International journal of surgical pathology · 2026
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.
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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
Аннотация
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 frequency; 2 deleterious somatic PALB2 variants were detected in 33% of samples. To explore transcriptional effects, we analyzed publicly available METABRIC mRNA expression data and found that elevated PALB2 mRNA levels were significantly associated with ER-/PR- tumors and poorer survival outcomes. High PALB2 expression remained an independent predictor of shorter overall survival and relapse-free survival. These findings highlight the clinical importance of somatic PALB2 mutations and the prognostic value of PALB2 expression in breast cancer.