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Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients

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Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients : a method based on tumor analysis. / Kluwe, Lan; Friedrich, Reinhard E; Tatagiba, Marcos; Mautner, Victor F.

in: GENET MED, Jahrgang 4, Nr. 1, 2002, S. 27-30.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Kluwe, L, Friedrich, RE, Tatagiba, M & Mautner, VF 2002, 'Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis', GENET MED, Jg. 4, Nr. 1, S. 27-30. https://doi.org/10.109700125817-200201000-00005

APA

Kluwe, L., Friedrich, R. E., Tatagiba, M., & Mautner, V. F. (2002). Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis. GENET MED, 4(1), 27-30. https://doi.org/10.109700125817-200201000-00005

Vancouver

Kluwe L, Friedrich RE, Tatagiba M, Mautner VF. Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis. GENET MED. 2002;4(1):27-30. https://doi.org/10.109700125817-200201000-00005

Bibtex

@article{bc11cb1572f74416829f2d42ba8ab071,
title = "Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis",
abstract = "PURPOSE: To provide presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients in whom no NF2-mutations were found by screening their blood-DNA.METHODS: Tumors of four patients were analyzed for NF2 allele losses and mutations.RESULTS: Nonsense NF2 mutations and NF2 allele losses were found in all tumors. None of these alterations was found in any of eight children examined, suggesting that these children did not inherit the disease.CONCLUSIONS: Finding two genetic alterations of a tumor suppressor gene in associated tumors is useful for presymptomatic diagnosis. Identification of the lost allele in tumors alone also enables exclusion of disease transmission in 50% of cases.",
keywords = "Adult, Alleles, Codon, Nonsense, DNA Mutational Analysis, Female, Genes, Neurofibromatosis 2, Humans, Loss of Heterozygosity, Male, Middle Aged, Neurofibromatosis 2, Pedigree",
author = "Lan Kluwe and Friedrich, {Reinhard E} and Marcos Tatagiba and Mautner, {Victor F}",
year = "2002",
doi = "10.109700125817-200201000-00005",
language = "English",
volume = "4",
pages = "27--30",
journal = "GENET MED",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "1",

}

RIS

TY - JOUR

T1 - Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients

T2 - a method based on tumor analysis

AU - Kluwe, Lan

AU - Friedrich, Reinhard E

AU - Tatagiba, Marcos

AU - Mautner, Victor F

PY - 2002

Y1 - 2002

N2 - PURPOSE: To provide presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients in whom no NF2-mutations were found by screening their blood-DNA.METHODS: Tumors of four patients were analyzed for NF2 allele losses and mutations.RESULTS: Nonsense NF2 mutations and NF2 allele losses were found in all tumors. None of these alterations was found in any of eight children examined, suggesting that these children did not inherit the disease.CONCLUSIONS: Finding two genetic alterations of a tumor suppressor gene in associated tumors is useful for presymptomatic diagnosis. Identification of the lost allele in tumors alone also enables exclusion of disease transmission in 50% of cases.

AB - PURPOSE: To provide presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients in whom no NF2-mutations were found by screening their blood-DNA.METHODS: Tumors of four patients were analyzed for NF2 allele losses and mutations.RESULTS: Nonsense NF2 mutations and NF2 allele losses were found in all tumors. None of these alterations was found in any of eight children examined, suggesting that these children did not inherit the disease.CONCLUSIONS: Finding two genetic alterations of a tumor suppressor gene in associated tumors is useful for presymptomatic diagnosis. Identification of the lost allele in tumors alone also enables exclusion of disease transmission in 50% of cases.

KW - Adult

KW - Alleles

KW - Codon, Nonsense

KW - DNA Mutational Analysis

KW - Female

KW - Genes, Neurofibromatosis 2

KW - Humans

KW - Loss of Heterozygosity

KW - Male

KW - Middle Aged

KW - Neurofibromatosis 2

KW - Pedigree

U2 - 10.109700125817-200201000-00005

DO - 10.109700125817-200201000-00005

M3 - SCORING: Journal article

C2 - 11839955

VL - 4

SP - 27

EP - 30

JO - GENET MED

JF - GENET MED

SN - 1098-3600

IS - 1

ER -