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Erschienen in:
09.11.2016 | Short Communication
DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations
Erschienen in: Familial Cancer | Ausgabe 2/2017
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The familial tumor predisposition syndrome known as DICER1-pleuropulmonary blastoma (PPB) or DICER1 tumor predisposition syndrome was first described in 2009, and it involves an increased risk in the occurrence of various tumors, like cystic nephroma and PPB. Here is presented a girl with a cystic nephroma and two cystic lung lesions who was diagnosed years later with the DICER1 gene mutation. This mutation was also found in one of her parents. Thus, the screening for the DICER1 gene mutation may be important in children with certain/multiple tumors and their families.