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      • Department of Molecular Biology and Genetics
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      Germ line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients

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      Author(s)
      Özdag, H.
      Tez, M.
      Sayek, I.
      Müslümanoglu, M.
      Tarcan, O.
      Içli, F.
      Öztürk, M.
      Özçelik, T.
      Date
      2000-10
      Source Title
      European Journal of Cancer
      Print ISSN
      0959-8049
      Publisher
      Elsevier
      Volume
      36
      Issue
      16
      Pages
      2076 - 2082
      Language
      English
      Type
      Article
      Item Usage Stats
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      Abstract
      Germ line BRCA1 and/or BRCA2 mutations were screened in 50 Turkish breast and/or ovarian cancer patients composed of hereditary, familial, early onset and male cancer groups. Genomic DNA samples were tested by heteroduplex analysis and DNA sequencing. Two truncating BRCA2 mutations, one novel (6880 insG) and one previously reported (3034 delAAAC), were found in two out of six (33%) hereditary breast and/or ovarian cancer patients. A novel truncating (1200 insA) and a missense (2080A→G) BRCA1 mutation was found in two of 27 (7%) individuals in the early onset group. A total of four (8%) disease-causing mutations in 50 breast cancer patients were identified in BRCA1 and BRCA2 genes. In addition, five BRCA1 sequence variants have been identified in 23 patients. These results indicate that BRCA1 and BRCA2 genes are involved in some, but not all, forms of hereditary predisposition to breast cancer in the Turkish population.
      Keywords
      Brca1
      Brca2
      Germ line mutation
      Hereditary breast/ovarian cancer
      Permalink
      http://hdl.handle.net/11693/11152
      Published Version (Please cite this version)
      http://dx.doi.org/10.1016/S0959-8049(00)00277-X
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