Article

Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161

2022-11-25

Abstract excerpt

Recent genetic sequencing studies in large series’ of predominantly childhood medulloblastoma have implicated loss-of-function (LoF), predominantly truncating, variants in the ELP1 and GPR161 genes in causation of the MBSHH subtype specifically. The latter association, along with a report of an index case with some features of Gorlin syndrome (GS) has led to speculation that GPR161 may also cause GS. We show that...

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Literature Corpus work: 08d247e0-b4ca-5b4b-bcc1-13f27443b514
DOI: 10.21203/rs.3.rs-2300635/v1

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