The occurrence of germline BRCA1 and BRCA2sequence alterations in Slovenian population

BMC Medical Genetics

Research Article

Vida Stegel¹  Srdjan Novaković¹  Janez Žgajnar²  Marko Hočevar²  Jacques De Grève³  Erik Teugels³  Mateja Krajc⁴ 

[1] Department of Molecular Diagnostics, Institute of Oncology Ljubljana, Zaloska 2, 1000, Ljubljana, Slovenia;Department of Surgical Oncology, Institute of Oncology Ljubljana, Zaloska 2, 1000, Ljubljana, Slovenia;Laboratory of Molecular Oncology, Oncologisch Centrum UZ Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium;Unit of Genetic Counseling, Institute of Oncology Ljubljana, Zaloska 2, 1000, Ljubljana, Slovenia;

关键词: Breast Cancer;    Ovarian Cancer;    BRCA2 Mutation;    Lynch Syndrome;    BRCA2 Gene;   

DOI  :  10.1186/1471-2350-12-9

 received in 2010-10-15, accepted in 2011-01-14,  发布年份 2011

来源: Springer

【 摘 要 】

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).

【 授权许可】

Unknown   
© Stegel et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.