Publications by authors named "Oleg L Chagunava"

Article Synopsis
  • Previous studies suggest that founder mutations contribute significantly to breast cancer risk in Russia.
  • A systematic analysis was conducted on 302 breast cancer cases, focusing on specific hereditary indicators such as early onset and family history.
  • The study identified that 15.2% of patients carried mutations linked to breast cancer, with the BRCA1 5382insC mutation being the most common among them, highlighting the potential of targeted genetic testing for diagnosis.
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This study was aimed to assess the role of CHEK2 1100delC mutation in breast cancer (BC) predisposition in Russia. The 1100delC allele was detected in 14/660 (2.1%) unilateral BC cases and in 8/155 (5.

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BRCA1 5382insC variant was repeatedly detected in Jewish breast cancer (BC) families residing in USA and Israel as well as in non-Jewish familial BC patients from Poland, Latvia, Hungary, Russia and some other European countries. However, the distribution of BRCA1 5382insC mutation in unselected BC cases vs. controls has been systematically investigated mainly in Ashkenazi Jews.

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The gene for Nijmegen chromosomal breakage syndrome (NBS1) plays a role in a variety of processes protecting chromosomal stability. Recently, it was suggested in a Polish case-control study that the founder hypomorphic mutation in NBS1, 657del5, which occurs in approximately 0.5% of Slavic subjects, may be associated with an increased risk of breast cancer (BC).

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