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Genome-wide Purification of Extrachromosomal Circular DNA from Eukaryotic Cells
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New EPCAM founder deletion in Polish population.

D Dymerska1, K Gołębiewska1, M Kuświk1

  • 1Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.

Clinical Genetics
|April 4, 2017
PubMed
Summary

A founder mutation in the EPCAM gene is a common cause of Lynch syndrome (LS) in Polish families, primarily linked to colorectal cancer. This discovery aids in molecular diagnostics for hereditary cancer risk.

Keywords:
EPCAMLynch syndromecolorectal cancerfounder mutation

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Area of Science:

  • Genetics
  • Oncology
  • Molecular Diagnostics

Background:

  • Founder mutations play a crucial role in hereditary cancer syndromes, impacting molecular diagnostics.
  • Lynch syndrome (LS) is an inherited disorder increasing cancer risk, particularly colorectal cancer.
  • The EPCAM gene is implicated in the etiology of LS.

Purpose of the Study:

  • To report the identification and characterization of a founder mutation in the EPCAM gene.
  • To investigate the prevalence and clinical significance of this EPCAM founder mutation in Polish families with Lynch syndrome.
  • To assess the spectrum of cancers associated with this specific EPCAM mutation.

Main Methods:

  • Genetic analysis of 8 Polish families.
  • Mutation screening in the EPCAM gene, specifically the c.858+2478_*4507del deletion.
  • Review of family cancer histories.

Main Results:

  • A large deletion mutation (c.858+2478_*4507del) in the EPCAM gene was identified as a founder mutation.
  • This mutation was present in 8 Polish families and is a common cause of LS in Poland.
  • Colorectal cancer was the predominant malignancy, with occasional cases of pancreatic and gastric cancers observed.

Conclusions:

  • The EPCAM founder mutation is a significant genetic factor contributing to Lynch syndrome in the Polish population.
  • This finding highlights the importance of EPCAM mutation screening for LS diagnosis in this demographic.
  • Understanding founder mutations like this one improves genetic counseling and cancer risk assessment.