Advanced International Journal for Research

E-ISSN: 3048-7641   •   Impact Factor: 9.11

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Volume 7 Issue 5
September-October 2026

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Mutation Analysis Of the BRCA1 Gene

Author(s) Manasi Choube
Country United States
Abstract This study investigates the functional impact of specific missense mutations in the Breast Cancer Type 1 (BRCA1) protein using computational prediction tools SIFT and PolyPhen-2. BRCA1 is a critical tumor suppressor involved in DNA repair and cell cycle regulation. By analyzing mutations in highly conserved domains (RING finger and the BRCT) compared to linker regions, we demonstrate the predictive accuracy of evolutionary conservation and structural bioinformatics in identifying pathogenic variants. Results indicate a high consensus between SIFT and PolyPhen-2 for known pathogenic variants, such as C61G and M1775R, while highlighting the benign nature of common polymorphisms like K1183R.
Field Biology > Genetics / Molecular
Published In Volume 7, Issue 5, September-October 2026
Published On 2026-10-24
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E-ISSN 3048-7641
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