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

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Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). / 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, Viktor Felix.

In: HUM MUTAT, Vol. 29, No. 1, 1, 2008, p. 74-82.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Upadhyaya, M, Kluwe, L, Spurlock, G, Monem, B, Majounie, E, Mantripragada, K, Ruggieri, M, Chuzhanova, N, Evans, DG, Ferner, R, Thomas, N, Guha, A & Mautner, VF 2008, 'Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).', HUM MUTAT, vol. 29, no. 1, 1, pp. 74-82. <http://www.ncbi.nlm.nih.gov/pubmed/17960768?dopt=Citation>

APA

Upadhyaya, M., Kluwe, L., Spurlock, G., Monem, B., Majounie, E., Mantripragada, K., Ruggieri, M., Chuzhanova, N., Evans, D. G., Ferner, R., Thomas, N., Guha, A., & Mautner, V. F. (2008). Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). HUM MUTAT, 29(1), 74-82. [1]. http://www.ncbi.nlm.nih.gov/pubmed/17960768?dopt=Citation

Vancouver

Upadhyaya M, Kluwe L, Spurlock G, Monem B, Majounie E, Mantripragada K et al. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). HUM MUTAT. 2008;29(1):74-82. 1.

Bibtex

@article{f641ca92a3594cdc9b4c4e16bdff967f,
title = "Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).",
abstract = "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 important. A study was undertaken to identify the constitutional and somatic NF1 mutations in 34 MPNSTs from 27 NF1 patients. The NF1 germline mutations identified in 22 lymphocytes DNA from these patients included seven novel mutations and a large 1.4-Mb deletion. The NF1 germline mutation spectrum was similar to that previously identified in adult NF1 patients without MPNST. Somatic NF1 mutations were identified in tumor DNA from 31 out of 34 MPNSTs, of which 28 were large genomic deletions. The high prevalence (>90%) of such deletions in MPNST contrast with the =or",
author = "M Upadhyaya and Lan Kluwe and G Spurlock and Bisma Monem and E Majounie and K Mantripragada and Martino Ruggieri and N Chuzhanova and Evans, {D G} and R Ferner and N Thomas and A Guha and Mautner, {Viktor Felix}",
year = "2008",
language = "Deutsch",
volume = "29",
pages = "74--82",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

AU - Upadhyaya, M

AU - Kluwe, Lan

AU - Spurlock, G

AU - Monem, Bisma

AU - Majounie, E

AU - Mantripragada, K

AU - Ruggieri, Martino

AU - Chuzhanova, N

AU - Evans, D G

AU - Ferner, R

AU - Thomas, N

AU - Guha, A

AU - Mautner, Viktor Felix

PY - 2008

Y1 - 2008

N2 - 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 important. A study was undertaken to identify the constitutional and somatic NF1 mutations in 34 MPNSTs from 27 NF1 patients. The NF1 germline mutations identified in 22 lymphocytes DNA from these patients included seven novel mutations and a large 1.4-Mb deletion. The NF1 germline mutation spectrum was similar to that previously identified in adult NF1 patients without MPNST. Somatic NF1 mutations were identified in tumor DNA from 31 out of 34 MPNSTs, of which 28 were large genomic deletions. The high prevalence (>90%) of such deletions in MPNST contrast with the =or

AB - 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 important. A study was undertaken to identify the constitutional and somatic NF1 mutations in 34 MPNSTs from 27 NF1 patients. The NF1 germline mutations identified in 22 lymphocytes DNA from these patients included seven novel mutations and a large 1.4-Mb deletion. The NF1 germline mutation spectrum was similar to that previously identified in adult NF1 patients without MPNST. Somatic NF1 mutations were identified in tumor DNA from 31 out of 34 MPNSTs, of which 28 were large genomic deletions. The high prevalence (>90%) of such deletions in MPNST contrast with the =or

M3 - SCORING: Zeitschriftenaufsatz

VL - 29

SP - 74

EP - 82

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 1

M1 - 1

ER -