ArticleMolecular biology reports2013
Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families.
Article in Molecular biology reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Copy number variants in BRCA1 and BRCA2 genes in Polish patients with breast and ovarian cancer.Journal of cancer research and clinical oncology · 2026Article
- Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis.Molecular oncology · 2023Article
- Article
- Germline Structural Variations in Cancer Predisposition Genes.Frontiers in genetics · 2021Review
- Complex Characterization of Germline Large Genomic Rearrangements of theInternational journal of molecular sciences · 2020Article
- Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.Breast cancer research and treatment · 2017Article
- New challenges for BRCA testing: a view from the diagnostic laboratory.European journal of human genetics : EJHG · 2016Review
- Genomic rearrangement screening of theJournal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2016Article
- Secondary Primary Malignancy Risk in Patients With Ovarian Cancer in Taiwan: A Nationwide Population-Based Study.Medicine · 2015Observational
- Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.Journal of applied genetics · 2015Article
- BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.Genetics and molecular biologyArticle
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Authors and funding
7 authors.
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Abstract
BRCA1 and BRCA2 are two major genes associated with familial breast and ovarian cancer susceptibility. In Poland standard BRCA gene test is usually limited to Polish founder BRCA1 mutations: 5382insC, C61G and 4153delA. To date, just a few single large genomic rearrangements (LGRs) of BRCA1 gene have been reported in Poland. Here we report the first comprehensive analysis of large mutations in BRCA1 and BRCA2 genes in this country. We screened LGRs in BRCA1 and BRCA2 genes by multiplex ligation-dependent probe amplification in 200 unrelated patients with strong family history of breast/ovarian cancers and negative for BRCA1 Polish founder mutations. We identified three different LGRs in BRCA1 gene: exons 13-19 deletion, exon 17 deletion and exon 22 deletion. No LGR was detected in BRCA2 genes. Overall, large rearrangements accounted for 3.7 % of all BRCA1 mutation positive families in our population and 1.5 % in high-risk families negative for Polish founder mutation.
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