title: [Haplotype of the BRCA2 6857delAA mutation in 4 families with breast/ovarian cancer].
abstract: OBJECTIVE
  It is estimated that 5-10% of all breast cancers are hereditary, mainly are due to germline mutations in the BRCA1 and BRCA2 genes.
  
  
  METHODS
  A BRCA2 screening was carried out in familial breast/ovarian cancer at two centres in Spain and Chile. The 6857delAA mutation was identified in 3 Spanish families and one Chilean, all of them with Spanish ancestors. The BRCA2 haplotype of the 6857delAA carriers was analyzed using five microsatellite markers flanking the BRCA2 gene, spanning a region of 6 cM: cen-D13S260, D13S1698, (BRCA2), D13S171, D13S310 and D13S267-tel.
  
  
  RESULTS
  Two families shared the allelic variants of the 5 microsatellites studied. Markers D13S260 and D13S267 differed in one allele in two families, respectively. The defined haplotype was absent in non-carriers from these families, and was not detected in 100 control chromosomes without the mutation.
  
  
  CONCLUSIONS
  Our results suggest the existence of a common ancestry with the mutation originating in the Northeast of Spain. Given the migratory movements from Spain to Latin America, the screening of recurrent Spanish mutations can be useful in establishing a more rational and cost-effective analysis in such populations.
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: Carolina
authors.initials: C
authors.lastname: Alvarez
authors.forename: Lorena
authors.initials: L
authors.lastname: Palma
authors.forename: Montserrat
authors.initials: M
authors.lastname: Domènech
authors.forename: Judith
authors.initials: J
authors.lastname: Balmaña
authors.forename: Judit
authors.initials: J
authors.lastname: Sanz
authors.forename: Amaya
authors.initials: A
authors.lastname: Ramírez
authors.forename: Carmen
authors.initials: C
authors.lastname: Alonso
authors.forename: Pilar
authors.initials: P
authors.lastname: Carvallo
authors.forename: Montserrat
authors.initials: M
authors.lastname: Baiget
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D002677:Chile; D005260:Female; D024522:Genes, BRCA2; D006239:Haplotypes; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D013030:Spain