ArticleBreast cancer research and treatment2011
PALB2 mutations in German and Russian patients with bilateral breast cancer.
Article in Breast cancer research and treatment, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed.
- Clinical and Morphological Features of gPALB2-Associated Breast Cancer in the Russian Population.Bulletin of experimental biology and medicine · 2025Article
- 5'UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin.Familial cancer · 2025Article
- Meta-Analysis of Breast Cancer Risk for Individuals with PALB2 Pathogenic Variants.medRxiv : the preprint server for health sciences · 2024Article
- Pleomorphic/solid lobular carcinoma of male breast with PALB2 germline mutation: case report and literature review.Pathologica · 2024Review
- Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.Cancers · 2023Article
- Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study.Ecancermedicalscience · 2021Article
- Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference.Bioinformation · 2021Article
- Two truncating variants in FANCC and breast cancer risk.Scientific reports · 2019Article
- Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.Cancer research and treatment · 2019Article
- Assessment of the role of translationally controlled tumor protein 1 (TPT1/TCTP) in breast cancer susceptibility and ATM signaling.Clinical and translational radiation oncology · 2019Article
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- PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.BMC medical genomics · 2017Article
- Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey.Molecular biology reports · 2016Article
- Analysis of PALB2 mutations in 155 Japanese patients with breast and/or ovarian cancer.International journal of clinical oncology · 2016Article
- Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer.Familial cancer · 2016Article
- PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.European journal of medical research · 2015Article
- Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.Breast cancer research : BCR · 2015Article
- Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.BMC cancer · 2015Article
- Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.Oncogene · 2014Article
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10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Since germline mutations in the PALB2 (Partner and Localizer of BRCA2) gene have been identified as breast cancer (BC) susceptibility alleles, the geographical spread and risks associated with PALB2 mutations are subject of intense investigation. Patients with bilateral breast cancer constitute a valuable group for genetic studies. We have thus scanned the whole coding region of PALB2 in a total of 203 German or Russian bilateral breast cancer patients using an approach based on high-resolution melting analysis and direct sequencing of genomic DNA samples. Truncating PALB2 mutations were identified in 4/203 (2%) breast cancer patients with bilateral disease. The two nonsense mutations, p.E545X and p.Q921X, have not been previously described whereas the two other mutations, p.R414X and c.509_510delGA, are recurrent. Our results indicate that PALB2 germline mutations account for a small, but not negligible, proportion of bilateral breast carcinomas in German and Russian populations.
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