En familie med nedarvet DICER1-mutation
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En familie med nedarvet DICER1-mutation. / Altaraihi, Mays; Pedersen, Jens; Rossing, Maria; Gerdes, Anne-Marie; Wadt, Karin.
I: Ugeskrift for Laeger, Bind 180, Nr. 25, V01180063, 2018.Publikation: Bidrag til tidsskrift › Letter › Forskning › fagfællebedømt
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TY - JOUR
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.
M3 - Letter
C2 - 29938629
VL - 180
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
IS - 25
M1 - V01180063
ER -
ID: 218615576