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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
    3d
    A Case Report: A Rare Casr Mutation Associated with HER2-Positive Breast Cancer. (PubMed, Exp Oncol)
    The patient underwent neoadjuvant chemothera- py, right-sided mastectomy, and trastuzumab therapy, achieving complete pathological regression (pCR) with no recur- rence after ten months of follow-up. Although the CASR p.Glu755Asp variant's pathogenic role is unproven, emerging evidence links CASR overexpression with hER2-positive breast cancers, promoting tumor progression via calcium- dependent signaling pathways (PI3K/AKt, MAPK). This case highlights the potential role of CASR as a low-penetrance susceptibility gene in breast cancer and supports further functional and genomic studies to clarify its clinical impact.
    Journal • BRCA Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • CASR (Calcium Sensing Receptor)
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    HER-2 positive • BRCA2 mutation • BRCA1 mutation • HER-2 overexpression • HER-2 mutation • PALB2 mutation • ER negative • CHEK2 mutation • HER-2 positive + HER-2 overexpression
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    Herceptin (trastuzumab)
    5d
    Prevalence of Helicobacter pylori Exposure and Risk Factors Among BRCA1 and BRCA2 Carriers. (PubMed, Int J Cancer)
    Approximately 1 in 6 BRCA1, BRCA2, and other DNA repair-related gene PGV carriers had Hp exposure. Future studies are needed to determine the impact of Hp exposure versus active Hp infection on GC risk in these high-risk individuals.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2)
    10d
    Clinicopathologic characteristics of early-onset breast cancer among unselected young Black women. (PubMed, Cancer)
    Among unselected young Black women with breast cancer, our findings demonstrate that the highest frequency of HBC GPVs are in BRCA1, BRCA2, and PALB2, with identification of distinct histopathologic and demographic characteristics across HBC genes, underscoring the critical need for genetic testing in all populations.
    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)
    13d
    Are current Polish guidelines for prophylactic mastectomy sufficient? (PubMed, Hered Cancer Clin Pract)
    Current, evidence based data supports extending the qualification criteria for prophylactic mastectomy among TP53, PTEN, PALB and CHEK2 PV carriers.
    Review • Journal
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    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
    14d
    CXorf67 in malignancies: Deciphering epigenetic landscapes and clinical implications for precision oncology. (PubMed, Genes Dis)
    However, further research is needed to explore its functions in other cancers and clarify its molecular mechanisms. Our review synthesizes current knowledge on CXorf67's biological significance, particularly in epigenetics and DNA damage, and its implications in oncogenesis.
    Review • Journal
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • SUZ12 (SUZ12 Polycomb Repressive Complex 2 Subunit)
    15d
    Germline Predisposition in Pediatric Central Nervous System Tumors: Insights from a Multigene Panel Study. (PubMed, Oncol Res)
    Germline P/LP mutations were identified in 15.7% of Korean children and AYAs with CNS tumors, most commonly in gliomas and other CNS tumors. Our findings highlight the molecular heterogeneity of germline predisposition in CNS tumors and emphasize the importance of germline testing for risk assessment and surveillance.
    Journal
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    TP53 (Tumor protein P53) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MUTYH (MutY homolog) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M)
    15d
    Communication With Clinicians and Relatives About Cascade Genetic Testing in Cancer Patients With Germline Pathogenic Variants. (PubMed, JCO Precis Oncol)
    Patients with cancer are motivated to communicate PV results to relatives. However, few clinicians are involved and relatives' testing remains low. Novel care delivery models are needed to advance cascade testing and precision risk reduction.
    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) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)
    15d
    Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers in two large cohort studies. (PubMed, BJC Rep)
    BC survivors carrying BRCA1, BRCA2, and CHEK2 PVs and ER-negative BC survivors carrying PALB2 PVs are at two-fold or higher CBC risks. These estimates may assist clinical decision making for management of the contralateral breast.
    Journal • BRCA Biomarker
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    ER (Estrogen receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
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    ER positive • ER negative
    20d
    Pangeia-2: Minimally Interventional Study on Prevalence of Emerging ESR1 Mutations in Liquid Biopsy in Three Cohorts of Patients With Breast Cancer in Comparison With Patient's Baseline ESR1 Mutation Status as Defined by Tissue Profiling. (clinicaltrials.gov)
    P=N/A, N=170, Recruiting, AstraZeneca | N=70 --> 170
    Enrollment change • Liquid biopsy
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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)
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    HER-2 negative • HER-2 mutation • PTEN mutation • PGR positive
    22d
    Genomic Biomarkers for First-Line Treatment Selection in Metastatic Pancreatic Ductal Adenocarcinoma: A Narrative Review. (PubMed, Cancers (Basel))
    Metastatic pancreatic ductal adenocarcinoma (PDAC) is typically treated with fluorouracil, leucovorin, irinotecan, and oxaliplatin (FOLFIRINOX) or gemcitabine plus nab-paclitaxel (GnP), but the choice between regimens remains largely empirical. Importantly, no biomarker has yet been prospectively validated in a biomarker-stratified randomized trial with regimen selection as the primary endpoint; all biomarker-regimen associations described in this review should therefore be considered hypothesis-generating rather than practice-defining. Nevertheless, the convergence of genomic, transcriptomic, and organoid-based approaches makes biologically informed first-line selection increasingly feasible in metastatic PDAC.
    Review • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • TUBB3 (Tubulin beta 3 class III) • GATA6 (GATA Binding Protein 6) • SLC29A1 (Solute Carrier Family 29 Member 1)
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    gemcitabine • 5-fluorouracil • albumin-bound paclitaxel • oxaliplatin • irinotecan • leucovorin calcium
    22d
    Hereditary breast cancer : Syndromes, pathology, clinical aspects (PubMed, Pathologie (Heidelb))
    There are also therapeutic implications, such as the use of PARP inhibitors in BRCA1/2-associated HER2-negative breast cancer. Predictive genetic testing may be considered for relatives as well as intensified early detection programs and risk-reducing surgery, if necessary.Close interdisciplinary cooperation is therefore crucial in order to identify patients with possible hereditary tumorigenesis at an early stage and to enable an individualized therapy and follow-up care strategy.
    Review • Journal • BRCA Biomarker • PARP Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • HRD (Homologous Recombination Deficiency) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
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    BRCA1 mutation • HER-2 negative
    24d
    Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls. (PubMed, medRxiv)
    A combined LLR was produced for 4,690 missense variants; 927 variants received evidence towards pathogenicity (LLR≥ 1), and 3,242 received evidence towards benignity (LLR≤ -1). This flexible, variant-level methodology combines nationally-collected 'enriched' datasets with unselected case-control cohorts, expanding the available information for case-control analysis, boosting power, enabling exploration of atypical penetrance and empowering variant classification.
    Journal
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)