Genetisk screening for mutation muliggør tidlig diagnostik af hypofyseadenomer

Jakob Dal; Mette Gaustadnes; Kurt Kristensen; Claus H Gravholt; Jens Otto L Jørgensen

Genetisk screening for mutation muliggør tidlig diagnostik af hypofyseadenomer

Jakob Dal, Mette Gaustadnes, Kurt Kristensen, Claus H Gravholt, Jens Otto L Jørgensen

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Abstract

Mutations in the aryl hydrocarbon receptor interaction protein gene (AIP) occur in familial pituitary adenomas as an autosomal dominant inheritance with a 15-30% penetrance. The AIP mutation-associated pituitary adenomas are generally large, the onset of disease is early and treatment failure frequent. Genetic screening is also offered in Denmark and enables the detection of mutation carriers, and thus early diagnosis and treatment. Mutations have been recorded among Danish patients and their families.

Bidragets oversatte titel	Genetic screening for mutations enables early diagnosis of pituitary adenomas
Originalsprog	Dansk
Tidsskrift	Ugeskrift for laeger
Vol/bind	176
Udgave nummer	1
Sider (fra-til)	54-7
Antal sider	4
ISSN	0041-5782
Status	Udgivet - 6 jan. 2014
Udgivet eksternt	Ja

Emneord

Acromegaly/genetics
Adenoma/genetics
Early Detection of Cancer
Genetic Testing
Growth Hormone-Secreting Pituitary Adenoma/genetics
Humans
Intracellular Signaling Peptides and Proteins/genetics
Mutation
Pedigree
Pituitary Neoplasms/genetics

Adgang til dokumentet

https://ugeskriftet.dk/videnskab/genetisk-screening-mutation-muliggoer-tidlig-diagnostik-af-hypofyseadenomer-4

AUB Link

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Citationsformater

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title = "Genetisk screening for mutation muligg{\o}r tidlig diagnostik af hypofyseadenomer",

abstract = "Mutations in the aryl hydrocarbon receptor interaction protein gene (AIP) occur in familial pituitary adenomas as an autosomal dominant inheritance with a 15-30% penetrance. The AIP mutation-associated pituitary adenomas are generally large, the onset of disease is early and treatment failure frequent. Genetic screening is also offered in Denmark and enables the detection of mutation carriers, and thus early diagnosis and treatment. Mutations have been recorded among Danish patients and their families.",

keywords = "Acromegaly/genetics, Adenoma/genetics, Early Detection of Cancer, Genetic Testing, Growth Hormone-Secreting Pituitary Adenoma/genetics, Humans, Intracellular Signaling Peptides and Proteins/genetics, Mutation, Pedigree, Pituitary Neoplasms/genetics",

author = "Jakob Dal and Mette Gaustadnes and Kurt Kristensen and Gravholt, {Claus H} and J{\o}rgensen, {Jens Otto L}",

year = "2014",

month = jan,

day = "6",

language = "Dansk",

volume = "176",

pages = "54--7",

journal = "Ugeskrift for laeger",

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TY - JOUR

T1 - Genetisk screening for mutation muliggør tidlig diagnostik af hypofyseadenomer

AU - Dal, Jakob

AU - Gaustadnes, Mette

AU - Kristensen, Kurt

AU - Gravholt, Claus H

AU - Jørgensen, Jens Otto L

PY - 2014/1/6

Y1 - 2014/1/6

N2 - Mutations in the aryl hydrocarbon receptor interaction protein gene (AIP) occur in familial pituitary adenomas as an autosomal dominant inheritance with a 15-30% penetrance. The AIP mutation-associated pituitary adenomas are generally large, the onset of disease is early and treatment failure frequent. Genetic screening is also offered in Denmark and enables the detection of mutation carriers, and thus early diagnosis and treatment. Mutations have been recorded among Danish patients and their families.

AB - Mutations in the aryl hydrocarbon receptor interaction protein gene (AIP) occur in familial pituitary adenomas as an autosomal dominant inheritance with a 15-30% penetrance. The AIP mutation-associated pituitary adenomas are generally large, the onset of disease is early and treatment failure frequent. Genetic screening is also offered in Denmark and enables the detection of mutation carriers, and thus early diagnosis and treatment. Mutations have been recorded among Danish patients and their families.

KW - Acromegaly/genetics

KW - Adenoma/genetics

KW - Early Detection of Cancer

KW - Genetic Testing

KW - Growth Hormone-Secreting Pituitary Adenoma/genetics

KW - Humans

KW - Intracellular Signaling Peptides and Proteins/genetics

KW - Mutation

KW - Pedigree

KW - Pituitary Neoplasms/genetics

M3 - Tidsskriftartikel

C2 - 24629609

SN - 0041-5782

VL - 176

SP - 54

EP - 57

JO - Ugeskrift for laeger

JF - Ugeskrift for laeger

IS - 1

ER -

Genetisk screening for mutation muliggør tidlig diagnostik af hypofyseadenomer

Abstract

Emneord

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