Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country

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...

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Bibliographic Details
Published in:Biomedicines Vol. 11; no. 5; p. 1386
Main Authors: Cătană, Andreea, Trifa, Adrian P, Achimas-Cadariu, Patriciu A, Bolba-Morar, Gabriela, Lisencu, Carmen, Kutasi, Eniko, Chelaru, Vlad F, Muntean, Maximilian, Martin, Daniela L, Antone, Nicoleta Z, Fetica, Bogdan, Pop, Florina, Militaru, Mariela S
Format: Journal Article
Language:English
Published: Switzerland MDPI AG 08-05-2023
MDPI
Subjects:
Age
Behavior
BRCA
BRCA1 protein
BRCA2 protein
Breast cancer
Cancer
Diagnosis
Family medical history
Gene mutations
Genes
Genetic aspects
Genetic counseling
Genetic diversity
Genetic testing
Health aspects
hereditary breast cancer
Histology
Malignancy
Medical diagnosis
Medical genetics
Mutation
non-BRCA
Oncology, Experimental
Precision medicine
Prognosis
Prophylaxis
Risk assessment
Romania
Tumors
United States > US
Romania
BRCA
Romania
hereditary breast cancer
non-BRCA
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Summary: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 and non- carriers regarding family history of cancer, age of onset, and histopathological subtypes. Triple-negative (TN) tumors were more often positive, unlike positive tumors, which were more often the Luminal B subtype. The most frequent non- mutations were found in , , and , 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.
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ISSN:2227-9059
2227-9059
DOI:10.3390/biomedicines11051386