Background: Conditions associated with BRCA1/2 pathogenic (PVs) or likely pathogenic variants (LPVs) are often severe. The early detection of carrier status is ideal, as it provides options for effective case management. Materials and Methods: The study involved 58 patients with a personal and familial history of breast cancer (BC) who underwent genetic testing at the Regional Centre for Medical Genetics Dolj over a three-year period. An immunohistochemical panel (HER2, ER, PR, and Ki-67) was used to define the molecular subtypes of breast tumors. The AmpliSeq for Illumina BRCA Panel was used to evaluate germline variants in the BRCA1 and BRCA2 genes in patients with BC. The χ² test and Fisher’s exact test were used to compare the different parameters studied. Results: Our findings revealed that 15.5% of the patients carried either BRCA1 or BRCA2 PVs or LPVs. BRCA1 carriers had aggressive tumors whereas BRCA2 carriers had rather low-grade tumors. Conclusions: The study revealed that PVs in both BRCA genes have a significant frequency among BC patients in our region, and BRCA1 carriers tend to develop more aggressive tumors than carriers of BRCA2 PVs and patients with no germline PVs in either of the two genes. These observations could provide new epidemiologic data for this disease in our region and contribute further to the development of national screening strategies.

Background/Objectives: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor-predisposition disorder with age-dependent manifestations and marked clinical variability. This study characterized clinical observations and documented molecular findings in a Romanian regional referral cohort. Methods: We retrospectively analyzed 80 patients referred between 2017 and 2025 because of a family history of NF1 or suggestive clinical signs. Available next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) results were reviewed, and variants were classified according to ACMG/AMP criteria. Results: Pathogenic or likely pathogenic NF1 variants were reported in 15/80 patients (18.75%): 13/66 children (19.7%) and 2/14 adults (14.3%). Five sequence variants and ten copy-number deletions were identified. Clinical observations included pigmentary, neurodevelopmental, skeletal, dysmorphic, and tumor-related findings. Testing availability and clinical documentation were heterogeneous. Conclusions: The detected molecular spectrum included both sequence and dosage variants. Uneven assay availability limits estimation of the incremental yield of combined testing. Complete diagnostic documentation and age-appropriate follow-up are important for interpreting molecular findings and supporting family counseling.