ArticleBMC medical genetics2011
A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 37 citations in OpenAlex.
- Case report: a rare BRCA1 de novo variant in a female with breast cancer.Hereditary cancer in clinical practice · 2026Article
- Decoding BRCA1 promoter hypermethylation: a new frontier in understanding sporadic breast cancer.Cancer gene therapy · 2025Article
- Double heterozygosity forBMJ case reports · 2025Article
- Novel De NovoInternational journal of molecular sciences · 2025Article
- A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis.Familial cancer · 2024Article
- Tracking updates in clinical databases increases efficiency for variant reanalysis.Genetics in medicine open · 2024Article
- Comprehensive Analysis of the Significance of Breast Cancer Gene 1 (BRCA-1) in Bladder Cancer.Cancer management and research · 2024Article
- A New de novoThe application of clinical genetics · 2023Article
- Long Non-Coding RNA Neighbor of BRCA1 Gene 2: A Crucial Regulator in Cancer Biology.Frontiers in oncology · 2021Review
- The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.BMC cancer · 2020Article
- Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.Breast cancer research and treatment · 2018Article
- Comprehensive single-cell transcriptome analysis reveals heterogeneity in endometrioid adenocarcinoma tissues.Scientific reports · 2017Article
- Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.Molecular diagnosis & therapy · 2017Article
- [BRCA diagnostics of ovarian cancer : Molecular tumor testing since the introduction of PARP inhibitor therapy].Der Pathologe · 2017Article
- Article
- NBR2: A former junk gene emerges as a key player in tumor suppression.Molecular & cellular oncology · 2016Article
- Article
- Genomic rearrangement screening of theJournal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2016Article
- Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.British journal of cancer · 2015Article
- A DNA repair variant in POLQ (c.-1060A > G) is associated to hereditary breast cancer patients: a case-control study.BMC cancer · 2014Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGermline mutations in either of the two tumor-suppressor genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast and ovarian cancer cases. Most of these mutations consist of deletions, insertions, nonsense mutations, and splice variants, however an increasing number of large genomic rearrangements have been identified in these genes.
methodsWe analysed BRCA1 and BRCA2 genes by direct sequencing and MLPA. We confirmed the results by an alternative MLPA kit and characterized the BRCA1 deletion by Array CGH.
resultsWe describe the first case of a patient with no strong family history of the disease who developed early-onset bilateral breast cancer with a de novo complete BRCA1 gene deletion in the germinal line. The detected deletion started from the region surrounding the VAT1 locus to the beginning of NBR1 gene, including the RND2, ΨBRCA1, BRCA1 and NBR2 complete genes.
conclusionThis finding supports the large genomic rearrangement screening of BRCA genes in young breast cancer patients without family history, as well as in hereditary breast and ovarian cancer families previously tested negative for other variations.
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