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En familie med nedarvet DICER1-mutation


Mays Altaraihi1, Jens Pedersen2, Maria Rossing3, Anne-Marie Gerdes1 & Karin Wadt1

1) Klinisk Genetisk Klinik, Rigshospitalet 2) Endokrinologisk Afdeling, Hvidovre Hospital 3) Genomisk Medicin, Rigshospitalet Ugeskr Læger 2018;180:V01180063

Ugeskr Læger 2018;180:V01180063
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A family with a congenital DICER1 mutation

Germ line DICER1 mutations predispose to a syndrome associated with increased risk of e.g. multinodular goitre (MNG), pleuropulmonary blastoma and Sertoli-Leydig cell tumour (SLCT). This is a case report about a family with a nonsense DICER1 mutation, c.988C>T, affecting six family members. The proband had once undergone a unilateral oophorectomy and a thyroidectomy due to SLCT and MNG, respectively. The proband has two children with the mutation but with no manifestations. Given this circumstance, we discuss the prospects of an implementation of screening programmes for children with predisposed cancerous syndromes.

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