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, Vol. 22, No. 5, 01.11.2003, p. 420.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -