DICER1, dicer 1, ribonuclease III, 23405

N. diseases: 302; N. variants: 191
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE The majority of reported germline DICER1 mutations are truncating sequence-level alterations, suggesting that a loss-of-function type mechanism drives tumor formation in DICER1 syndrome. 29698806 2019
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE Recent reports suggest that anaplastic sarcoma of the kidney should be included in DICER1 syndrome as germline DICER1 mutations are associated with the occurrence of such tumors. 28862265 2018
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE In addition to having congenital dysmorphic features, the child developed multiple DICER1 syndrome-related tumors before age 5 y: a pediatric cystic nephroma (pCN), a ciliary body medulloepithelioma (CBME), and a small lung cyst (consistent with occult pleuropulmonary blastoma Type I/Ir cysts seen in DICER1 mutation carriers). 29315962 2018
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE We validated a germinal truncating mutation in DICER1, which was consistent with a DICER1 Syndrome diagnosis, providing the first example of an ovarian fibrosarcoma as the presenting neoplasia in this syndrome. 29459759 2018
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 Biomarker disease BEFREE DICER1 Syndrome: DICER1 Mutations in Rare Cancers. 29762508 2018
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 Biomarker disease BEFREE Dicer1 mouse and rare human DICER1 syndrome case reports describe structural kidney and collecting system anomalies. 30178239 2018
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE We previously identified a pathogenic germline DICER1 variant in a child with transposition of the great arteries who was a member of a family with DICER1 syndrome. 29399970 2018
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. 27896549 2017
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE The National Cancer Institute DICER1 syndrome cohort included 145 individuals with a DICER1 germline mutation and 135 family controls from 48 families. 28323992 2017
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE Identification of DICER1 mutation carriers and close surveillance of individuals at risk for DICER1 syndrome may allow early detection and hence better outcome. 28688118 2017
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE This study demonstrates that nodules within MNG occurring in DICER1 syndrome are associated with spatially distributed somatic DICER1 RNase IIIb mutations. 27459524 2016
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE This family provides novel insight into an emerging phenotype for DICER1 syndrome, with evidence that germline DICER1 mutations are associated with an increased risk of developing familial DTC, even in the absence of prior treatment with chemotherapy. 26555935 2016
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE Pleuropulmonary blastoma (PPB) is a rare childhood tumor, often associated with germline DICER1 mutations and a risk for development of other benign and malignant tumors, a constellation termed DICER1 syndrome. 27442759 2016
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE Future studies looking for DICER1 mutations in HL cases of the T cell phenotype will be important to confirm its association with constitutional DICER1 syndrome. 26526666 2016
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 Biomarker disease BEFREE The identification of two DICER1 "hits" in the WDFA strongly suggests that WDFA is a rare, previously-unrecognised manifestation of DICER1 syndrome. 26886166 2016
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome. 26983701 2016
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE Mosaic DICER1 mutations are an important cause of the DICER1 syndrome in patients with severe phenotypes and often appear to be accompanied by second somatic truncating mutations or LOH in the associated tumours. 26475046 2016
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE This report of somatic DICER1 mutations in DTC strengthens the association between DTC and the DICER1 syndrome. 24617712 2014
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 GeneticVariation disease BEFREE Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia syndrome [online Mendelian inheritance in man (OMIM) #601200]. 24839956 2014
CUI: C3839822
Disease: DICER1 syndrome
DICER1 syndrome
0.400 Biomarker disease GENOMICS_ENGLAND DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. 21205968 2011