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Related Experiment Video

Updated: Sep 7, 2025

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.

Esra Arslan Ates1,2, Ayberk Turkyilmaz3, Ceren Alavanda4

  • 1Marmara University Pendik Training and Research Hospital, Genetic Diseases Diagnostics Center, Istanbul, Turkey.

Medeniyet Medical Journal
|June 23, 2022
PubMed
Summary
This summary is machine-generated.

Multigene panel testing identified pathogenic germline variations in 16.5% of hereditary cancer syndrome patients. ATM, CHEK2, and MUTYH were the most frequently altered genes, highlighting the value of comprehensive genetic screening.

Keywords:
Cancer predispositiongenetic counselinghereditary cancernext generation sequencing

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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Hereditary cancer syndromes (HCSs) arise from germline pathogenic variations in genes regulating cell growth.
  • These syndromes represent a heterogeneous group of inherited cancer predispositions.

Purpose of the Study:

  • To characterize germline variations in patients with suspected hereditary cancer using multigene panels.
  • To expand the understanding of genotype-phenotype correlations in HCSs.

Main Methods:

  • Sequencing of 25 HCS-related genes using a multigene panel in 218 patients.
  • Classification of genetic variations according to American College of Medical Genetics and Genomics (ACMG) criteria.

Main Results:

  • Pathogenic variations were detected in 36 of 218 (16.5%) patients across 12 genes.
  • ATM gene mutations were most frequent (3.6%), followed by CHEK2 (3.2%) and MUTYH (3.2%).
  • Three novel pathogenic variations were identified, expanding the known mutation spectrum.

Conclusions:

  • Multigene panel testing is a valuable tool for identifying hereditary cancer.
  • Findings support genotype-phenotype correlation and aid in genetic counseling and family-specific screening strategies.
  • The presence of multiple gene defects in some patients underscores the complexity of HCSs.