Evidence map›Paper›PMID 42248890›Full record

ArticleNPJ genomic medicine2026

Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis.

Laura Raiti, Kyoko E Yuki, Lise Cinq-Mars, Edward J Higginbotham, Vilma Navickiene, Yisu Li, Zhuozhi Wang, Bhooma Thiruv, Tristan Charlinski, Bailey Gallinger and 5 more

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In one paragraph

Article in NPJ genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

15 authors.

Laura RaitiDivision of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
Kyoko E Yuki *Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Lise Cinq-Mars *Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
Edward J HigginbothamDivision of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Vilma NavickieneDivision of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Yisu LiDivision of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Zhuozhi WangThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Bhooma ThiruvThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Tristan CharlinskiDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Bailey GallingerDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Rosemarie E VenierDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Annie HuangDivision of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
Avram DenburgDivision of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
Kathy ChunDivision of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Anita VillaniDivision of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada. anita.villani@sickkids.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rhabdoid tumour predisposition syndrome (RTPS) is a highly penetrant cancer predisposition syndrome caused by germline variants in SMARCB1 or less frequently in SMARCA4. Genetic testing for this syndrome involves sequence and deletion/duplication analysis of these two genes. Standard clinical testing is limited in detecting structural variants. Here we describe two patients who tested negative on standard clinical germline panel testing for RTPS but were each found to have a mosaic germline insertion of an SVA (SINE-VNTR-Alu) element in the SMARCB1 gene by more advanced comprehensive genomic analysis. These two cases demonstrate the importance of structural variants and broader genomic sequencing for individuals suspected of having an underlying germline cancer predisposition syndrome, such as RTPS.

Identifiers

PMID42248890
PMCPMC13562682

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.