Analysis of APC promoter 1B deletions in Russian families with familial adenomatous polyposis - Takeaways - MDSpire
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Investigation of Deletions in APC Promoter 1B Among Russian Families Affected by Familial Adenomatous Polyposis

  • By

  • Aleksey S. Tsukanov

  • Sergey I. Achkasov

  • Anna N. Loginova

  • Dmitry Yu. Pikunov

  • Vitaly P. Shubin

  • Aleksandra S. Monakhova

  • Anastasiia V. Kashchenko

  • Yulia M. Suvorova

  • Evgeny I. Klimuk

  • Konstantin V. Severinov

  • August 19, 2026

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  • 1

    Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary cancer syndrome with nearly 100% colorectal cancer risk if untreated.

  • 2

    The study investigated APC 1B promoter deletions in five unrelated Russian FAP patients, revealing unique deletion boundaries without a founder effect.

  • 3

    Deletions in the APC 1B promoter ranged from approximately 3 kbp to 122 kbp, with no correlation to disease onset or severity.

  • 4

    Whole-genome sequencing did not provide additional diagnostic advantages over multiplex ligation-dependent probe amplification for these deletions.

  • 5

    The research adhered to ethical standards and involved informed consent from all participants, including a minor diagnosed with FAP.

Original Source(s)

Analysis of APC promoter 1B deletions in Russian families with familial adenomatous polyposis

  • by Aleksey S. Tsukanov, Sergey I. Achkasov, Anna N. Loginova, Dmitry Yu. Pikunov, Vitaly P. Shubin, Aleksandra S. Monakhova, Anastasiia V. Kashchenko, Yulia M. Suvorova, Evgeny I. Klimuk, Konstantin V. Severinov

  • August 19, 2026

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