ArticleBMC medical genetics2011
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 40 citations in OpenAlex.
- High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.International journal of molecular sciences · 2024Article
- The Molecular Detection of Germline Mutations in theCurrent issues in molecular biology · 2024Article
- Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.Scientific reports · 2023Article
- Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.Cancers · 2023Article
- Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.Hereditary cancer in clinical practice · 2022Article
- Hereditary variants of unknown significance in African American women with breast cancer.PloS one · 2022Article
- Article
- Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.Breast cancer research and treatment · 2021Article
- Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco.BMC cancer · 2020Article
- The prevalence of occult ovarian cancer in the series of 155 consequently operated high risk asymptomatic patients - Slovenian population based study.Radiology and oncology · 2020Article
- Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients.Diagnostics (Basel, Switzerland) · 2020Article
- Spectrum and prevalence ofHereditary cancer in clinical practice · 2019Article
- Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin.Familial cancer · 2018Article
- Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.Clujul medical (1957) · 2018Article
- Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age.Radiology and oncology · 2017Article
- Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.Familial cancer · 2017Article
- Evaluation of BRCA1/2 mutational status among German and Austrian women with triple-negative breast cancer.Journal of cancer research and clinical oncology · 2015Article
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
- Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.International journal of oncology · 2012Article
- Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.Familial cancer · 2012Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundthe BRCA1 and BRCA2 mutation spectrum and mutation detection rates according to different family histories were investigated in 521 subjects from 322 unrelated Slovenian cancer families with breast and/or ovarian cancer.
methodsthe BRCA1 and BRCA2 genes were screened using DGGE, PTT, HRM, MLPA and direct sequencing.
resultseighteen different mutations were found in BRCA1 and 13 in BRCA2 gene. Mutations in one or other gene were found in 96 unrelated families. The mutation detection rates were the highest in the families with at least one breast and at least one ovarian cancer - 42% for BRCA1 and 8% for BRCA2. The mutation detection rate observed in the families with at least two breast cancers with disease onset before the age of 50 years and no ovarian cancer was 23% for BRCA1 and 13% for BRCA2. The mutation detection rate in the families with at least two breast cancers and only one with the disease onset before the age of 50 years was 11% for BRCA1 and 8% for BRCA2. In the families with at least two breast cancers, all of them with disease onset over the age of 50 years, the detection rate was 5% for BRCA2 and 0% for BRCA1.
conclusionamong the mutations detected in Slovenian population, 5 mutations in BRCA1 and 4 mutations in BRCA2 have not been described in other populations until now. The most frequent mutations in our population were c.181T > G, c.1687C > T, c.5266dupC and c.844_850dupTCATTAC in BRCA1 gene and c.7806-2A > G, c.5291C > G and c.3978insTGCT in BRCA2 gene (detected in 69% of BRCA1 and BRCA2 positive families).
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