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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
Metabolomic-driven prediction of the mutational status of healthy individuals with a family history of hereditary breast and ovarian cancer syndrome: the HRRmet study. (PubMed, Sci Rep)
The present study is the first to characterize the phenotype associated with the HRR-deficient genotype in healthy individuals with a familial history of HBOC. Metabolomic profiles may be useful for differentiating carriers from noncarriers of PVs in the HRR genes, and therefore, with potential predictive capacity of the HRR germline mutational status.
Journal • BRCA Biomarker • Metabolomic study
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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) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A)
3d
Male breast health and breast cancer risk. (PubMed, Maturitas)
Management strategies for male breast cancer generally parallel female protocols, despite unique biological features. By integrating considerations of benign and malignant conditions, this review underscores the importance of tailored evaluation, risk assessment, and individualized care for males, while identifying knowledge gaps to inform future research and improve outcomes in this under-recognized population.
Review • 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) • CHEK2 (Checkpoint kinase 2)
4d
Risk-Reducing Mastectomy in BRCA1/2 and Other High-Risk Gene Carriers: Current Evidence and Practical Guidance. (PubMed, J Breast Cancer)
This review integrates the current evidence and evolving guidelines to clarify the benefits, limitations, and controversies surrounding RRM. By addressing existing knowledge gaps and decision-making challenges, it aims to facilitate informed patient-centered counseling for the management of hereditary breast cancer.
Review • Journal
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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) • PALB2 (Partner and localizer of BRCA2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2)
5d
Results of a multigene panel testing approach targeting patients with suspected genetic predisposition to pancreatic ductal adenocarcinoma. (PubMed, Eur J Hum Genet)
An exploratory approach consisting of unmasking the results of the NGS analysis of 123 « research » genes involved in the carcinogenesis was applied to the 447 patients tested negative for the different genes of our diagnostic panel. This approach failed to identify other susceptibility genes to pancreatic adenocarcinoma.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • 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) • PMS2 (PMS1 protein homolog 2) • APC (APC Regulator Of WNT Signaling Pathway) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)
6d
TBCRC 048 (Olaparib Expanded) Expansion Cohorts: Phase II Study of Olaparib Monotherapy for Patients With Metastatic Breast Cancer With Germline Mutations in PALB2 or Somatic Mutations in BRCA1 or BRCA2. (PubMed, J Clin Oncol)
Olaparib is active in pts with MBC with gPALB2m and sBRCAm, significantly expanding the population of pts with breast cancer likely to benefit from PARP inhibitors beyond gBRCA1/2m carriers.
P2 data • Journal • BRCA Biomarker • PARP Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset)
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ER positive • HER-2 negative • PALB2 mutation • EGFR positive • BRCA mutation
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Lynparza (olaparib)
6d
Prognostic value and experimental validation of atherosclerosis-derived pathogenic genes in colorectal cancer. (PubMed, Front Oncol)
A CRC risk model based on 6 AS-related genes was developed, identifying 3 novel AS genes. It highlights shared genetic factors, offering prognostic biomarkers for both diseases and insights into their interconnected mechanisms.
Journal
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PALB2 (Partner and localizer of BRCA2) • CDC25C (Cell Division Cycle 25C) • GNRP (Ras-Specific Guanine Nucleotide-Releasing Factor 1) • HMMR (Hyaluronan Mediated Motility Receptor) • KPNA2 (Karyopherin Subunit Alpha 2) • PRR11 (Proline Rich 11)
6d
Male Breast Cancer in Serbia: A 33-Year Retrospective Cohort Study of Genetic Predisposition, Clinicopathological Features, and Survival Outcomes. (PubMed, Cancers (Basel))
Median overall survival (OS) 131 months (1-, 2-, 5-, 10-year OS: 95%, 93%, 73%, 53%). This long-term cohort highlights the predominance of hormone-receptor positivity, the infrequency of germline mutations, and moderate survival rates, informing patient management and guiding future studies.
Retrospective data • Journal • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • 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)
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HER-2 overexpression
6d
An Inducible BRCA1 Expression System with In Vivo Applicability Uncovers Activity of the Combination of ATR and PARP Inhibitors to Overcome Therapy Resistance. (PubMed, Cancers (Basel))
Our findings identify a dose-dependent, hypomorphic HRR restoration by ∆exon11 BRCA1, help explain the variable resistance observed in BRCA1-mutant pre-clinical models expressing this hypomorph, and propose ATR inhibition in combination with PARPi as a clinical strategy to counteract therapeutic resistance mediated by ∆exon11 BRCA1 hypomorphs.
Preclinical • Journal • BRCA Biomarker • PARP 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) • RAD51 (RAD51 Homolog A)
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Lynparza (olaparib) • carboplatin • ceralasertib (AZD6738)
7d
SOGUG Multidisciplinary Expert Panel Consensus on Updated Diagnosis and Characterization of Prostate Cancer Patients. (PubMed, Curr Oncol)
Genomic classifier tools help identifying aggressiveness of cancers and aid in personalized treatment decision-making. Joint efforts of multidisciplinary physicians are crucial to improve health outcomes for patients with PCa across the spectrum of this disease.
Review • 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) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • EPCAM (Epithelial cell adhesion molecule) • HOXB13 (Homeobox B13)
10d
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk. (PubMed, Nat Commun)
A burden-type analysis shows that damaging missense variants in PALB2 are associated with a significantly increased risk of breast cancer, similar to that observed for truncating variants. These results will be valuable for the classification of PALB2 missense VUS and clinical management of carriers.
Journal • PARP Biomarker
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PALB2 (Partner and localizer of BRCA2)
12d
Hereditary Risk Assessment of Cancer Using Clinical History in Patients Diagnosed with Breast or Ovarian Cancer Receiving Treatment at Tertiary Care Hospital in Western Rajasthan - A Cross-sectional Study. (PubMed, Ann Afr Med)
Genetic counseling and testing for patients diagnosed with breast or OC can identify HBOC risk, reducing complications and mitigating lifetime cancer risk through timely assessment and awareness.
Observational data • 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) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)
14d
Synergistic Effect of Fecal Microbiota Transplantation, γδT Cell Immunotherapy, and Pembrolizumab in Refractory Advanced Pancreatic Cancer: A Case Report. (PubMed, J Gastrointest Cancer)
This case suggests that FMT combined with γδ T cell therapy may be a promising immunotherapeutic strategy for advanced PC. Further studies are needed to validate these findings.
Journal • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MUC16 (Mucin 16, Cell Surface Associated) • CA 19-9 (Cancer antigen 19-9)
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PALB2 mutation
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Keytruda (pembrolizumab)