Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

About 10% of neurofibromatosis type 1 (NF1) patients develop malignant peripheral nerve sheath tumors (MPNSTs) and represent considerable patient morbidity and mortality. Elucidation of the genetic mechanisms by which inherited and acquired NF1 disease gene variants lead to MPNST development is impo...

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Veröffentlicht in:	Human mutation 2008, Vol.29 (1), p.74-82
Hauptverfasser:	Upadhyaya, M, Kluwe, Lan, Spurlock, G, Monem, Bisma, Majounie, E, Mantripragada, K, Ruggieri, Martino, Chuzhanova, N, Evans, D.G, Ferner, R, Thomas, N, Guha, A, Mautner, V
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult DNA Mutational Analysis DNA, Neoplasm - metabolism Germ-Line Mutation germline mutations Humans Loss of Heterozygosity Lymphocytes - metabolism malignant peripheral nerve sheath tumor Mutation Nerve Sheath Neoplasms - genetics neurofibromatosis type 1 Neurofibromin 1 - genetics Neurofibromin 1 - metabolism NF1 Peripheral Nervous System Neoplasms - genetics Sequence Deletion somatic mutations TP53 Tumor Suppressor Protein p53 - genetics Tumor Suppressor Protein p53 - metabolism
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