ArticleFamilial cancer2012
High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer.
Article in Familial cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
- Frequency of Founder Mutations inCancers · 2026Review
- Article
- Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.Journal of applied genetics · 2022Review
- Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland.Hereditary cancer in clinical practice · 2022Article
- Frequency ofHereditary cancer in clinical practice · 2018Article
- Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine.Familial cancer · 2017Article
- PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.BMC medical genomics · 2017Article
- BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.European journal of human genetics : EJHG · 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
- BRCA1 founder mutations do not contribute to increased risk of gastric cancer in the Polish population.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
- New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.BMC medical genomics · 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
- The frequency of BRCA1 founder mutation c.5266dupC (5382insC) in breast cancer patients from Ukraine.Hereditary cancer in clinical practice · 2015Article
- Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.Familial cancer · 2013Article
- Article
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Possession of a BRCA1/2 mutation increases risk of contralateral breast and ovarian cancer recurrence and may have an impact on health management decisions, such as imaging screening, preventive surgical interventions and systemic therapies. A hospital-based study was conducted to assess the frequency and spectrum of pathogenic germline BRCA1 and BRCA2 mutations in Polish women with familial and nonfamilial breast cancer. Genomic DNA was extracted from 1581 women with breast cancer and from 2225 healthy individuals. For genotyping BRCA1 (5382insC, T300G, 3819del5, 185delAG, C5370T, 3875del4, 3896delT, 4153delA, 4184del4, 4160delAG, G5332A) mutations and BRCA2 (G1408T, 5467insT, 6174delT, 6192delAT, 6675delTA, 8138del5, 9152delT, C9610T, 9630delC) mutations, a Custom TaqMan (Applied Biosystems) PCR-based technology was adopted. A BRCA1 mutation was found in 26 and 12.5 % of women with familial breast cancer and in 13 and 8.3 % nonfamilial (sporadic) breast cancer, diagnosed before or after 50 years of age, respectively. A much lower frequency of BRCA2 mutation was observed. The predominance of seven BRCA1 mutations (5382insC, T300G, 3819del5, 185delAG, C5370T, 3875del4, 4153delA) studied in the Masovian voivodeship population confirmed a strong founder effect for BRCA1 mutations in the Polish population, and the results of BRCA2 testing confirmed a high diversity in the studied pathogenic mutations in BRCA2 gene. We propose offering inexpensive testing for the presence of BRCA1 founder mutations to all Polish women at the time of initial breast cancer diagnosis, regardless of the patient's family history or age of disease onset.
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