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Germline pathogenic SMARCA4 variants in neuroblastoma

22 Feb 2023

Abstract excerpt

Heterozygous germline pathogenic variants (GPVs) in SMARCA4 , the gene encoding the ATP-dependent chromatin remodelling protein SMARCA4 (previously known as BRG1), predispose to several rare tumour types, including small cell carcinoma of the ovary, hypercalcaemic type, atypical teratoid and malignant rhabdoid tumour, and uterine sarcoma. The increase in germline testing of SMARCA4 in recent years has revealed...

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PMID: 36813544
DOI: 10.1136/jmg-2022-108854

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