Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma

Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma

Abstract Background Lynch syndrome (LS) is not considered part of childhood cancer predisposition syndromes. Case presentation Analysis of a pediatric osteosarcoma (OS) displayed hypermutation (16.8), alternative lengthening of telomeres (ALT), loss of PMS2 expression in tumor tissue (retained in no...

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Bibliographic Details
Main Authors: Michaela Kuhlen, Mariola Monika Golas, Tina Schaller, Nicole Stadler, Felicitas Maier, Olaf Witt, Michael C. Frühwald
Format: Article
Language:English
Published: BMC 2023-06-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
Hereditary cancer predisposition
PMS2
Children
Osteosarcoma
Ependymoma
Lynch syndrome
Online Access:https://doi.org/10.1186/s13053-023-00254-4

Internet

https://doi.org/10.1186/s13053-023-00254-4

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