Transmission of a TP53 germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partner

Li–Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by germline alterations in the tumor suppressor gene TP53. LFS is associated with numerous malignancies including astrocytoma. Sanger sequencing and chromosomal microarray studies of blood and tumor tissue from...

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Detalles Bibliográficos
Autores principales: Cotter, Jennifer A., Szymanski, Linda, Karimov, Catherine, Boghossian, Lara, Margol, Ashley, Dhall, Girish, Tamrazi, Benita, Varaprasathan, G. Isaac, Parham, David M., Judkins, Alexander R., Biegel, Jaclyn A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880265/
https://www.ncbi.nlm.nih.gov/pubmed/29581140
http://dx.doi.org/10.1101/mcs.a002576

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