Gene PALB2
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Also known as
partner and localizer of BRCA2, FANCN, Fanconi anemia complementation group NOverview
PALB2 (Partner and Localizer of BRCA2) encodes a protein that colocalizes with BRCA2 in nuclear foci and facilitates BRCA2-mediated homologous recombination DNA repair. PALB2 acts as a bridge between BRCA1 and BRCA2, coordinating the assembly of the DNA repair complex. The gene is essential for maintaining genomic stability.Heterozygous PALB2 mutations confer a significantly increased risk of breast cancer, with lifetime risk estimates of 35-60%. PALB2 is now considered a high-penetrance breast cancer susceptibility gene, similar to BRCA2. Biallelic mutations cause Fanconi anemia type N, characterized by bone marrow failure and cancer predisposition. PALB2 mutations also increase pancreatic cancer risk.
Understanding your PALB2 genetic status provides critical information about hereditary cancer risk. PALB2 testing is now included in standard hereditary breast cancer panels, and pathogenic variants warrant enhanced screening and potentially risk-reducing strategies similar to BRCA mutation carriers.