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, Jahrgang 135, Nr. 5, 05.2016, S. 469-75.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -