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Article

Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor.

JCO precision oncology - 1 Sept 2023

Fraire Claudette R, Mallinger Paige R, Hatton Jessica N, Kim Jung, Dickens David S, Argenta Peter A, Milanovich Samuel, Hartshorne Taylor, Carey David J, Haley Jeremy S, Urban Gretchen, Lee Jeon, Hill D Ashley, Stewart Douglas R, Schultz Kris Ann P, Chen Kenneth S

Abstract excerpt

Germline pathogenic loss-of-function (pLOF) variants in DICER1 are associated with a predisposition for a variety of solid neoplasms, including pleuropulmonary blastoma and Sertoli-Leydig cell tumor (SLCT). The most common DICER1 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...

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Identifiers

PMID: 37883719
DOI: 10.1200/PO.23.00189
PMCID: PMC10860953

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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