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Article

The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study.

American journal of medical genetics. Part A - 1 Feb 2021

Shoakazemi Alireza, Hewitt Alan, Smith Miriam J, du Plessis Daniel, Thomas Owen, Stivaros Stavros M, Deniz Kenan, Hammerbeck-Ward Charlotte, Rutherford Scott A, King Andrew Thomas, Evans D Gareth

Abstract excerpt

Clear cell meningioma (CCM) is a rare variant of meningioma. In recent years, an association between cranial and spinal CCMs and germline loss of function mutations in the SMARCE1 gene (SWI/SNF chromatin remodeling complex subunit gene) has been discovered. We report a family with an incidental large spinal clear cell meningioma in a young adult following reflex screening for a germline loss of function...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 33185983
DOI: 10.1002/ajmg.a.61970

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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