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. 2023 May 8;11(5):1386.
doi: 10.3390/biomedicines11051386.

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

Andreea Cătană  1   2 , Adrian P Trifa  2   3 , Patriciu A Achimas-Cadariu  2   4 , Gabriela Bolba-Morar  2 , Carmen Lisencu  2 , Eniko Kutasi  1 , Vlad F Chelaru  1 , Maximilian Muntean  2   4 , Daniela L Martin  2 , Nicoleta Z Antone  2 , Bogdan Fetica  2 , Florina Pop  2 , Mariela S Militaru  1
Affiliations

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

Andreea Cătană et al. Biomedicines. .

Abstract

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.

Keywords: BRCA; Romania; hereditary breast cancer; non-BRCA.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
General characteristics of the cohort.
Figure 2
Figure 2
Mutation frequency in germline-positive patients with hereditary breast cancer.
Figure 3
Figure 3
Waterfall plot of mutation profiles and clinical data for the Romanian cohort.
See this image and copyright information in PMC

References

    1. Furtunescu F., Bohiltea R.E., Voinea S., Georgescu T.A., Munteanu O., Neacsu A., Pop C.S. Breast cancer mortality gaps in Romanian women compared to the EU after 10 years of accession: Is breast cancer screening a priority for action in Romania? (Review of the Statistics) Exp. Ther. Med. 2021;21:268. doi: 10.3892/etm.2021.9699. - DOI - PMC - PubMed
    1. Motoi G., Niţă A.M. The efficiency of public policies and programs for breast cancer prevention. Socio-medical perspectives within a Romania–France comparison. Rom. J. Morphol. Embryol. 2021;62:1069–1075. doi: 10.47162/RJME.62.4.21. - DOI - PMC - PubMed
    1. Su Y., Yao Q., Xu Y., Yu C., Zhang J., Wang Q., Li J., Shi D., Yu B., Zeng Y., et al. Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions. Front. Genet. 2021;12:674094. doi: 10.3389/fgene.2021.674094. - DOI - PMC - PubMed
    1. Bono M., Fanale D., Incorvaia L., Cancelliere D., Fiorino A., Calò V., Dimino A., Filorizzo C., Corsini L., Brando C., et al. Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: Looking over the hedge. ESMO Open. 2021;6:100235. doi: 10.1016/j.esmoop.2021.100235. - DOI - PMC - PubMed
    1. LaDuca H., Polley E.C., Yussuf A., Hoang L., Gutierrez S., Hart S.N., Yadav S., Hu C., Na J., Goldgar D.E., et al. A clinical guide to hereditary cancer panel testing: Evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients. Genet. Med. 2020;22:407–415. doi: 10.1038/s41436-019-0633-8. - DOI - PMC - PubMed