Biopolym. Cell. 2024; 40(3):195-195.
Chronicle and Information
Identification of oncogenic mutations in a pedigree affected by inherited cancers: A case report
1Bezverkhiy A. M., 2Kropelnytskyi V. O., 1Gulkovskyi R. V.
  1. Institute of Molecular Biology and Genetics, NAS of Ukraine
    150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03143
  2. O.O. Shalimov National Scientific Center of Surgery and Transplantation
    30, Akademika Shalimova Str., Kyiv, Ukraine, 03126

Abstract

Aim. The aim of this study was to identify genetic causes of a hereditary cancer in Ukrainian pedigree. Conclusions. The efficacy of next-generation sequencing for the diagnosis of hereditary cancers was exemplified using a familial case with a dual genetic predisposition for cancer. It was determined that the P's son, who is 25 years of age, is a carrier of the MSH6 c.2150_2153del mutation. With the implementation of proper monitoring planning and a responsible attitude on the part of the patient, an early diagnosis strategy can be implemented, which will result in the potential cancer being diagnosed at an early stage.
Keywords: NGS, clinically significant gene variants, hereditary cancer, pedigree