The Molecular Detection of Germline Mutations in the and Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients

Overview

Journal Curr Issues Mol Biol

Publisher MDPI

Specialty Molecular Biology

Date 2024 May 24

PMID 38785549

Authors

Liliana-Georgiana Grigore

Viorica-Elena Radoi

Alexandra Serban

Adina Daniela Mihai

Ileana Stoica

Affiliations

Soon will be listed here.

Abstract

The objective of this study was to identify and classify the spectrum of mutations found in the and genes associated with breast and ovarian cancer in female patients in Romania. Germline BRCA1 and BRCA2 mutations were investigated in a cohort of 616 female patients using NGS and/or MLPA methods followed by software-based data analysis and classification according to international guidelines. Out of the 616 female patients included in this study, we found that 482 patients (78.2%) did not have any mutation present in the two genes investigated; 69 patients (11.2%) had a mutation, 34 (5.5%) had a mutation, and 31 (5%) presented different type of mutations with uncertain clinical significance, moderate risk or a large mutation in the gene. Our investigation indicates the most common mutations in the and genes, associated with breast and ovarian cancer in the Romanian population. Our results also bring more data in support of the frequency of the c.5266 mutation in the BRCA1 gene, acknowledged in the literature as a founder mutation in Eastern Europe. We consider that the results of our study will provide necessary data regarding and mutations that would help to create a genetic database for the Romanian population.

Citing Articles

Observational Study of Men and Women with Breast Cancer in Terms of Overall Survival.

Varzaru V, Anastasiu-Popov D, Eftenoiu A, Popescu R, Vlad D, Vlad C Cancers (Basel). 2024; 16(17).

PMID: 39272907 PMC: 11394319. DOI: 10.3390/cancers16173049.

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