rhabdoid tumor predisposition syndrome 1

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rhabdoid tumor predisposition syndrome 12016-11-27T23:02:52+00:00

rhabdoid tumor predisposition syndrome 1 


Definition An inherited predisposition (OMIM:609322) to develop rhabdoid tumours, a highly malignant group of neoplasms that usually occur in early childhood.

Diagnosis FISH-interphase, detection of SMARCB1 

Molecular pathology Defects in SMARCB1, which encodes a core component of the ATP-dependent chromatin-remodeling BAF (hSWI/SNF) complex that plays key roles in cell proliferation and differentiation, cause rhabdoid tumour predisposition syndrome 1. 

Synonyms AT/RT, brain tumour—posterior fossa—of infancy—familial, malignant rhabdoid tumour, malignant rhabdoid tumour—somatic, MRT, rhabdoid predisposition syndrome, RTPS1, teratoid tumour—atypical 

References http://www.uniprot.org/uniprot/Q12824



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