En familie med nedarvet DICER1-mutation

Mays Altaraihi; Jens Pedersen; Maria Rossing; Anne-Marie Gerdes; Karin Wadt

En familie med nedarvet DICER1-mutation

Translated title of the contribution: A family with a congenital DICER1 mutation

Mays Altaraihi, Jens Pedersen, Maria Rossing, Anne-Marie Gerdes, Karin Wadt

Department of Clinical Medicine

Abstract

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 contribution	A family with a congenital DICER1 mutation
Original language	Danish
Article number	V01180063
Journal	Ugeskrift for Laeger
Volume	180
Issue number	25
Number of pages	2
ISSN	0041-5782
Publication status	Published - 2018

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title = "En familie med nedarvet DICER1-mutation",

abstract = "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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T1 - En familie med nedarvet DICER1-mutation

AU - Altaraihi, Mays

AU - Pedersen, Jens

AU - Rossing, Maria

AU - Gerdes, Anne-Marie

AU - Wadt, Karin

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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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M1 - V01180063

ER -

En familie med nedarvet DICER1-mutation

Abstract

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