Authors

Stella Lai

Publications 2

Research article Open access

Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing

Clare Brookes, Stella Lai, Elaine Love et al. · Sultan Qaboos University Medical Journal · 2025 · 10.18295/2075-0528.1684

Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 and BRCA2 genes. Pathogenic mutations in the BRCA1 and BRCA2 genes lead to an increased risk of developing breast, ovarian, prostate and/or pancreatic cancer. This study aimed to assess the predictive capability of in sil …

Research article Open access

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes

Stella Lai, Clare Brooke, Debra O. Lan et al. · Sultan Qaboos University Medical Journal · 2025 · 10.18295/2075-0528.1655

Objectives: Screening for mutations in large genes is challenging in a molecular diagnostic environment. Sanger-based DNA sequencing methods are largely used; however, massively parallel sequencing (MPS) can accommodate increasing test demands and financial constraints. This study aimed to establish a simple workflow t …

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