title: [Germ-line mutations of the BRCA1 gene in northeastern France].
abstract: Thirty-seven breast/ovarian or breast-only cancer families selected on a regional basis have been analyzed for mutations at BRCA1. By combining direct sequence analysis and protein truncation test, mutations were detected in 14 families (38%). We found seven different mutations, two of which have not been described before. Mutations at BRCA1 were present in 60% of breast/ovarian and 32% of breast-only cancer families. Mutations were frequent in families with at least one breast cancer case before age 40 (44%) and/or one bilateral breast cancer case (54%). Two mutations, namely 3600del11 and G1710X, are frequent in the population native from northeastern France. Oriented BRCA1 analysis should facilitate carrier detection in breast and/or ovarian cancer families stemming from this French area.
authors.affiliation: CRLCC Paul-Strauss, 3, rue de la Porte-de-l'Hôpital, 67085 Strasbourg Cedex.
authors.forename: J P
authors.initials: JP
authors.lastname: Fricker
authors.forename: D
authors.initials: D
authors.lastname: Muller
authors.forename: B
authors.initials: B
authors.lastname: Cutuli
authors.forename: J F
authors.initials: JF
authors.lastname: Rodier
authors.forename: J C
authors.initials: JC
authors.lastname: Janser
authors.forename: G M
authors.initials: GM
authors.lastname: Jung
authors.forename: R
authors.initials: R
authors.lastname: Mors
authors.forename: T
authors.initials: T
authors.lastname: Petit
authors.forename: P
authors.initials: P
authors.lastname: Haegele
authors.forename: J
authors.initials: J
authors.lastname: Abecassis
mesh_terms: D000328:Adult; D000367:Age Factors; D001943:Breast Neoplasms / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics; D005260:Female; D005602:France; D019398:Genes, BRCA1 / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods