Condition: Pleuropulmonary blastoma
rs1060503605 in
DICER1 gene and
Pleuropulmonary blastoma
PMID 24675358 2014 Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma.
PMID 26545620 2016 Functional characterization of multiple DICER1 mutations in an adolescent.
PMID 19556464 2009 DICER1 mutations in familial pleuropulmonary blastoma.
PMID 21266384 2011 DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
PMID 26925222 2015 Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model.
PMID 24909177 2014 Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.
PMID 21882293 2011 Extending the phenotypes associated with DICER1 mutations.
PMID 28323992 2017 Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.
PMID 25022261 2014 Germ-line and somatic DICER1 mutations in pineoblastoma.
PMID 24839956 2014 Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
PMID 25356068 2014 DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions.
PMID 23728841 2013 Novel DICER1 mutation as cause of multinodular goiter in children.
PMID 27459524 2016 Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter.
PMID 25451712 2015 DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor, well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter.
PMID 21501861 2011 Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry.
PMID 21036787 2010 Germline DICER1 mutations and familial cystic nephroma.
PMID 22180160 2012 DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome.