Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency

Ultra-hypermutation (>100 mutations/Mb) is rare in childhood cancer genomes and has been primarily reported in patients with constitutional mismatch repair deficiency (CMMRD) caused by biallelic germline mismatch repair (MMR) gene mutations. We report a 5-yr-old child with classic clinical featur...

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Vydáno v:Cold Spring Harb Mol Case Stud
Hlavní autoři: Lindsay, Holly, Scollon, Sarah, Reuther, Jacquelyn, Voicu, Horatiu, Rednam, Surya P., Lin, Frank Y., Fisher, Kevin E., Chintagumpala, Murali, Adesina, Adekunle M., Parsons, D. Will, Plon, Sharon E., Roy, Angshumoy
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory Press 2019
Témata:
Research Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6824253/
https://ncbi.nlm.nih.gov/pubmed/31624068
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004499
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