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En familie med nedarvet DICER1-mutation

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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.

Translated title of the contributionA family with a congenital DICER1 mutation
Original languageDanish
JournalUgeskrift for Laeger
Volume180
Issue number24
Pages (from-to)V01180063
ISSN0041-5782
Publication statusPublished - 18 Jun 2018

ID: 56213134