ArticleJournal of applied genetics2015
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.
Article in Journal of applied genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Frequency of Founder Mutations inCancers · 2026Review
- The Molecular Detection of Germline Mutations in theCurrent issues in molecular biology · 2024Article
- Potential prognostic role of somatic mutations in a set of cancer susceptibility genes in ovarian carcinoma: A follow-up multicentric study from Pakistan.Cancer biomarkers : section A of Disease markers · 2023Article
- Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland.Hereditary cancer in clinical practice · 2022Article
- Identification of the c.829_832delAATA Deletion Variants in theJournal of genomics · 2022Article
- Recurrent Mutations inCancers · 2021Article
- Clinical importance of FANCD2, BRIP1, BRCA1, BRCA2 and FANCF expression in ovarian carcinomas.Cancer biology & therapy · 2019Article
- Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.Cancers · 2018Article
- Transcriptome Signatures of Canine Mammary Gland Tumors and Its Comparison to Human Breast Cancers.Cancers · 2018Article
- BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.PloS one · 2018Article
- Frequency ofHereditary cancer in clinical practice · 2018Article
- Detection ofOncotarget · 2017Article
- Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.Cancer medicine · 2016Article
- Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.Hereditary cancer in clinical practice · 2016Article
- New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.BMC medical genomics · 2015Article
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Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The importance of proper mutational analysis of BRCA1/2 in individuals at risk for hereditary breast and ovarian cancer syndrome is widely accepted. Standard genetic screening includes targeted analysis of recurrent, population-specific mutations. The purpose of the study was to establish the frequency of germline BRCA1/2 mutations in a group of 134 unrelated patients with primary ovarian cancer. Next generation sequencing analysis revealed a presence of 20 (14.9%) mutations, where 65% (n = 13) were recurrent BRCA1 alterations included in the standard diagnostic panel in northern Poland. However, the remaining seven BRCA1/2 mutations (35%) would be missed by the standard approach and were detected in unique patients. A substantial proportion (n = 5/12; 41%) of mutation-positive individuals with complete family history reported no incidence of breast or ovarian cancer in their relatives. This observation, together with the raising perspectives for personalized therapy targeting BRCA1/2 signaling pathways indicates the necessity of comprehensive genetic screening in all ovarian cancer patients. However, due to the limited sensitivity of the standard genetic screening presented in this study (65%) an application of next generation sequencing in molecular diagnostics of BRCA1/2 genes should be considered.
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