^
    Contact us  to learn more about
    our Premium Content:  News alerts, weekly reports and conference planners
    BIOMARKER:

    PALB2 deletion

    i
    Other names: PALB2, Partner And Localizer Of BRCA2, FANCN, Truncated Partner And Localizer Of BRCA2, Fanconi Anemia, Complementation Group N, Mutant Partner And Localizer Of BRCA2, PNCA3
    Entrez ID:
    79728
    Related biomarkers:
    Mutation
    Others
    1d
    Alu-Mediated Duplication and Deletion of Exon 11 Are Frequent Mechanisms of PALB2 Inactivation, Predisposing Individuals to Hereditary Breast-Ovarian Cancer Syndrome. (PubMed, Cancers (Basel))
    This study underscores the remarkable instability of intronic regions flanking exon 11 of PALB2 and identifies a previously unreported hotspot involving Alu repeats with very high sequence homology in introns 10 and 11 of the gene. Our findings suggest avenues for further research, such as investigating the prevalence of similar genomic rearrangements in larger cohorts and exploring functional studies to understand how these alterations contribute to hereditary breast cancer pathogenesis.
    Journal
    |
    PALB2 (Partner and localizer of BRCA2)
    |
    PALB2 deletion
    over1year
    Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis. (PubMed, Genes (Basel))
    Currently, there is little data on the effect of chromosomal aberrations and mutations in the BRCA1/2 and PALB2 genes on the effectiveness of treatment and prognosis of the disease. At the same time, the study of these genes has great potential for testing focused on a personalized approach to the treatment of patients with breast cancer.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2)
    |
    BRCA2 mutation • BRCA1 mutation • PALB2 mutation • PALB2 deletion
    |
    docetaxel
    over2years
    The landscape of PALB2 alteration in Chinese solid tumor patients (ESMO 2022)
    Conclusions PALB2 deleterious mutations are highly diverse and present at low to moderate frequencies across many cancers. PALB2 alterations warrant further investigation as predictive biomarkers of response to PARP inhibitors or platinum-based therapy.
    Clinical • BRCA Biomarker • PARP Biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • LRP1B (LDL Receptor Related Protein 1B)
    |
    TP53 mutation • PIK3CA mutation • PALB2 mutation • PALB2 deletion • KRAS deletion
    |
    MSK-IMPACT