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No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

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No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. / Hutter, Sonja; Piro, Rosario M; Waszak, Sebastian M; Kehrer-Sawatzki, Hildegard; Friedrich, Reinhard E; Lassaletta, Alvaro; Witt, Olaf; Korbel, Jan O; Lichter, Peter; Schuhmann, Martin U; Pfister, Stefan M; Tabori, Uri; Mautner, Victor F; Jones, David T W.

In: HUM GENET, Vol. 135, No. 5, 05.2016, p. 469-75.

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

Harvard

Hutter, S, Piro, RM, Waszak, SM, Kehrer-Sawatzki, H, Friedrich, RE, Lassaletta, A, Witt, O, Korbel, JO, Lichter, P, Schuhmann, MU, Pfister, SM, Tabori, U, Mautner, VF & Jones, DTW 2016, 'No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients', HUM GENET, vol. 135, no. 5, pp. 469-75. https://doi.org/10.1007/s00439-016-1646-x

APA

Hutter, S., Piro, R. M., Waszak, S. M., Kehrer-Sawatzki, H., Friedrich, R. E., Lassaletta, A., Witt, O., Korbel, J. O., Lichter, P., Schuhmann, M. U., Pfister, S. M., Tabori, U., Mautner, V. F., & Jones, D. T. W. (2016). No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. HUM GENET, 135(5), 469-75. https://doi.org/10.1007/s00439-016-1646-x

Vancouver

Hutter S, Piro RM, Waszak SM, Kehrer-Sawatzki H, Friedrich RE, Lassaletta A et al. No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. HUM GENET. 2016 May;135(5):469-75. https://doi.org/10.1007/s00439-016-1646-x

Bibtex

@article{3bcd1e9b4730481aa88cb8b69faa999b,
title = "No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients",
abstract = "Neurofibromatosis type 1 (NF1) is a common monogenic disorder whereby affected individuals are predisposed to developing CNS tumors, including optic pathway gliomas (OPGs, occurring in ~15 to 20 % of cases). So far, no definite genotype-phenotype correlation determining NF1 patients at risk for tumor formation has been described, although enrichment for mutations in the 5' region of the NF1 gene in OPG patients has been suggested. We used whole exome sequencing, targeted sequencing, and copy number analysis to screen 77 unrelated NF1 patients with (n = 41) or without (n = 36; age ≥10 years) optic pathway glioma for germline NF1 alterations. We identified germline NF1 mutations in 69 of 77 patients (90 %), but no genotype-phenotype correlation was observed. Our data using a larger patient cohort did not confirm the previously reported clustering of mutations in the 5' region of the NF1 gene in patients with OPG. Thus, NF1 mutation location should not currently be used as a clinical criterion to assess the risk of developing OPGs.",
author = "Sonja Hutter and Piro, {Rosario M} and Waszak, {Sebastian M} and Hildegard Kehrer-Sawatzki and Friedrich, {Reinhard E} and Alvaro Lassaletta and Olaf Witt and Korbel, {Jan O} and Peter Lichter and Schuhmann, {Martin U} and Pfister, {Stefan M} and Uri Tabori and Mautner, {Victor F} and Jones, {David T W}",
year = "2016",
month = may,
doi = "10.1007/s00439-016-1646-x",
language = "English",
volume = "135",
pages = "469--75",
journal = "HUM GENET",
issn = "0340-6717",
publisher = "Springer",
number = "5",

}

RIS

TY - JOUR

T1 - No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

AU - Hutter, Sonja

AU - Piro, Rosario M

AU - Waszak, Sebastian M

AU - Kehrer-Sawatzki, Hildegard

AU - Friedrich, Reinhard E

AU - Lassaletta, Alvaro

AU - Witt, Olaf

AU - Korbel, Jan O

AU - Lichter, Peter

AU - Schuhmann, Martin U

AU - Pfister, Stefan M

AU - Tabori, Uri

AU - Mautner, Victor F

AU - Jones, David T W

PY - 2016/5

Y1 - 2016/5

N2 - Neurofibromatosis type 1 (NF1) is a common monogenic disorder whereby affected individuals are predisposed to developing CNS tumors, including optic pathway gliomas (OPGs, occurring in ~15 to 20 % of cases). So far, no definite genotype-phenotype correlation determining NF1 patients at risk for tumor formation has been described, although enrichment for mutations in the 5' region of the NF1 gene in OPG patients has been suggested. We used whole exome sequencing, targeted sequencing, and copy number analysis to screen 77 unrelated NF1 patients with (n = 41) or without (n = 36; age ≥10 years) optic pathway glioma for germline NF1 alterations. We identified germline NF1 mutations in 69 of 77 patients (90 %), but no genotype-phenotype correlation was observed. Our data using a larger patient cohort did not confirm the previously reported clustering of mutations in the 5' region of the NF1 gene in patients with OPG. Thus, NF1 mutation location should not currently be used as a clinical criterion to assess the risk of developing OPGs.

AB - Neurofibromatosis type 1 (NF1) is a common monogenic disorder whereby affected individuals are predisposed to developing CNS tumors, including optic pathway gliomas (OPGs, occurring in ~15 to 20 % of cases). So far, no definite genotype-phenotype correlation determining NF1 patients at risk for tumor formation has been described, although enrichment for mutations in the 5' region of the NF1 gene in OPG patients has been suggested. We used whole exome sequencing, targeted sequencing, and copy number analysis to screen 77 unrelated NF1 patients with (n = 41) or without (n = 36; age ≥10 years) optic pathway glioma for germline NF1 alterations. We identified germline NF1 mutations in 69 of 77 patients (90 %), but no genotype-phenotype correlation was observed. Our data using a larger patient cohort did not confirm the previously reported clustering of mutations in the 5' region of the NF1 gene in patients with OPG. Thus, NF1 mutation location should not currently be used as a clinical criterion to assess the risk of developing OPGs.

U2 - 10.1007/s00439-016-1646-x

DO - 10.1007/s00439-016-1646-x

M3 - SCORING: Journal article

C2 - 26969325

VL - 135

SP - 469

EP - 475

JO - HUM GENET

JF - HUM GENET

SN - 0340-6717

IS - 5

ER -