Leanne de Kock

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DICER1 is a critical gene in the biogenesis of mature microRNAs, short non-coding RNAs that derive from either -3p or -5p precursor microRNA strands. Germline mutations of DICER1 are associated with a range of human malignancies, including pleuropulmonary blastoma (PPB). Additional somatic 'hotspot' mutations in the microRNA processing ribonuclease IIIb(More)
OBJECTIVE To identify reliable predictors of outcome in comatose patients after cardiac arrest using a single routine EEG and standardized interpretation according to the terminology proposed by the American Clinical Neurophysiology Society. METHODS In this cohort study, 4 EEG specialists, blinded to outcome, evaluated prospectively recorded EEGs in the(More)
CONTEXT Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome. Thyroid abnormalities are a common finding in DICER1 syndrome with multinodular goiter frequently present in many families in which a germline DICER1 mutation is segregating. Differentiated thyroid carcinoma (DTC) is infrequently seen in such(More)
Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These "hotspot" mutations affect the(More)
There is an urgent need for new serum markers that can be applied in e.g. the early detection of breast cancer. Following detection of new, potential biomarkers, such as those reported by Vlahou et al. (Clin Breast Cancer 2003;4:230-239) and Laronga et al. (Dis Markers 2003;19:229-238), assessment of both their robustness and validity is essential to(More)
Copyright © 2015 American Society for Colp cERMS is among the prototypical diseases of DICER1 syndrome but usually occurs in the first 2 decades of life. Somatic DICER1mutations, which frequently occur in the setting of an inactivating germ-line DICER1mutation, typically affect the region encoding the catalytically active RNase IIIb domain. We first report(More)