Ontology highlight
ABSTRACT:
SUBMITTER: Fraire CR
PROVIDER: S-EPMC10860953 | biostudies-literature | 2023 Sep
REPOSITORIES: biostudies-literature
Fraire Claudette R CR Mallinger Paige R PR Hatton Jessica N JN Kim Jung J Dickens David S DS Argenta Peter A PA Milanovich Samuel S Hartshorne Taylor T Carey David J DJ Haley Jeremy S JS Urban Gretchen G Lee Jeon J Hill D Ashley DA Stewart Douglas R DR Schultz Kris Ann P KAP Chen Kenneth S KS
JCO precision oncology 20230901
Germline pathogenic loss-of-function (pLOF) variants in <i>DICER1</i> are associated with a predisposition for a variety of solid neoplasms, including pleuropulmonary blastoma and Sertoli-Leydig cell tumor (SLCT). The most common <i>DICER1</i> pLOF variants include small insertions or deletions leading to frameshifts, and base substitutions leading to nonsense codons or altered splice sites. Larger deletions and pathogenic missense variants occur less frequently. Identifying these variants can t ...[more]