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Clinical Implications of Pathogenic Germline Variants in Small Intestine Neuroendocrine Tumors (SI-NETs).

Kimberley J PerezMatthew H KulkeAnu ChittendenChinedu UkaegbuKristina AstoneHolly AlexanderLauren BraisJinming ZhangJohn GarciaEdward D EsplinShan YangAnnacarolina Da SilvaJonathan Andrew NowakMatthew B YurgelunJudy E GarberSapna SyngalJennifer Chan
Published in: JCO precision oncology (2022)
We demonstrate a 9%-11% incidence of pathogenic germline variants in genes associated with inherited susceptibility for malignancy not previously described in association with SI-NET. The association of these germline variants with neuroendocrine carcinogenesis and risk is uncertain but warrants further characterization.
Keyphrases
  • copy number
  • neuroendocrine tumors
  • dna repair
  • room temperature
  • risk factors
  • dna damage
  • genome wide
  • ionic liquid