Identification of oncogenic mutations in a pedigree affected by inherited cancers: A case report

Authors

  • A. M. Bezverkhiy Institute of Molecular Biology and Genetics, NAS of Ukraine 150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03143 Author
  • V. O. Kropelnytskyi O.O. Shalimov National Scientific Center of Surgery and Transplantation 30, Akademika Shalimova Str., Kyiv, Ukraine, 03126 Author
  • R. V. Gulkovskyi Institute of Molecular Biology and Genetics, NAS of Ukraine 150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03143 Author

DOI:

https://doi.org/10.7124/bc.000AE5

Keywords:

NGS, clinically significant gene variants, hereditary cancer, pedigree

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.
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Published

2024-09-10

Issue

Vol. 40 No. 3 (2024)

Section

Chronicle and Information