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Anil K Giri1, Mervi Aavikko2, Linnea Wartiovaara3

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This study identified novel genetic risk factors for small intestinal neuroendocrine tumors (SI-NETs). A key finding is a new LGR5 gene mutation linked to SI-NET development, offering potential diagnostic markers.

Keywords:
CDKAL1FERMT2FinnGenSEMA6ASI-NET

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Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Small intestinal neuroendocrine tumors (SI-NETs) are rare but increasing in incidence.
  • Understanding genetic risk factors is crucial for SI-NET prevention and diagnosis.

Purpose of the Study:

  • To conduct the largest genome-wide association study (GWAS) for SI-NETs to date.
  • To identify novel genetic variants associated with SI-NET risk.

Main Methods:

  • Meta-analysis of GWAS data from 405 SI-NET cases and 614,666 controls (FinnGen and UK Biobank).
  • Validation of genetic associations in an independent Finnish cohort and UK Biobank exome data.

Main Results:

  • Identified 6 genome-wide significant loci associated with SI-NET risk, including 4 novel loci.
  • Discovered a novel missense variant (rs200138614, p.Cys712Phe) in the LGR5 gene, a marker of intestinal stem cells.
  • Demonstrated that the LGR5 mutation impairs R-Spondin-LGR5 signaling in intestinal organoids.

Conclusions:

  • This GWAS is the largest for SI-NETs, reporting four new associated loci.
  • A novel LGR5 missense mutation is identified as a risk factor for SI-NETs.
  • The findings provide insights into SI-NET pathogenesis and potential diagnostic markers.