| Titre : | Genetic association study and an in silico analysis of breast cancer |
| Auteurs : | BERBER,Naima, Directeur de thèse ; Randa HALIMAOUI, Auteur |
| Type de document : | texte imprimé |
| Editeur : | saida [algerie] : Université dr Moulay Tahar, 2024 |
| Format : | 69P |
| Accompagnement : | CD |
| Langues: | Anglais |
| Catégories : | |
| Mots-clés: | breast cancer ; BRCA1 ; mutations ; in silico analysis |
| Résumé : |
Breast cancer is a critical public health issue in Algeria, with increasing incidence and substantial challenges in diagnosis, treatment, and management. Breast cancer incidence in Algeria has increased significantly, with over 2.1 million women diagnosed in 2018. BRCA1, a pivotal gene in DNA repair and tumor suppression, is critically implicated in the predisposition to breast and ovarian cancers. In silico analysis has emerged as a powerful approach to understand the functional implications
of BRCA1 mutations, offering insights into their structural and mechanistic effects. This study leverages computational tools (I-Mutant 2.0), (SIFT), (Align-GVGD), (PolyPhen-2), (Project HOPE) software) to analyze the impact of various BRCA1 mutations on protein structure and function. By employing molecular modeling, sequence alignment, and predictive algorithms, we identify mutations that significantly disrupt BRCA1’s role in maintaining genomic stability. The analysis reveals key regions within the BRCA1 protein that are particularly susceptible to substituted alterations in two different in silico analysis. The (c. 135G>C) (p. Lys45Asn) mutation and (c. 122A>G) (p. His41Arg) mutation provide a framework for prioritizing mutations for experimental validation and clinical assessment. Additionally, we explore the potential of in silico findings to inform the development of targeted therapies. |
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Documents numériques (1)
SNVTM001035 Adobe Acrobat PDF |
