Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib

Abstract Familial gastrointestinal stromal tumors (GIST) are rare. We present a kindred with multiple family members affected with multifocal GIST who underwent whole genome sequencing of the germline and tumor. Affected individuals with GIST harbored a germline variant found within exon 13 of the K...

Full description

Bibliographic Details
Main Authors: K. M. Ingley, M. Zatzman, A. M. Fontebasso, W. Lo, V. Subasri, A. Goldenberg, Y. Li, S. Davidson, N. Kanwar, L. Waldman, L. Brunga, Y. Babichev, E. G. Demicco, A. Gupta, M. Szybowska, S. Thipphavong, D. Malkin, A. Villani, A. Shlien, R. A. Gladdy, R. H. Kim
Format: Article
Language:English
Published: Nature Portfolio 2024-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-024-00405-z