title: Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
abstract: BRCA1 and BRCA2 germline mutations cause a substantially increased life time risk of both breast and ovarian cancer. Mutational screening of these genes by means of Denaturing High Performance Liquid Chromatography (DHPLC) in breast and/or ovarian cancer-prone families from Southern Germany revealed 15 novel BRCA1 and 8 novel BRCA2 sequence variants. Predictions on the BRCA1/BRCA2 protein functions lead to the identification of 11 novel deleterious cancer predisposing mutations. Mutation types and their functional relevances are discussed. Our data contribute to phenotype-genotype correlation studies and to the characterisation of the mutation spectrum of BRCA1/BRCA2.
authors.affiliation: Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany. Peter.Meyer@onkogenetik.de
authors.forename: Peter
authors.initials: P
authors.lastname: Meyer
authors.forename: Theda
authors.initials: T
authors.lastname: Voigtlaender
authors.forename: Claus R
authors.initials: CR
authors.lastname: Bartram
authors.forename: Ruediger
authors.initials: R
authors.lastname: Klaes
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D005190:Family; D005260:Female; D016368:Frameshift Mutation; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D005858:Germany; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010051:Ovarian Neoplasms / Q000235:genetics*; D011471:Prostatic Neoplasms / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D018389:Codon, Nonsense