title: Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.
abstract: A frame-shift 9254del5 mutation was independently identified in 12 families, eleven of them with Spanish ancestors, in a BRCA2 screening performed in 841 breast and/or ovarian cancer families and in 339 women with breast cancer diagnosed before the age of 40 at different centers in France and Spain. We sought to analyze in detail the haplotype and founder effects of the 9254del5 and to estimate the time of origin of the mutation. Eight polymorphic microsatellite markers and two BRCA2 polymorphisms were used for the haplotype analyses. The markers were located flanking the BRCA2 gene spanning a region of 6.1 cM. Our results suggest that these families shared a common ancestry with BRCA2 9254del5, which is a founder mutation originating in the Northeast Spanish, with an estimated age of 92 (95% CI 56-141) generations.
authors.affiliation: Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Berta
authors.initials: B
authors.lastname: Campos
authors.forename: Orland
authors.initials: O
authors.lastname: Díez
authors.forename: Fabrice
authors.initials: F
authors.lastname: Odefrey
authors.forename: Montserrat
authors.initials: M
authors.lastname: Domènech
authors.forename: Virginie
authors.initials: V
authors.lastname: Moncoutier
authors.forename: José Ignacio
authors.initials: JI
authors.lastname: Martínez-Ferrandis
authors.forename: Ana
authors.initials: A
authors.lastname: Osorio
authors.forename: Judith
authors.initials: J
authors.lastname: Balmaña
authors.forename: Alicia
authors.initials: A
authors.lastname: Barroso
authors.forename: María Eugenia
authors.initials: ME
authors.lastname: Armengod
authors.forename: Javier
authors.initials: J
authors.lastname: Benítez
authors.forename: Carmen
authors.initials: C
authors.lastname: Alonso
authors.forename: Dominique
authors.initials: D
authors.lastname: Stoppa-Lyonnet
authors.forename: David
authors.initials: D
authors.lastname: Goldgar
authors.forename: Montserrat
authors.initials: M
authors.lastname: Baiget
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D024522:Genes, BRCA2; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D012008:Recurrence; D013030:Spain / Q000453:epidemiology
chemical_list: D024682:BRCA2 Protein