ArticleBMC medical genetics2010
A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.
Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 1 of them a synthesis that pooled it.
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Who cites it
69 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.
- A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.Journal of human genetics · 2020Pooled it
- Insights into Ovarian Cancer: Unraveling the Role of DNA Double-strand Break-related Genes in Pathogenesis and Therapeutic Avenues.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- Clinical and Morphological Features of gPALB2-Associated Breast Cancer in the Russian Population.Bulletin of experimental biology and medicine · 2025Article
- Impact of Molecular Profiling on Therapy Management in Breast Cancer.Journal of clinical medicine · 2024Review
- Meta-Analysis of Breast Cancer Risk for Individuals with PALB2 Pathogenic Variants.medRxiv : the preprint server for health sciences · 2024Article
- Management of PALB2-associated breast cancer: A literature review and case report.Clinical case reports · 2023Article
- Mutations ofGenes · 2023Article
- PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients.Scientific reports · 2023Article
- Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.Cancers · 2023Article
- Article
- Recurrent Mutations inCancers · 2021Article
- Recurrent PALB2 mutations and the risk of cancers of bladder or kidney in Polish population.Hereditary cancer in clinical practice · 2021Article
- Identification of a novel pathogenic variant inJournal of genomics · 2021Article
- Case Report: Effectiveness of Targeted Treatment in a Patient With Pancreatic Cancer Harboring PALB2 Germline Mutation and KRAS Somatic Mutation.Frontiers in medicine · 2021Article
- Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland.Cancers · 2020Article
- A germlineCold Spring Harbor molecular case studies · 2020Article
- Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.Frontiers in oncology · 2020Review
- Olaparib for metastatic breast cancer in a patient with a germlineNPJ breast cancer · 2020Article
- A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.Nucleic acids research · 2019Article
- Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway.Endocrine pathology · 2019Article
9 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPALB2 protein was recently identified as a partner of BRCA1 and BRCA2 which determines their proper function in DNA repair.
methodsInitially, the entire coding sequence of the PALB2 gene with exon/intron boundaries was evaluated by the PCR-SSCP and direct sequencing methods on 70 ovarian carcinomas. Sequence variants of interest were further studied on enlarged groups of ovarian carcinomas (total 339 non-consecutive ovarian carcinomas), blood samples from 334 consecutive sporadic and 648 consecutive familial breast cancer patients, and 1310 healthy controls from central Poland.
resultsTen types of sequence variants were detected, and among them four novel polymorphisms: c.2996+58T>C in intron 9; c.505C>A (p.L169I), c.618T>G (p.L206L), both in exon 4; and c.2135C>T (A712V) in exon 5 of the PALB2 gene. Another two polymorphisms, c.212-58A>C and c.2014G>C (E672Q) were always detected together, both in cancer (7.5% of patients) and control samples (4.9% of controls, p = 0.2). A novel germline truncating mutation, c.509_510delGA (p.R170fs) was found in exon 4: in 2 of 339 (0.6%) unrelated ovarian cancer patients, in 4 of 648 (0.6%) unrelated familial breast cancer patients, and in 1 of 1310 controls (0.08%, p = 0.1, p = 0.044, respectively). One ovarian cancer patient with the PALB2 mutation had also a germline nonsense mutation of the BRCA2 gene.
conclusionsThe c.509_510delGA is a novel PALB2 mutation that increases the risk of familial breast cancer. Occurrence of the same PALB2 alteration in seven unrelated women suggests that c.509_510delGA (p.R170fs) is a recurrent mutation for Polish population.
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