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Article

Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor.

American journal of medical genetics. Part A - 1 Jun 2024

Meier-Abt Fabienne, Kraemer Dennis, Braun Nils, Reinehr Michael, Stutz-Grunder Eveline, Steindl Katharina, Rauch Anita

Abstract excerpt

Somatic variants in the NOTCH pathway regulator FBXW7 are frequently seen in a variety of malignancies. Heterozygous loss-of-function germline variants in FBXW7 have recently been described as causative for a neurodevelopmental syndrome. Independently, FBXW7 was also considered as a susceptibility gene for Wilms tumor due to a few observations of heterozygous germline variants in patients with Wilms tumor....

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Identifiers

PMID: 38169111
DOI: 10.1002/ajmg.a.63528

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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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