Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families

Jara, L; Ampuero S.; Santibanez, E; Seccia, L; Rodriguez J.; Bustamante, M; Lay-Son, G; Ojeda, JM; Reyes, JM; Blanco, R

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

Más información

Título según WOS: Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families
Título según SCIELO: Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families
Título de la Revista: BIOLOGICAL RESEARCH
Volumen: 37
Asunto: 3
Editorial: SOC BIOLGIA CHILE
Fecha de publicación: 2004-01-01
Página de inicio: 469
Página final: 481
Idioma: English
DOI/URL:

10.4067/S0716-97602004000300011

Identificador: 10.4067/S0716-97602004000300011
Notas: ISI, SCIELO