Hereditary cancer predisposition syndromes are responsible for approximately 5–10% of all diagnosed cancer cases. In the past, single-gene analysis of specific high risk genes was used for the determination of the genetic cause of cancer heritability in certain families. The application of Next Generation Sequencing (NGS) technology has facilitated multigene panel analysis and is widely used in clinical practice, for the identification of individuals with cancer predisposing gene variants. The purpose of this study was to investigate the extent and nature of variants in genes implicated in hereditary cancer predisposition in individuals referred for testing in our laboratory. In total, 1197 individuals from Greece, Romania and Turkey were referred to our laboratory for genetic testing in the past 4 years. The majority of referrals included individuals with personal of family history of breast and/or ovarian cancer. The analysis of genes involved in hereditary cancer predisposition was performed using a NGS approach. Genomic DNA was enriched for targeted regions of 36 genes and sequencing was carried out using the Illumina NGS technology. The presence of large genomic rearrangements (LGRs) was investigated by computational analysis and Multiplex Ligation-dependent Probe Amplification (MLPA). A pathogenic variant was identified in 264 of 1197 individuals (22.1%) analyzed while a variant of uncertain significance (VUS) was identified in 34.8% of cases. Clinically significant variants were identified in 29 of the 36 genes analyzed. Concerning the mutation distribution among individuals with positive findings, 43.6% were located in the BRCA1/2 genes whereas 21.6, 19.9, and 15.0% in other high, moderate and low risk genes respectively. Notably, 25 of the 264 positive individuals (9.5%) carried clinically significant variants in two different genes and 6.1% had a LGR. In our cohort, analysis of all the genes in the panel allowed the identification of 4.3 and 8.1% additional pathogenic variants in other high or moderate/low risk genes, respectively, enabling personalized management decisions for these individuals and supporting the clinical significance of multigene panel analysis in hereditary cancer predisposition.

Breast cancer (BC) is the most common malignant disease in women in Romania, with incidence and mortality rates among the highest in Europe. This consensus statement aims to ensure equitable access to care for human epidermal growth factor receptor 2-negative metastatic BC (HR+/HER2– mBC) and triple-negative mBC (mTNBC) in Romania. Between December 2024 and June 2025, a scientific board of 11 oncologists, in collaboration with the Romanian National Society for Medical Oncology (SNOMR), developed national recommendations based on ESMO/NCCN/ABC guidelines, clinical expertise, and local conditions. A modified Delphi survey was conducted among medical oncologists to evaluate acceptance of recommendations with greatest clinical impact. Key recommendations included: mandatory biopsy at metastasis with ER/PgR/HER2 retesting, HER2-low assessment, and molecular profiling (BRCA, PIK3CA, AKT1/PTEN, ESR1, plus PD-L1 testing in mTNBC); for HR+/HER2– mBC, first-line endocrine therapy plus CDK4/6 inhibitor, followed by targeted agents, chemotherapy, or antibody–drug conjugates based on progression and visceral crisis; for mTNBC, first-line immune checkpoint inhibitor plus chemotherapy in PD-L1-positive, PARP inhibitors in BRCA-positive patients, and sacituzumab-govitecan or trastuzumab-deruxtecan later; systematic toxicity monitoring; and integrated supportive and palliative care. Sixty-one oncologists completed the survey, with >90% overall agreement, suggesting broad acceptance of recommendations as Romania’s national standard for mBC care.

Background/Objectives: According to Globocan, Romania has the highest incidence of nasopharyngeal cancer (NPC) in Europe. Our objective was to evaluate the survival data for a cohort of non-Asian patient population treated with curative intent at a tertiary cancer center in Romania. Methods: We retrospectively analyzed 161 patients with histologically proven, non-metastatic NPC treated at our institution between October 2014 and December 2021 with intensity modulated arc radiotherapy (IMRT) with or without neoadjuvant or concomitant chemotherapy according to the stage of the disease. Kaplan-Meier estimates of overall, disease-free, locoregional relapse free and distant metastasis free survival were calculated. The log-rank test was used to determine significant prognostic determinants of overall and disease-free survival. Results: The median age was 50 years (range 19–80), 88% had nonkeratinizing undifferentiated carcinoma. Epstein Barr virus status was not evaluated routinely. 42.2% of patients were stage III and 46% stage IVA disease. Induction chemotherapy was prescribed for 72.7% of patients and 89.4% received concurrent chemotherapy. After a median follow up of 44 months (range: 3.6, 104.7 months), the estimated 3 years overall, disease free, locoregional relapse free and distant metastasis free survival of the entire cohort were 82.6%, 73.3%, 83.2% and 86.3% respectively. On testing interactions, concomitant chemotherapy offered significant survival benefit (HR—0.287; 95% CI 0.137–0.603; p = 0.001) and cumulative Cisplatin dose of more than 100 mg/mp was statistically significant for survival (HR—0.350;95% CI 0.157–0.779; p = 0.01) Conclusions: This is the largest retrospective series of nasopharyngeal cancer from Romania reporting survival data. Despite the high percentage of advanced stage disease our data shows very good disease control. Compliance to optimal concomitant chemotherapy should represent a priority in clinical practice in a non-Asian patient population.