title: A misquoted mutation in exon16 of the BRCA2 gene.
abstract: A pathogenic mutation in the BRCA2 gene, nt7602del16, has been misquoted as a mutation, possibly due to the incorrect inclusion of the last 16 nucleotides of exon15 of the BRCA2 gene as part of the intron15-exon16 BRCA2 gene sequence in publicly available databases. This was concluded following mutational screening by sequencing and enzymatic mapping of the BRCA2 gene exon15-exon16 region in DNA from peripheral blood samples from a total of 74 breast cancer and non-breast cancer patients as well as healthy individuals and the cell line MCF7. Careful interpretation of genetic variants and direct feedback to the corresponding sequence databases prevent systemic errors by integrating updated data into broadly referenced sources.
authors.affiliation: Laboratory of Surgical Research, 1st Department of Propaedeutic Surgery, Hippokrateio Hospital, University of Athens, Vas. Sofias 114, 11527, Athens, Greece. labsures@med.uoa.gr.
authors.forename: Agapi
authors.initials: A
authors.lastname: Kataki
authors.affiliation: Laboratory of Surgical Research, 1st Department of Propaedeutic Surgery, Hippokrateio Hospital, University of Athens, Vas. Sofias 114, 11527, Athens, Greece.
authors.forename: Anastasia
authors.initials: A
authors.lastname: Derventzi
authors.affiliation: Laboratory of Surgical Research, 1st Department of Propaedeutic Surgery, Hippokrateio Hospital, University of Athens, Vas. Sofias 114, 11527, Athens, Greece.
authors.forename: Ilias
authors.initials: I
authors.lastname: Gomatos
authors.affiliation: Laboratory of Surgical Research, 1st Department of Propaedeutic Surgery, Hippokrateio Hospital, University of Athens, Vas. Sofias 114, 11527, Athens, Greece.
authors.forename: Manoussos M
authors.initials: MM
authors.lastname: Konstadoulakis
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics; D003110:Colonic Neoplasms / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics; D004247:DNA; D005091:Exons; D024522:Genes, BRCA2; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D004247:DNA