title: Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families.
abstract: BRCA1 accounts for nearly all families with multiple cases of both early onset breast and ovarian cancer and about 45% of families with breast cancer only. Although to date more than 200 distinct mutations have been described, several have been found to be recurrent in the gene. We have analyzed 87 Spanish breast/ovarian cancer families for the six most recurrent mutations in the BRCA1 gene. The analysis of the five exons where these mutations are located was made using the SSCP and sequenciation techniques. Four mutations were found in our families and only two carried one of the six mutations analyzed. In both cases the mutation identified was 185delAG. Our results suggest that these six mutations are not specially recurrent in the Spanish population and that differences in the geographical origin of the families can influence the type and proportion of mutations identified.
authors.affiliation: Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain. genetical@uni.fdj.es
authors.forename: A
authors.initials: A
authors.lastname: Osorio
authors.forename: M
authors.initials: M
authors.lastname: Robledo
authors.forename: J
authors.initials: J
authors.lastname: Albertos
authors.forename: O
authors.initials: O
authors.lastname: Díez
authors.forename: C
authors.initials: C
authors.lastname: Alonso
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: J
authors.initials: J
authors.lastname: Benítez
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D013030:Spain
chemical_list: D004273:DNA, Neoplasm