ArticleJournal of applied genetics2011
Prevalence of the most frequent BRCA1 mutations in Polish population.
Article in Journal of applied genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 49 citations in OpenAlex.
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- The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant inCurrent oncology (Toronto, Ont.) · 2025Article
- Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women.BMC women's health · 2025Article
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- Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.Journal of applied genetics · 2022Review
- The highest frequency ofReports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology · 2022Article
- Genetic testing in Poland and Ukraine: should comprehensive germline testing ofGenetics research · 2020Article
- Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.Cancers · 2018Article
- Mutations in context: implications of BRCA testing in diverse populations.Familial cancer · 2018Review
- Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.Precision clinical medicine · 2018Review
- Establishment and Characterization of the Novel High-Grade Serous Ovarian Cancer Cell Line OVPA8.International journal of molecular sciences · 2018Article
- Genetics of breast cancer in African populations: a literature review.Global health, epidemiology and genomics · 2018Review
- 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
- Acceptance of, inclination for, and barriers in genetic testing for gene mutations that increase the risk of breast and ovarian cancers among female residents of Warsaw.Contemporary oncology (Poznan, Poland) · 2016Article
- Lipid peroxidation and glutathione peroxidase activity relationship in breast cancer depends on functional polymorphism of GPX1.BMC cancer · 2015Article
- 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
- Establishing a clinic-based pancreatic cancer and periampullary tumour research registry in Quebec.Current oncology (Toronto, Ont.) · 2015Article
- The risk factors of toxicity during chemotherapy and radiotherapy in breast cancer patients according to the presence of BRCA gene mutation.Contemporary oncology (Poznan, Poland) · 2015Article
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Authors and funding
21 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The purpose of our study was to establish the frequency and distribution of the four most common BRCA1 mutations in Polish general population and in a series of breast cancer patients. Analysis of the population frequency of 5382insC (c.5266dupC), 300T >G (p.181T >G), 185delAG (c.68_69delAG) and 3819del5 (c.3700_3704del5) mutations of the BRCA1 gene were performed on a group of respectively 16,849, 13,462, 12,485 and 3923 anonymous samples collected at birth in seven Polish provinces. The patient group consisted of 1845 consecutive female breast cancer cases. The most frequent BRCA1 mutation in the general population was 5382insC found in 29 out of 16,849 samples (0.17%). 300T >G and 3819del5 mutations were found in respectively 11 of 13,462 (0.08%) and four of 3923 (0.1%) samples. The population prevalence for combined Polish founder 5382insC and 300T >G mutations was 0.25% (1/400). The frequencies of 5382insC and 300T >G carriers among consecutive breast cancer cases were, respectively, 1.9% (35/1845) and 1.2% (18/1486). Comparing these data with the population frequency, we calculated the relative risk of breast cancer for 5382insC mutation at OR = 17 and for 300T >G mutation at OR = 26. Our results, based on large population studies, show high frequencies of founder 5382insC and 300T >G BRCA1 mutations in Polish general population. Carriage of one of these mutations is connected with a very high relative risk of breast cancer.
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