Novel BRCA1 mutations and more frequent intron-20 alteration found among 236 women from Western Poland

Krzysztof Sobczak, Piotr Kozłowski, Marek Napierała, Jakub Czarny, Marcin Woźniak, Małgorzata Kapuscinska, Małgorzata Łośko, Magdalena Koziczak, Anna Jasińska, Jolanta Powierska, Ryszard Braczkowski, Jan Brȩborowicz, Dariusz Godlewski, Andrzej Mackiewicz, Włodzimierz Krzyzosiak

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Three different novel BRCA1 mutations, five independent cases of the same 12 bp insertion-duplication in intron-20 and two novel rare BRCA1 sequence variants were identified among 122 Polish women with positive, in most cases moderate family history of breast and/or ovarian cancer, 80 controls and 34 unselected breast cancer tissue specimens. All mutations and variants were germline. The 4153 delA frameshift mutation, the Tyr105Cys missense mutation and two cases of the alteration in intron-20 were found in the group of healthy women with positive family history. Two other cases of the intronic insertion were found in unselected controls. Their carriers had no family history of breast or ovarian cancer but other cancers occurred in their families. The 1782 Trp/STOP nonsense mutation and one case of the insertion in Intron-20 were first found in tissue specimens of breast cancer patient and breast/ovarian cancer patient, respectively. Their carriers also had no family history of breast or ovarian cancer. The distribution of the insertion in intron-20 in analysed groups and results of RT-PCR experiments suggest a less prominent role for this variant considered earlier a splicing mutation. This study shows also, that more population-oriented research is needed, involving women with less profound or even no family history of breast and ovarian cancer, to better understand the role and significance of different BRCA1 variants and mutations.

Original languageEnglish (US)
Pages (from-to)1773-1779
Number of pages7
Issue number15
StatePublished - 1997
Externally publishedYes


  • BRCA1
  • Mutations and variants
  • Polish women
  • Positive family history
  • SSCP-heteroduplex analysis

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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