title: Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations.
abstract: Our aim was to analyze the incidence of mutations in BRCA1 and BRCA2 genes in 54 families with breast/ovarian cancer. Families were selected from three Institutions following the standard criteria for hereditary breast/ovarian cancer. PCR amplification of all exons was performed, followed by SSCP, heteroduplex, PTT and sequencing analysis. We identified eight truncation mutations, three in the BRCA1 gene and five in the BRCA2 gene. Three of these mutations have not been reported previously by other groups: 308insA in one family, 3936 C>T in two families, for BRCA1, and 4970insTG in one family for BRCA2. In addition two families having Ashkenazi Jewish ancestors present the well known mutations 185delAG and 6174delT. Interestingly, 5 out of 11 families have mutations recurrent in Spanish families. Among the 54 families selected, seven have breast and ovary cancer cases, and only two presented a mutation in BRCA1 or BRCA2 genes. Other cancers as prostate and stomach are frequent among relatives carrying the mutation. Five cases of very early onset (<31 years old) breast cancer were detected. The frequencies of BRCA1 (0.074) and BRCA2 (0.13) mutations in our families is low but similar to the incidence found in other populations, like in Spain. Since is widely known that risk factors that modulate the development of breast cancer such as lifestyle risk factors, geographic location, country of origin and socioeconomic status, besides a familial history of breast cancer our findings suggest that the history of colonization and immigrations is very relevant when studying hereditary factors associated to breast cancer.
authors.affiliation: Departamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Casilla 114-D, Santiago, Chile.
authors.forename: Marcela
authors.initials: M
authors.lastname: Gallardo
authors.forename: Antonia
authors.initials: A
authors.lastname: Silva
authors.forename: Lorena
authors.initials: L
authors.lastname: Rubio
authors.forename: Carolina
authors.initials: C
authors.lastname: Alvarez
authors.forename: Carolina
authors.initials: C
authors.lastname: Torrealba
authors.forename: Mauricio
authors.initials: M
authors.lastname: Salinas
authors.forename: Teresa
authors.initials: T
authors.lastname: Tapia
authors.forename: Paola
authors.initials: P
authors.lastname: Faundez
authors.forename: Lorena
authors.initials: L
authors.lastname: Palma
authors.forename: María Eugenia
authors.initials: ME
authors.lastname: Riccio
authors.forename: Hernando
authors.initials: H
authors.lastname: Paredes
authors.forename: Mario
authors.initials: M
authors.lastname: Rodriguez
authors.forename: Adolfo
authors.initials: A
authors.lastname: Cruz
authors.forename: Christine
authors.initials: C
authors.lastname: Rousseau
authors.forename: Mary Claire
authors.initials: MC
authors.lastname: King
authors.forename: Mauricio
authors.initials: M
authors.lastname: Camus
authors.forename: Manuel
authors.initials: M
authors.lastname: Alvarez
authors.forename: Pilar
authors.initials: P
authors.lastname: Carvallo
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D002677:Chile / Q000453:epidemiology; D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012307:Risk Factors