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Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors

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Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors. / Kluwe, Lan; Friedrich, Reinhard E; Peiper, Matthias; Friedman, Jan; Mautner, Victor-F.

in: HUM MUTAT, Jahrgang 22, Nr. 5, 01.11.2003, S. 420.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Kluwe, L, Friedrich, RE, Peiper, M, Friedman, J & Mautner, V-F 2003, 'Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors', HUM MUTAT, Jg. 22, Nr. 5, S. 420. https://doi.org/10.1002/humu.9193

APA

Kluwe, L., Friedrich, R. E., Peiper, M., Friedman, J., & Mautner, V-F. (2003). Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors. HUM MUTAT, 22(5), 420. https://doi.org/10.1002/humu.9193

Vancouver

Kluwe L, Friedrich RE, Peiper M, Friedman J, Mautner V-F. Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors. HUM MUTAT. 2003 Nov 1;22(5):420. https://doi.org/10.1002/humu.9193

Bibtex

@article{2813b9c2032e4819a7ad05f625300281,
title = "Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors",
abstract = "Neurofibromatosis type 1 (NF1) patients have 10% of lifetime risk for developing malignant peripheral nerve sheath tumors (MPNST), one of the most aggressive cancers. We examined the spectrum of constitutional NF1 mutations among 24 NF1 patients with MPNST. We found mutations in 18 patients: four megabase deletions involving the NF1 gene, 13 truncating mutations, and only one missense mutation. One deletion included both exonic and intronic sequences. No typical splicing mutation was found. Five of these mutations were novel: c.3686delA, c.197_204+9del17, c.3044T>C (p.Leu1015Pro), c.2497delT, and c.6020_6027dup. The proportion of megabase deletions of the NF1 gene found in patients with MPNST (17%=4/24) was higher than that in a group of unselected NF1 patients (5.4%=27/500).",
keywords = "Adolescent, Adult, Genes, Neurofibromatosis 1, Humans, Middle Aged, Mutation, Nerve Sheath Neoplasms, Neurofibromatosis 1",
author = "Lan Kluwe and Friedrich, {Reinhard E} and Matthias Peiper and Jan Friedman and Victor-F Mautner",
note = "Copyright 2003 Wiley-Liss, Inc.",
year = "2003",
month = nov,
day = "1",
doi = "10.1002/humu.9193",
language = "English",
volume = "22",
pages = "420",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors

AU - Kluwe, Lan

AU - Friedrich, Reinhard E

AU - Peiper, Matthias

AU - Friedman, Jan

AU - Mautner, Victor-F

N1 - Copyright 2003 Wiley-Liss, Inc.

PY - 2003/11/1

Y1 - 2003/11/1

N2 - Neurofibromatosis type 1 (NF1) patients have 10% of lifetime risk for developing malignant peripheral nerve sheath tumors (MPNST), one of the most aggressive cancers. We examined the spectrum of constitutional NF1 mutations among 24 NF1 patients with MPNST. We found mutations in 18 patients: four megabase deletions involving the NF1 gene, 13 truncating mutations, and only one missense mutation. One deletion included both exonic and intronic sequences. No typical splicing mutation was found. Five of these mutations were novel: c.3686delA, c.197_204+9del17, c.3044T>C (p.Leu1015Pro), c.2497delT, and c.6020_6027dup. The proportion of megabase deletions of the NF1 gene found in patients with MPNST (17%=4/24) was higher than that in a group of unselected NF1 patients (5.4%=27/500).

AB - Neurofibromatosis type 1 (NF1) patients have 10% of lifetime risk for developing malignant peripheral nerve sheath tumors (MPNST), one of the most aggressive cancers. We examined the spectrum of constitutional NF1 mutations among 24 NF1 patients with MPNST. We found mutations in 18 patients: four megabase deletions involving the NF1 gene, 13 truncating mutations, and only one missense mutation. One deletion included both exonic and intronic sequences. No typical splicing mutation was found. Five of these mutations were novel: c.3686delA, c.197_204+9del17, c.3044T>C (p.Leu1015Pro), c.2497delT, and c.6020_6027dup. The proportion of megabase deletions of the NF1 gene found in patients with MPNST (17%=4/24) was higher than that in a group of unselected NF1 patients (5.4%=27/500).

KW - Adolescent

KW - Adult

KW - Genes, Neurofibromatosis 1

KW - Humans

KW - Middle Aged

KW - Mutation

KW - Nerve Sheath Neoplasms

KW - Neurofibromatosis 1

U2 - 10.1002/humu.9193

DO - 10.1002/humu.9193

M3 - SCORING: Journal article

C2 - 14517963

VL - 22

SP - 420

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 5

ER -