title: Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families.
abstract: In this study we investigated 45 German breast/ovarian cancer families for germline mutations in the BRCA1 gene. We identified four germline mutations in three breast cancer families and in one breast-ovarian cancer family. among these were one frameshift mutation, one nonsense mutation, one novel splice site mutation, and one missense mutation. The missense mutation was also found in 2.8% of the general population, suggesting that it is not disease associated. The average age of disease onset in those families harbouring causative mutations was between 32.3 and 37.4 years, whereas the family harbouring the missense mutation had an average age of onset of 51.2 years. These findings show that BRCA1 is implicated in a small fraction of breast/ovarian cancer families suggesting the involvement of another susceptibility gene(s).
authors.affiliation: Deutsches Krebsforschungszentrum, Division of Molecular Genome Analysis, Heidelberg, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Hamann
authors.forename: M
authors.initials: M
authors.lastname: Häner
authors.forename: U
authors.initials: U
authors.lastname: Stosiek
authors.forename: G
authors.initials: G
authors.lastname: Bastert
authors.forename: R J
authors.initials: RJ
authors.lastname: Scott
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics; D002886:Chromosomes, Human, Pair 17; D005260:Female; D005787:Gene Frequency; D018095:Germ-Line Mutation; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree
chemical_list: D019313:BRCA1 Protein