Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6

Julia Taeubner , Katharina Wimmer (1) , Martine Muleris (2) , Olivier Lascols (3) , Chrystelle Colas (2) , Christine Fauth (4) , Triantafyllia Brozou , Joerg Felsberg , Jasmin Riemer , Michael Gombert , Sebastian Ginzel , Jessica I Hoell , Arndt Borkhardt , Michaela Kuhlen (5)

1 Medizinische Universität Wien = Medical University of Vienna
2 UMRS893 - Centre de Recherche Saint-Antoine
3 UNICANCER/CRLCC-CGFL - Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon]
4 Division of Clinical Genetics, Department of Medical Genetics, Molecular and and Clinical Pharmacology
5 Clinic of Pediatric Oncology, Hematology and Clinical Immunology

Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessively inherited childhood cancer susceptibility syndrome caused by biallelic germline mutations in one of the mismatch repair (MMR)

Domaines: Sciences du Vivant [q-bio]

Julia Taeubner, Katharina Wimmer, Martine Muleris, Olivier Lascols, Chrystelle Colas, et al.. Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6. European Journal of Human Genetics, 2018, 26 (3), pp.440-444. ⟨10.1038/s41431-017-0071-5⟩. ⟨hal-02340250⟩