Six novel mutations in the NF2 tumor suppressor gene.
Six novel mutations were identified in the NF2 tumor suppressor gene in a panel of meningiomas and neurinomas. Screening was performed using a combination of single-strand conformation polymorphism and heteroduplex analyses on polymerase chain reaction-amplified DNA from tumors and matched peripheral blood lymphocytes. Mutations involved exons 2, 7, 11 and 12, and corresponded to three frameshift, one nonsense, one missense and one polymorphism.
Leone
P E
PE
Instituto de Investigaciones Biomedicas (CSIC), Madrid, Spain.
Bello
M J
MJ
Mendiola
M
M
Vaquero
J
J
Sarasa
J L
JL
Kusak
M E
ME
De Campos
J M
JM
Pestana
A
A
Rey
J A
JA
D002869:Chromosome Aberrations; D016147:Genes, Tumor Suppressor; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D025581:Neurofibromin 2; D018807:Polymorphism, Single-Stranded Conformational
D008565:Membrane Proteins; D025581:Neurofibromin 2