Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

In a subset of pediatric cancers, a germline cancer predisposition is highly suspected based on clinical and pathological findings, but genetic evidence is lacking, which hampers genetic counseling and predictive testing in the families involved. We describe a family with two siblings born from heal...

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Detalles Bibliográficos
Autores principales: Sabatella, Mariangela, Mantere, Tuomo, Waanders, Esmé, Neveling, Kornelia, Mensenkamp, Arjen R, van Dijk, Freerk, Hehir‐Kwa, Jayne Y, Derks, Ronnie, Kwint, Michael, O'Gorman, Luke, Tropa Martins, Madalena, Gidding, Corrie EM, Lequin, Maarten H, Küsters, Benno, Wesseling, Pieter, Nelen, Marcel, Biegel, Jacklyn A, Hoischen, Alexander, Jongmans, Marjolijn C, Kuiper, Roland P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2021
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519051/
https://www.ncbi.nlm.nih.gov/pubmed/34231212
http://dx.doi.org/10.1002/path.5755

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