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 ChanPublished 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.