title: Molecular genetic analysis of NBS1 in German melanoma patients.
abstract: The aim of this study was to investigate the role of NBS1 in the pathogenesis of malignant melanoma of the skin. To exclude the common 657del5 founder mutation, a total of 376 melanoma patients from Southern Germany were analyzed for sequence alterations in exon 6 of NBS1 by direct sequencing. Analyses revealed one 657del5 mutation and three nonsynonymous sequence variations in exon 6 of NBS1 (V210F, R215W, and F222L). Analysis of an additional sample of 629 melanoma patients and 604 controls revealed no F222L mutation, indicating that this newly identified sequence alteration is not a common polymorphism. In a case-control association study including 632 melanoma patients and 615 cancer-free control participants from Southern Germany, three publicly known single nucleotide polymorphisms located in the NBS1 gene region were analyzed. No significant associations between single nucleotide polymorphisms (rs9995, rs867185 and rs1063045) or referring calculated haplotypes and melanoma risk were identified. These results suggest that NBS1 does not play a major role in predisposition to melanoma in the Southern German population but that alterations of this gene might contribute to the risk of this cancer.
authors.affiliation: Institute of Human Genetics, Molecular Oncogenetics Unit, University Hospital, Tuebingen, Germany. Peter.Meyer@onkogenetik.de
authors.forename: Peter
authors.initials: P
authors.lastname: Meyer
authors.forename: Henrike
authors.initials: H
authors.lastname: Stapelmann
authors.forename: Bernd
authors.initials: B
authors.lastname: Frank
authors.forename: Raymonda
authors.initials: R
authors.lastname: Varon
authors.forename: Barbara
authors.initials: B
authors.lastname: Burwinkel
authors.forename: Christina
authors.initials: C
authors.lastname: Schmitt
authors.forename: Melanie Barbara
authors.initials: MB
authors.lastname: Boettger
authors.forename: Ruediger
authors.initials: R
authors.lastname: Klaes
authors.forename: Karl
authors.initials: K
authors.lastname: Sperling
authors.forename: Kari
authors.initials: K
authors.lastname: Hemminki
authors.forename: Stefan
authors.initials: S
authors.lastname: Kammerer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D020022:Genetic Predisposition to Disease; D005858:Germany; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins