratios (OR) and 95% confidence intervals (CI) assessed associations between categorical MRI features (symmetry, margins, internal architecture) and tumor phenotype/mutation status. Linear regression and multifactorial variance analysis were used for continuous variables (ADC values, Ki-67). Bonferroni correction was applied for multiple comparisons; p < 0.05 was considered statistically significant. Results: Genetic mutations were identified in 38.2% of patients, predominantly BRCA1. Luminal B and triple-negative phenotypes predominated and were significantly more frequent in mutation carriers (p < 0.05). Most tumors were T2 category, stage II, non-metastatic, grade 3, ductal-type. Genetic mutations were significantly associated with advanced lymph node involvement (p < 0.05), but not with other clinical parameters. MRI analysis showed asymmetric, heterogeneous, irregular- margin tumors were most common; however, genetic mutations did not significantly predict these features (all p > 0.15). No significant independent associations were found between tumor phenotype and MRI morphological features (all p > 0.05). Linear regression showed phenotype-ADC association (p = 0.010), but multifactorial analysis did not confirm significant group differences, possibly due to small sample size. T2 signal intensity was not associated with mutations or phenotype (p > 0.05). Conclusions: Breast MRI features in patients with hereditary breast cancer mutations show no specific radiological pattern and do not significantly differ from patients without mutations. MRI 5 characteristics are more closely associated with tumor molecular phenotype than genetic mutation status. No significant independent associations were identified between phenotype and MRI morphological features. Linear regression showed phenotype-ADC association (p = 0.010), but multifactorial analysis did not confirm this. Radiological findings primarily reflect tumor biological properties rather than genetic status. However, genetic mutations are associated with more aggressive biological subtypes and advanced lymph node involvement, confirming the importance of genetic factors in tumor biological aggressiveness. MRI findings should be interpreted using a comprehensive approach integrating radiological, genetic, and histological data. Keywords: breast cancer, BRCA mutation, magnetic resonance imaging, hereditary cancer, molecular phenotype. |
