ArticlePloS one2013
Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
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- Germline and somatic mutational variants of Tunisian high grade serous ovarian cancer identified by next-generation sequencing.BMC cancer · 2025Article
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- The Molecular Detection of Germline Mutations in theCurrent issues in molecular biology · 2024Article
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- Identification and clinical significance of somatic oncogenic mutations in epithelial ovarian cancer.Journal of ovarian research · 2021Article
- The Prognostic and Predictive Role of SomaticDiagnostics (Basel, Switzerland) · 2021Article
- Tumour Versus GermlineDiagnostics (Basel, Switzerland) · 2021Article
- Genotyping data of routinely processed matched primary/metastatic tumor samples.Data in brief · 2021Article
- Molecular Biomarkers for Early Detection and Prevention of Ovarian Cancer-A Gateway for Good Prognosis: A Narrative Review.International journal of preventive medicine · 2020Review
- Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India.Genetics and molecular biology · 2020Article
- Prevalence and oncologic outcomes ofObstetrics & gynecology science · 2019Article
- Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study.Journal of ovarian research · 2019Observational
- Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients.Cancer medicine · 2019Article
- Disease evolution and heterogeneity in bilateral breast cancer.American journal of cancer research · 2016Article
- Potential impact of (rs 4645878) BAX promoter -248G>A and (rs 1042522) TP53 72Arg>pro polymorphisms on epithelial ovarian cancer patients.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2016Article
- Deregulation of the EGFR/PI3K/PTEN/Akt/mTORC1 pathway in breast cancer: possibilities for therapeutic intervention.Oncotarget · 2014Review
- BRCA-associated ovarian cancer: from molecular genetics to risk management.BioMed research international · 2014Review
Corrections and comments
- Erratum issued
Authors and funding
20 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%. A variable incidence of mutations has been reported for these genes in ovarian cancer cases from different populations. In Greece, six mutations in BRCA1 account for 63% of all mutations detected in both BRCA1 and BRCA2 genes. This study aimed to determine the prevalence of BRCA1 mutations in a Greek cohort of 106 familial ovarian cancer patients that had strong family history or metachronous breast cancer and 592 sporadic ovarian cancer cases. All 698 patients were screened for the six recurrent Greek mutations (including founder mutations c.5266dupC, p.G1738R and the three large deletions of exon 20, exons 23-24 and exon 24). In familial cases, the BRCA1 gene was consequently screened for exons 5, 11, 12, 20, 21, 22, 23, 24. A deleterious BRCA1 mutation was found in 43/106 (40.6%) of familial cancer cases and in 27/592 (4.6%) of sporadic cases. The variant of unknown clinical significance p.V1833M was identified in 9/698 patients (1.3%). The majority of BRCA1 carriers (71.2%) presented a high-grade serous phenotype. Identifying a mutation in the BRCA1 gene among breast and/or ovarian cancer families is important, as it enables carriers to take preventive measures. All ovarian cancer patients with a serous phenotype should be considered for genetic testing. Further studies are warranted to determine the prevalence of mutations in the rest of the BRCA1 gene, in the BRCA2 gene, and other novel predisposing genes for breast and ovarian cancer.
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