title: Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families.
abstract: BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, polymorphisms, and variants have been described, several mutations have been found to be recurrent in this gene. We have analyzed 63 Chilean breast/ovarian cancer families for eighteen frequent BRCA1 mutations. The analysis of the five exons and two introns in which these mutations are located was made using mismatch PCR assay, ASO hybridization assay, restriction fragment analysis, allele specific PCR assay and direct sequentiation techniques. Two BRCA1 mutations (185delAG and C61G) and one variant of unknown significance (E1250K) were found in four of these families. Also, a new mutation (4185delCAAG) and one previously described polymorphism (E1038G) were found in two other families. The 185delAG was found in a 3.17% of the families and the others were present only in one of the families of this cohort. Therefore these mutations are not prominent in the Chilean population. The variant of unknown significance and the polymorphism detected could represent a founder effect of Spanish origin.
authors.affiliation: Human Genetics Program, Institute of Biomedical Sciences, School of Medicine, University of Chile, Santiago, Chile. ljara@machi.med.uchile.cl
authors.forename: Lilian
authors.initials: L
authors.lastname: Jara
authors.forename: Sandra
authors.initials: S
authors.lastname: Ampuero
authors.forename: Eudocia
authors.initials: E
authors.lastname: Santibáñez
authors.forename: Lorena
authors.initials: L
authors.lastname: Seccia
authors.forename: Juan
authors.initials: J
authors.lastname: Rodríguez
authors.forename: Mario Bustamante Guillermo
authors.initials: MB
authors.lastname: Lay-Son
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Ojeda
authors.forename: José Miguel
authors.initials: JM
authors.lastname: Reyes
authors.forename: Rafael
authors.initials: R
authors.lastname: Blanco
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics; D002677:Chile; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012307:Risk Factors; D044465:White People