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    GENE:

    PALB2 (Partner and localizer of BRCA2)

    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
    5d
    Comprehensive genomic analysis of non-BRCA familial breast cancer in an Arab population. (PubMed, NPJ Breast Cancer)
    PRS assessment identified four PRSs with good discriminatory power (AUC > 0.690), with PGS003738 showing the highest performance (AUC = 0.702, top decile OR = 3.57). These findings highlight the need for population-specific genetic studies to improve breast cancer risk stratification in Arab populations.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1)
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    BRCA2 mutation • BRCA1 mutation
    5d
    Genomic Features and Response to Poly(ADP-ribose) Polymerase Inhibition in Metastatic Castration-Resistant Prostate Cancer. (PubMed, JCO Precis Oncol)
    Most PARPi responders had alterations in HRR genes, particularly BRCA2, although some responders lacked known biomarkers associated with PARPi response. Our findings in this real-world data set support HRR gene testing for PARPi use in mCRPC and highlight the need for novel genome-wide biomarkers for patient selection.
    Observational data • Retrospective data • Journal • BRCA Biomarker • PARP Biomarker
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    BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • BARD1 (BRCA1 Associated RING Domain 1)
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    BRCA2 mutation • BRCA mutation
    5d
    Pangeia-2: Prevalence of Emerging Treatment-induced Mutations in Metastatic ER-positive Breast Cancer. (clinicaltrials.gov)
    P=N/A, N=70, Recruiting, AstraZeneca | Trial completion date: Dec 2025 --> Dec 2027 | Trial primary completion date: Dec 2025 --> Dec 2027
    Trial completion date • Trial primary completion date
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    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CDK4 (Cyclin-dependent kinase 4)
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    HER-2 negative • HER-2 mutation • PTEN mutation • PGR positive
    8d
    Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection. (PubMed, Eur J Hum Genet)
    Altogether, GRIDSS implementation increased diagnostic yield while maintaining feasibility for diagnostic workflows. Comprehensive workflow scheme for germline structural variant detection and results in our diagnostic setting.
    Journal • Next-generation sequencing • BRCA Biomarker
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    BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • BARD1 (BRCA1 Associated RING Domain 1)
    9d
    RADIOLA: Predicting Olaparib Sensitivity in Patients With Unresectable Locally Advanced/Metastatic HER2-negative Breast Cancer. (clinicaltrials.gov)
    P2, N=65, Completed, SOLTI Breast Cancer Research Group | Recruiting --> Completed
    Trial completion
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    HER-2 (Human epidermal growth factor receptor 2) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • RAD51 (RAD51 Homolog A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)
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    BRCA2 mutation • BRCA1 mutation • HER-2 amplification • HER-2 negative • PALB2 mutation • PGR positive • RAD51C mutation • RAD51D mutation • HER-2 negative + AR positive + ER positive
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    Lynparza (olaparib)
    10d
    Landscape of somatic genetic alterations and PAM50 intrinsic subtypes in breast cancer associated with germline pathogenic variants in DNA-repair genes. (PubMed, J Natl Cancer Inst)
    GPVs in BRCA1, BRCA2, ATM, CHEK2, and PALB2 are associated with distinct intrinsic breast cancer subtypes and somatic genomic alterations. These findings may enhance precision in risk stratification and guide personalized treatment strategies.
    Journal • BRCA Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • 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) • FGFR1 (Fibroblast growth factor receptor 1) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
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    HER-2 negative
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    Prosigna™ Breast Cancer Prognostic Gene Signature Assay
    12d
    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. (PubMed, Int J Surg Pathol)
    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.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2)
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    PALB2 mutation
    14d
    Impact of Ethnicity on the Uptake of Risk Reducing Mastectomy in Unaffected BRCA1/2 and PALB2 Carriers in Canada. (PubMed, Ann Surg Oncol)
    In this study of unaffected BRCA1/2 and PALB2 carriers, RRM uptake was lowest among Black/African/Caribbean carriers. However, ethnicity was not significantly associated with uptake of RRM in adjusted analyses. Further studies are needed to understand disparities in risk-reduction uptake and the complex decision-making process.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2)
    16d
    Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification. (PubMed, EBioMedicine)
    Analysis across multiple tumour whole-genome sequencing datasets has shown that HR status prediction algorithms can separate profiles for BRCA1 and BRCA2 pathogenic variants and provide further evidence at increased weight to aid in the classification of germline BRCA1 and BRCA2 variants. Tumour sequencing offers a promising strategy for reducing the uncertainty in germline variant interpretation.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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    HRD
    20d
    Identification of Genetic Variants Among Breast Cancer Patients and At-Risk Individuals: A Cohort Study in Sri Lanka. (PubMed, Breast Cancer (Auckl))
    Three pathogenic variants, BRCA2 [c.6509A>G; c.7879A>T; c.5574_5577delAATT] and PALB2 [c.1592delT], were identified in high-risk genes important for breast cancer prediction. Identification of population-based variants may improve breast cancer screening and management in Sri Lanka.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • MUTYH (MutY homolog)
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    BRCA2 mutation • PALB2 mutation
    1m
    Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China. (PubMed, Pathophysiology)
    As the inaugural germline genomic investigation of MaBC in a Han Chinese population, this work reveals clinically actionable alterations with diagnostic and therapeutic implications. These discoveries not only advance our understanding of MaBC's molecular architecture but also underscore the critical need for dedicated research into this malignancy.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • RAD50 (RAD50 Double Strand Break Repair Protein) • ABCC6 (ATP Binding Cassette Subfamily C Member 6)
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    BRCA2 mutation • PALB2 mutation
    1m
    Differential Response to 177Lu-PSMA-617 in Patients with Tumor Suppressor Gene-Mutated Metastatic Castration-Resistant Prostate Cancer. (PubMed, J Nucl Med)
    TP53, PTEN, and RB1 mutations were linked to inferior overall survival in LuPSMA-treated patients and may serve as prognostic biomarkers. Prospective validation is required to establish their predictive value.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
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    TP53 mutation • PTEN mutation • PALB2 mutation • RB1 mutation • CHEK2 mutation
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    Pluvicto (lutetium Lu 177 vipivotide tetraxetan)