rhabdoid tumour predisposition syndrome 2

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rhabdoid tumour predisposition syndrome 22016-11-27T23:10:48+00:00

rhabdoid tumour predisposition syndrome 2

ONCOLOGY

Definition A familial cancer syndrome (OMIM:613325) characterised by an increased risk of renal or extrarenal malignant rhabdoid tumours* and various CNS tumours–e.g., choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumours.

Comment *Rhabdoid tumours are the most aggressive and lethal malignancies of early childhood.

Molecular pathology Defects of SMARCA4, which has helicase and ATPase activities and regulates gene transcription, cause rhabdoid tumour predisposition syndrome type 2.

References http://www.uniprot.org/uniprot/P51532

http://www.omim.org/entry/613325

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