ArticleHereditary cancer in clinical practice2016
Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.
Article in Hereditary cancer in clinical practice, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 43 citations in OpenAlex.
- Article
- Frequency of Founder Mutations inCancers · 2026Review
- Hereditary ovarian cancer.Discover oncology · 2026Review
- Identification of Genetic Variants Among Breast Cancer Patients and At-Risk Individuals: A Cohort Study in Sri Lanka.Breast cancer : basic and clinical research · 2026Article
- BRCA1 and BRCA2 germline mutations in Chinese Hakka breast cancer patients.BMC medical genomics · 2024Article
- Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.International journal of molecular sciences · 2023Article
- Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.Biomedicines · 2023Article
- Article
- Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.Cancers · 2023Article
- Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.Journal of applied genetics · 2022Review
- PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.Breast cancer research and treatment · 2022Article
- Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland.Hereditary cancer in clinical practice · 2022Article
- Recurrent Germline BRCA2 Gene Mutation in Lithuanian Family.Medicina (Kaunas, Lithuania) · 2020Article
- Clinical importance of FANCD2, BRIP1, BRCA1, BRCA2 and FANCF expression in ovarian carcinomas.Cancer biology & therapy · 2019Article
- Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.Familial cancer · 2018Article
- BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.PloS one · 2018Article
- Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.Clujul medical (1957) · 2018Article
- Frequency ofHereditary cancer in clinical practice · 2018Article
- Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.BMC cancer · 2017Article
- PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.BMC medical genomics · 2017Article
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15 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the BRCA1, BRCA2 and PALB2 genes are well-established risk factors for the development of breast and/or ovarian cancer. The frequency and spectrum of mutations in these genes has not yet been examined in the population of Southern Poland.
methodsWe examined the entire coding sequences of the BRCA1 and BRCA2 genes and genotyped a recurrent mutation of the PALB2 gene (c.509_510delGA) in 121 women with familial and/or early-onset breast or ovarian cancer from Southern Poland.
resultsA BRCA1 mutation was identified in 11 of 121 patients (9.1 %) and a BRCA2 mutation was identified in 10 of 121 patients (8.3 %). Two founder mutations of BRCA1 accounted for 91 % of all BRCA1 mutation carriers (c.5266dupC was identified in six patients and c.181 T > G was identified in four patients). Three of the seven different BRCA2 mutations were detected in two patients each (c.9371A > T, c.9403delC and c.1310_1313delAAGA). Three mutations have not been previously reported in the Polish population (BRCA1 c.3531delT, BRCA2 c.1310_1313delAAGA and BRCA2 c.9027delT). The recurrent PALB2 mutation c.509_510delGA was identified in two patients (1.7 %).
conclusionsThe standard panel of BRCA1 founder mutations is sufficiently sensitive for the identification of BRCA1 mutation carriers in Southern Poland. The BRCA2 mutations c.9371A > T and c.9403delC as well as the PALB2 mutation c.509_510delGA should be included in the testing panel for this population.
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