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2018 ; 10
(5
): ä Nephropedia Template TP
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DICER1 Syndrome: DICER1 Mutations in Rare Cancers
#MMPMID29762508
Robertson JC
; Jorcyk CL
; Oxford JT
Cancers (Basel)
2018[May]; 10
(5
): ä PMID29762508
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DICER1 syndrome is a rare genetic disorder that predisposes individuals to
multiple cancer types. Through mutations of the gene encoding the
endoribonuclease, Dicer, DICER1 syndrome disrupts the biogenesis and processing
of miRNAs with subsequent disruption in control of gene expression. Since the
first description of DICER1 syndrome, case reports have documented novel germline
mutations of the DICER1 gene in patients with cancers as well as second site
mutations that alter the function of the Dicer protein expressed. Here, we
present a review of mutations in the DICER1 gene, the respective protein sequence
changes, and clinical manifestations of DICER1 syndrome. Directions for future
research are discussed.