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Article

Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review.

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

Lee Stephanie G, Evans Gareth, Stephen Maddie, Goren Rachel, Bondy Melissa, Goodman Steven

Abstract excerpt

In 2002, heterozygous suppressor of fused variants (SUFU+/-) in the germline were described to have a tumor suppressor role in the development of pediatric medulloblastoma (MB). Other neoplasms associated with pathologic germline SUFU+/- variants have also been described among patients with basal cell nevus syndrome (BCNS; BCNS is also known as Gorlin syndrome, nevoid basal cell carcinoma [BCC] syndrome or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38282294
DOI: 10.1002/ajmg.a.63496

Genes

SUFU
MB

Provenance

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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