<i>DICER1</i> syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

Slade, I.; Bacchelli, Chiara; Davies, Helen; R. Murray, Anne; Abbaszadeh, Fatemeh; Hanks, Sandra; Barfoot, Rita; Burke, Amos; Chisholm, Julia; Hewitt, Martin; Jenkinson, Helen; King, D.; Morland, Bruce; Pizer, Barry; Prescott, Katrina; Saggar, Anand; Side, Lucy; Traunecker, Heidi; Vaidya, Sucheta; Ward, Paul; Futreal, PA; Vujanić, Gordan; G. Nicholson, Andrew; J. Sebire, Neil; Turnbull, Clare; R. Priest, John; Pritchard‐Jones, Kathy; S. Houlston, Richard; Stiller, Charles; R. Stratton, Michael; Douglas, Jenny; Rahman, Nazneen

doi:10.1136/jmg.2010.083790

Public

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

Published in Journal of Medical Genetics • Jan 25, 2011

Authors:

I. Slade

Chiara Bacchelli

Helen Davies

Abstract

BACKGROUND: Constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB). AIM: To investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer. METHODS AND RESULTS: The authors sequenced DICER1 in constitutio...

Subject

Germline mutation

Biology

Mutation

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