Sequence variants detected in BRCA1 tumor suppressor gene from advanced FFPET breast cancer from east Algeria
Makaleler > Tam Makale · 2024
Yazarlar: Yamina Arab, Kamel Aissat, Sana Ferroudj, Merve Arya, Demet Tigili Özkan, Hachani Khadraoui, Afig Berdeli
STUDIES IN ENGINEERING AND EXACT SCIENCES, Uluslararası, 2024, cilt 5, ss e8629-e8629
Özet
Background: To date, BRCA1 sequence variants have not been characterized in FFPET samples from advanced breast cancer in East Algeria. Therefore, this study aimed to detect BRCA1 variants that may be present in the advanced stages of breast cancer using FFPET samples from East Algeria. Materials and Methods: DNA was extracted from 16 FFPET samples with a mean age (49.47±7.90). These FFPET are characterized by histological types of IDC and ILC and grades II and III SBR. Genetic variants within exon 11 of BRCA1 were investigated by PCR and Sanger sequencing. Results: Our analysis revealed eight non-synonymous missense heterozygous mutations in exon 11 of BRCA1, identified in five PCR-positive cases that were subjected to Sanger sequencing, with frequencies of 3/8 for c.3113A>G and 5/8 for c.3548A>G. These mutations result in p. Glu1038Gly and p. Lys1183Arg substitutions. Conclusion: In this study, we identified two variants. Glu1038Gly and p. Lys1183Arg among patients with advanced breast cancer (grades II and III) in our population. A high frequency of p. Lys1183Arg variant was observed. The presence of these genetic variants in patients with advanced-stage breast cancer will lead us to examine in the future whether they could be potential risk factors for the development of the disease.