Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families

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• 作者：Helena Rudnicka (1)
  Tadeusz Debniak (1)
  Cezary Cybulski (1)
  Tomasz Huzarski (1)
  Jacek Gronwald (1)
  Jan Lubinski (1)
  Bohdan Gorski (1)
  
• 关键词：BRCA1 ; BRCA2 ; Large gnomic rearrangements ; Breast cancer ; Cancer diagnostics ; Germline mutations
• 刊名：Molecular Biology Reports
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：40
• 期：12
• 页码：6619-6623
• 全文大小：
• 作者单位：Helena Rudnicka (1)
  Tadeusz Debniak (1)
  Cezary Cybulski (1)
  Tomasz Huzarski (1)
  Jacek Gronwald (1)
  Jan Lubinski (1)
  Bohdan Gorski (1)
  
  1. Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115, Szczecin, Poland
  
• ISSN：1573-4978

文摘

BRCA1 and BRCA2 are two major genes associated with familial breast and ovarian cancer susceptibility. In Poland standard BRCA gene test is usually limited to Polish founder BRCA1 mutations: 5382insC, C61G and 4153delA. To date, just a few single large genomic rearrangements (LGRs) of BRCA1 gene have been reported in Poland. Here we report the first comprehensive analysis of large mutations in BRCA1 and BRCA2 genes in this country. We screened LGRs in BRCA1 and BRCA2 genes by multiplex ligation-dependent probe amplification in 200 unrelated patients with strong family history of breast/ovarian cancers and negative for BRCA1 Polish founder mutations. We identified three different LGRs in BRCA1 gene: exons 13-19 deletion, exon 17 deletion and exon 22 deletion. No LGR was detected in BRCA2 genes. Overall, large rearrangements accounted for 3.7?% of all BRCA1 mutation positive families in our population and 1.5?% in high-risk families negative for Polish founder mutation.