Article
Prediction of Specific Survival and Clinicopathological Impact of Somatic PALB2 Mutations and Pathogenic/Likely Pathogenic Variants (PV/LPV) in Breast Cancer: A Cohort Study of 81 Patients.
International journal of surgical pathology - 1 Aug 2026
Hawsawi Yousef M, Mansoor Ibrahim, Sayan Mutlay, Alsaleem Mansour, Khan Mohammed Imran, Saleem Rimah Abdullah, Zakariyah Abeer, Alonazi Fahad Nasser, Alnader Raghad Yousef, Noorsaeed Ahmed, Meliti Abdelrazak, Naseer Muhammad Imran, Alardati Hosam, Alanezi Munaifah K, Shaker Nuha, Shaker Nada
Abstract excerpt
PALB2 plays a crucial role in DNA repair by interacting with BRCA1 and BRCA2. To clarify the clinicopathological impact of somatic PALB2 variants, we analyzed tumor DNA extracted from formalin-fixed, paraffin-embedded (FFPE) breast cancer specimens from 81 patients. Targeted next-generation sequencing identified 1 514 variants, including 84 pathogenic or likely pathogenic variants and 9 genes with high mutation...
Topics
- Humans
- Fanconi Anemia Complementation Group N Protein
- Female
- Breast Neoplasms
- Mutation
- Biomarkers, Tumor
- Prognosis
- Middle Aged