Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Andreea CătanăAdrian Pavel TrifaPatriciu A Achimas-CadariuGabriela Bolba-MorarCarmen LisencuEniko KutasiVlad Florin ChelaruMaximilian MunteanDaniela L MartinNicoleta Z AntoneBogdan FeticaFlorina PopMariela S MilitaruPublished in: Biomedicines (2023)
In Romania, breast cancer (BC) is the most common malignancy in women. However, there is limited data on the prevalence of predisposing germline mutations in the population in the era of precision medicine, where molecular testing has become an indispensable tool in cancer diagnosis, prognosis, and therapeutics. Therefore, we conducted a retrospective study to determine the prevalence, mutational spectrum, and histopathological prediction factors for hereditary breast cancer (HBC) in Romania. A cohort of 411 women diagnosed with BC selected upon NCCN v.1.2020 guidelines underwent an 84-gene NGS-based panel testing for breast cancer risk assessment during 2018-2022 in the Department of Oncogenetics of the Oncological Institute of Cluj-Napoca, Romania. A total of 135 (33%) patients presented pathogenic mutations in 19 genes. The prevalence of genetic variants was determined, and demographic and clinicopathological characteristics were analyzed. We observed differences among BRCA and non- BRCA carriers regarding family history of cancer, age of onset, and histopathological subtypes. Triple-negative (TN) tumors were more often BRCA1 positive, unlike BRCA2 positive tumors, which were more often the Luminal B subtype. The most frequent non- BRCA mutations were found in CHEK2 , ATM , and PALB2 , and several recurrent variants were identified for each gene. Unlike other European countries, germline testing for HBC is still limited due to the high costs and is not covered by the National Health System (NSH), thus leading to significant discrepancies related to the screening and prophylaxis of cancer.
Keyphrases
- breast cancer risk
- papillary thyroid
- genome wide
- risk assessment
- copy number
- risk factors
- squamous cell
- end stage renal disease
- childhood cancer
- dna damage
- dna repair
- polycystic ovary syndrome
- newly diagnosed
- genome wide identification
- lymph node metastasis
- peritoneal dialysis
- prognostic factors
- type diabetes
- human health
- small molecule
- single molecule
- young adults
- pregnant women
- quality improvement
- hepatitis c virus
- tertiary care
- heavy metals
- big data
- patient reported outcomes
- data analysis
- electronic health record
- clinical practice
- robot assisted
- antiretroviral therapy
- human immunodeficiency virus
- patient reported