title: The deletion of exons 3-5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families.
abstract: We recently described a novel g.8097_22733del14637 deletion encompassing exons 3-5 in BRCA1 gene. This rearrangement was detected in 3 of 15 (20 %) breast and/or ovarian cancer families of Eastern Spain. This finding made us suspect that the newly identified deletion could be a founder mutation. To confirm this hypothesis we studied 18 subjects belonging to the three families under study, 11 deletion carriers and 7 non-carriers. We performed a haplotype analysis using two BRCA1 intragenic microsatellite markers and two markers surrounding the BRCA1 locus. The segregation analysis showed one common particular haplotype established by D17S1325, D17S1323, D17S855 and D17S1320 markers detected in the deletion carriers but absent in the non-carriers. Our study sustain that the deletion of exons 3-5 of BRCA1, g.8097_22733del14637, identified in families of southeastern of the Valencian Community is the first founder rearrangement until now reported in Spanish population, confirming the hypothesis that this mutation could have Iberian ancestry.
authors.affiliation: Laboratorio de Biología Molecular, Escuela de Enfermería 7ª planta, Hospital Universitario La Fe, Avd. Campanar 21, 46009, Valencia, Spain.
authors.forename: Sarai
authors.initials: S
authors.lastname: Palanca
authors.forename: Inmaculada
authors.initials: I
authors.lastname: de Juan
authors.forename: Gema
authors.initials: G
authors.lastname: Perez-Simó
authors.forename: Eva
authors.initials: E
authors.lastname: Barragán
authors.forename: Isabel
authors.initials: I
authors.lastname: Chirivella
authors.forename: Eduardo
authors.initials: E
authors.lastname: Martínez
authors.forename: Oscar
authors.initials: O
authors.lastname: Fuster
authors.forename: Pascual
authors.initials: P
authors.lastname: Bolufer
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D020090:Chromosome Segregation; D005091:Exons / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion; D013030:Spain