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
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 KIT gene (c.1965T>G; p.Asn655Lys, p.N655K) and a variant in the MSR1 gene (c.877 C > T; p.Arg293*, pR293X). Multifocal GISTs in the proband and her mother were treated with preoperative imatinib, which resulted in severe intolerance...
March 27, 2024: NPJ Genomic Medicine