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

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

doi:10.1136/jmg.2010.083790

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

Ingrid Slade , Amos Burke + Show 30 more

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https://doi.org/10.1136/jmg.2010.083790

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#DICER1 Mutations #DICER1 Syndrome + Show 8 more

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Abstract

BackgroundConstitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB).AimTo investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer.Methods and resultsThe authors sequenced...

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