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Characteristics of the Danish families with multiple endocrine neoplasia type 1

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Jäger, Anne Charlotte ; Friis-Hansen, Lennart ; Hansen, Thomas V O ; Eskildsen, Peter C ; Sølling, Karsten ; Knigge, Ulrich ; Hansen, Carsten P ; Andersen, Per Hjulskov ; Brixen, Kim ; Feldt-Rasmussen, Ulla ; Kroustrup, Jens Peter ; Mollerup, Charlotte L ; Rehfeld, Jens F ; Blichert-Toft, Mogens ; Nielsen, Finn C. / Characteristics of the Danish families with multiple endocrine neoplasia type 1. In: Molecular and Cellular Endocrinology. 2006 ; Vol. 249, No. 1-2. pp. 123-32.

Bibtex

@article{c046391fbbe84ab5af6f6710fc9d02f3,
title = "Characteristics of the Danish families with multiple endocrine neoplasia type 1",
abstract = "Multiple endocrine neoplasia type 1 (MEN1) is caused by autosomal dominantly inherited mutations in the MEN1 gene. Here, we report 25 MEN1 mutations - of which 12 are novel - found in 36 Danish families with MEN1 or variant MEN1 disease. Furthermore, one FIHP family was found to have an earlier reported mutation. The mutations were predominantly found in exons 9 and 10 encoding the C-terminal part of menin. Seven of the mutations were missense mutations, changing conserved residues. Furthermore screening of 93 out of 153 consecutive patients with primary hyperparathyroidism (pHPT) identified five mutation carriers. Two of these belonged to known MEN1 families, whereas the only MEN1-related disease in the other three was pHPT. Screening of 96 consecutive patients with fore-/midgut endocrine tumours revealed five mutation carries out of 28 patients with sporadic gastrinomas, whereas no mutations were found in 68 patients with other fore-/midgut endocrine tumours. Moreover, screening of 60 consecutive patients with primary prolactinoma did not identify any mutation carriers. Our data indicate that MEN1 mutation screening is efficient in patients with familial MEN1. Screening should also be offered to patients with pHPT or gastrinomas after thorough investigation into the family history. In contrast, sporadic carcinoid tumours or primary prolactinomas are rarely associated with germ-line MEN1 mutations.",
keywords = "Amino Acid Sequence, Denmark, Female, Genetic Testing, Haplotypes, Humans, Hyperparathyroidism, Primary, Male, Molecular Sequence Data, Multiple Endocrine Neoplasia Type 1, Mutation, Polymorphism, Genetic, Proto-Oncogene Proteins, Sequence Alignment",
author = "J{\"a}ger, {Anne Charlotte} and Lennart Friis-Hansen and Hansen, {Thomas V O} and Eskildsen, {Peter C} and Karsten S{\o}lling and Ulrich Knigge and Hansen, {Carsten P} and Andersen, {Per Hjulskov} and Kim Brixen and Ulla Feldt-Rasmussen and Kroustrup, {Jens Peter} and Mollerup, {Charlotte L} and Rehfeld, {Jens F} and Mogens Blichert-Toft and Nielsen, {Finn C}",
year = "2006",
month = "4",
day = "25",
doi = "10.1016/j.mce.2006.02.008",
language = "English",
volume = "249",
pages = "123--32",
journal = "Molecular and Cellular Endocrinology",
issn = "0303-7207",
publisher = "Elsevier Ireland Ltd",
number = "1-2",

}

RIS

TY - JOUR

T1 - Characteristics of the Danish families with multiple endocrine neoplasia type 1

AU - Jäger, Anne Charlotte

AU - Friis-Hansen, Lennart

AU - Hansen, Thomas V O

AU - Eskildsen, Peter C

AU - Sølling, Karsten

AU - Knigge, Ulrich

AU - Hansen, Carsten P

AU - Andersen, Per Hjulskov

AU - Brixen, Kim

AU - Feldt-Rasmussen, Ulla

AU - Kroustrup, Jens Peter

AU - Mollerup, Charlotte L

AU - Rehfeld, Jens F

AU - Blichert-Toft, Mogens

AU - Nielsen, Finn C

PY - 2006/4/25

Y1 - 2006/4/25

N2 - Multiple endocrine neoplasia type 1 (MEN1) is caused by autosomal dominantly inherited mutations in the MEN1 gene. Here, we report 25 MEN1 mutations - of which 12 are novel - found in 36 Danish families with MEN1 or variant MEN1 disease. Furthermore, one FIHP family was found to have an earlier reported mutation. The mutations were predominantly found in exons 9 and 10 encoding the C-terminal part of menin. Seven of the mutations were missense mutations, changing conserved residues. Furthermore screening of 93 out of 153 consecutive patients with primary hyperparathyroidism (pHPT) identified five mutation carriers. Two of these belonged to known MEN1 families, whereas the only MEN1-related disease in the other three was pHPT. Screening of 96 consecutive patients with fore-/midgut endocrine tumours revealed five mutation carries out of 28 patients with sporadic gastrinomas, whereas no mutations were found in 68 patients with other fore-/midgut endocrine tumours. Moreover, screening of 60 consecutive patients with primary prolactinoma did not identify any mutation carriers. Our data indicate that MEN1 mutation screening is efficient in patients with familial MEN1. Screening should also be offered to patients with pHPT or gastrinomas after thorough investigation into the family history. In contrast, sporadic carcinoid tumours or primary prolactinomas are rarely associated with germ-line MEN1 mutations.

AB - Multiple endocrine neoplasia type 1 (MEN1) is caused by autosomal dominantly inherited mutations in the MEN1 gene. Here, we report 25 MEN1 mutations - of which 12 are novel - found in 36 Danish families with MEN1 or variant MEN1 disease. Furthermore, one FIHP family was found to have an earlier reported mutation. The mutations were predominantly found in exons 9 and 10 encoding the C-terminal part of menin. Seven of the mutations were missense mutations, changing conserved residues. Furthermore screening of 93 out of 153 consecutive patients with primary hyperparathyroidism (pHPT) identified five mutation carriers. Two of these belonged to known MEN1 families, whereas the only MEN1-related disease in the other three was pHPT. Screening of 96 consecutive patients with fore-/midgut endocrine tumours revealed five mutation carries out of 28 patients with sporadic gastrinomas, whereas no mutations were found in 68 patients with other fore-/midgut endocrine tumours. Moreover, screening of 60 consecutive patients with primary prolactinoma did not identify any mutation carriers. Our data indicate that MEN1 mutation screening is efficient in patients with familial MEN1. Screening should also be offered to patients with pHPT or gastrinomas after thorough investigation into the family history. In contrast, sporadic carcinoid tumours or primary prolactinomas are rarely associated with germ-line MEN1 mutations.

KW - Amino Acid Sequence

KW - Denmark

KW - Female

KW - Genetic Testing

KW - Haplotypes

KW - Humans

KW - Hyperparathyroidism, Primary

KW - Male

KW - Molecular Sequence Data

KW - Multiple Endocrine Neoplasia Type 1

KW - Mutation

KW - Polymorphism, Genetic

KW - Proto-Oncogene Proteins

KW - Sequence Alignment

U2 - 10.1016/j.mce.2006.02.008

DO - 10.1016/j.mce.2006.02.008

M3 - Journal article

VL - 249

SP - 123

EP - 132

JO - Molecular and Cellular Endocrinology

JF - Molecular and Cellular Endocrinology

SN - 0303-7207

IS - 1-2

ER -

ID: 44963109