Context Nontoxic multinodular goiter (MNG) is frequently observed in the general
population, but little is known about the underlying genetic susceptibility to this disease …

Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer
syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and …

DICER1 is crucial for embryogenesis and early development. Forty different heterozygous
germline DICER1 mutations have been reported worldwide in 42 probands that developed …

Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing
genetic factors are not well established. We recently identified a germ-line DICER1 mutation …

Background Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a
family of kidney neoplasms including cystic partially differentiated nephroblastoma and …

OBJECTIVE: To characterize the association of pleuropulmonary blastoma (PPB) with cystic
nephroma (CN) and other renal tumors. STUDY DESIGN: Complete clinicopathologic review …

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 …

Background Somatic mosaicism is being increasingly recognised as an important cause of
non-Mendelian presentations of hereditary syndromes. A previous whole-exome …

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 …

Germ‐line interstitial deletions involving the 14q32 chromosomal region, resulting in 14q32
deletion syndrome, are rare. DICER1 is a recently described cancer‐predisposition gene …