title: A simple approach for classifying new mutations as somatic or germinal in DNA samples lacking paired tissue.
abstract: When studying mutations in DNA samples, determining whether novel sequence changes are somatic mutations or germline polymorphisms can be difficult. Here we describe a novel and very simple approach for identification of somatic mutations and loss of heterozygosity (LoH) events in DNA samples where no matched tissue sample is available. Our method makes use of heterozygous polymorphisms that are located near the putative mutation to trace both germinal alleles.
authors.affiliation: Department of Biochemistry and Genetics, University of Navarra, Pamplona, Spain.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Erquiaga
authors.affiliation: Department of Biochemistry and Genetics, University of Navarra, Pamplona, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Hurtado
authors.affiliation: Department of Biochemistry and Genetics, University of Navarra, Pamplona, Spain.
authors.forename: Paula
authors.initials: P
authors.lastname: Aranaz
authors.affiliation: Department of Biochemistry and Genetics, University of Navarra, Pamplona, Spain.
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Novo
authors.affiliation: Department of Biochemistry and Genetics, University of Navarra, Pamplona, Spain.
authors.forename: José L
authors.initials: JL
authors.lastname: Vizmanos
mesh_terms: D000483:Alleles; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D006801:Humans; D019656:Loss of Heterozygosity; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D004247:DNA
keywords: cancer; loss of heterozygosity; mutation detection; somatic mutation