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    BIOMARKER:

    PALB2 mutation

    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:
    CNA
    Others
    Related tests:
    11d
    CERTIS1: Study of AZD9574 as Monotherapy and in Combination With Anti-cancer Agents in Participants With Advanced Solid Malignancies (clinicaltrials.gov)
    P1/2, N=695, Recruiting, AstraZeneca | Trial completion date: Apr 2027 --> Aug 2027 | Trial primary completion date: Apr 2027 --> Aug 2027
    Trial completion date • Trial primary completion date
    |
    HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • HRD (Homologous Recombination Deficiency) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)
    |
    HER-2 negative • PALB2 mutation • RAD51C mutation • RAD51D mutation
    |
    temozolomide • Enhertu (fam-trastuzumab deruxtecan-nxki) • Datroway (datopotamab deruxtecan-dlnk) • AZD9574
    22d
    Case Report: Metachronous pancreatic adenocarcinoma following HER2-positive breast cancer and the implications of non-BRCA germline variants with TP53-mutant disease. (PubMed, Front Oncol)
    A 54-year-old woman was diagnosed with stage IIIB HER2-positive invasive breast cancer in 2017 and treated with neoadjuvant chemotherapy (TAC), modified radical mastectomy, radiotherapy, trastuzumab, and toremifene...It suggests that VUS in genes involved in cellular stress and metabolic pathways, particularly in combination with TP53 mutations, may contribute to the development of multiple primary malignancies. Furthermore, it underscores the importance of vigilant, phenotype-driven long-term surveillance in such patients, regardless of germline testing results.
    Journal • BRCA Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • 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) • ALOX12B (Arachidonate 12-Lipoxygenase) • CA 19-9 (Cancer antigen 19-9)
    |
    HER-2 positive • TP53 mutation • ATM mutation • PALB2 mutation
    |
    Herceptin (trastuzumab)
    24d
    PARP Inhibitors in Metastatic Castration-resistant Prostate Cancer: Rationale, Mechanisms, and Clinical Applications. (PubMed, Eur Urol Oncol)
    Promising results have led to the approval of several PARPi agents as monotherapy or in combination with ARPIs in selected or unselected patients when chemotherapy is not clinically indicated. However, some questions remain regarding patient selection and treatment sequencing.
    Review • Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12)
    |
    PALB2 mutation • CDK12 mutation
    |
    Lynparza (olaparib) • Talzenna (talazoparib) • Zejula (niraparib) • Xtandi (enzalutamide) • Rubraca (rucaparib) • Xofigo (radium Ra-223 dichloride)
    29d
    ABT-888 With Modified FOLFOX6 in Patients With Metastatic Pancreatic Cancer (clinicaltrials.gov)
    P1/2, N=64, Completed, Georgetown University | Unknown status --> Completed
    Trial completion
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    PALB2 mutation • BRCA mutation
    |
    5-fluorouracil • oxaliplatin • veliparib (ABT-888) • leucovorin calcium
    1m
    Phase IIB Trial of Bazedoxifene Plus Conjugated Estrogens (clinicaltrials.gov)
    P2, N=120, Active, not recruiting, University of Kansas Medical Center | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • NF1 (Neurofibromin 1) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
    |
    PTEN mutation • PALB2 mutation • CHEK2 mutation
    1m
    Niraparib in Patients With Pancreatic Cancer (clinicaltrials.gov)
    P2, N=32, Active, not recruiting, Dana-Farber Cancer Institute | Trial primary completion date: Sep 2025 --> Dec 2025
    Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2)
    |
    ATM mutation • PALB2 mutation • CHEK2 mutation
    |
    Zejula (niraparib)
    2ms
    Mutagenesis of the PALB2 WD40 domain identifies variants defective in interaction with BRCA2 and DNA repair. (PubMed, J Biol Chem)
    We also identified nine variants with a severe impact on BRCA2 binding and HR repair. We propose that these variants, which consistently show loss of function in different functional assays, represent pathogenic cancer predisposing variants.
    Journal • BRCA Biomarker
    |
    BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2)
    |
    PALB2 mutation
    2ms
    NCI10217: Testing the Combination of the Anti-cancer Drugs Copanlisib, Olaparib, and MEDI4736 (Durvalumab) in Patients With Advanced Solid Tumors With Selected Mutations (clinicaltrials.gov)
    P1, N=39, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Mar 2026 --> Sep 2026
    Trial completion date
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • CD4 (CD4 Molecule) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
    |
    PIK3CA mutation • PTEN mutation • PALB2 mutation • CDK12 mutation • BARD1 mutation
    |
    Lynparza (olaparib) • Imfinzi (durvalumab) • Aliqopa (copanlisib)
    2ms
    The Cancer of the Pancreas Screening-5 CAPS5)Study (clinicaltrials.gov)
    P3, N=9000, Recruiting, Johns Hopkins University | Trial completion date: Dec 2025 --> Jun 2029 | Trial primary completion date: Oct 2025 --> Dec 2028
    Trial completion date • Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSH2 (MutS Homolog 2) • PRSS1 (Serine Protease 1) • CTRC (Chymotrypsin C)
    |
    PALB2 mutation
    2ms
    A Case of Primary Pulmonary Meningioma With Genetic Characterization and Literature Review. (PubMed, Case Rep Oncol Med)
    Given the emerging role of NGS in identifying tumor-specific mutations, further exploration of the genetic landscape of PPMs is warranted. Recognition of NF2 mutations as potential drivers may open new avenues for targeted therapies and long-term monitoring strategies in affected individuals.
    Journal
    |
    PALB2 (Partner and localizer of BRCA2) • NF2 (Neurofibromin 2) • VIM (Vimentin)
    |
    PALB2 mutation
    2ms
    PROGECT: Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry (clinicaltrials.gov)
    P=N/A, N=1500, Recruiting, University of Kansas Medical Center | Trial completion date: Dec 2025 --> Dec 2026 | Trial primary completion date: Dec 2024 --> Dec 2026
    Trial completion date • Trial primary completion date
    |
    BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • BRCA (Breast cancer early onset)
    |
    TP53 mutation • PTEN deletion • PTEN mutation • PALB2 mutation • BRCA mutation
    2ms
    Emergence of PALB2 Reversion Mutations as a Mechanism of Resistance to Niraparib in Breast Cancer: A Case Report. (PubMed, Cancer Sci)
    The case illustrates both the therapeutic potential of PARP inhibitors in PALB2-mutated cancers and the emergence of resistance. It emphasizes the importance of liquid biopsy-based genomic profiling for understanding tumor evolution and guiding treatment strategies.
    Journal • PARP Biomarker
    |
    PALB2 (Partner and localizer of BRCA2)
    |
    PALB2 mutation
    |
    Zejula (niraparib)