title: BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.
abstract: The entire coding regions of BRCA1 and BRCA2 were screened for mutations by heteroduplex analysis in 51 Mexican breast cancer patients. One BRCA1 and one BRCA2 truncating mutation each was identified in the group of 32 (6%) early-onset breast cancer patients (< or =35 years). Besides these two likely deleterious mutations, eight rare variants of unknown significance, mostly in the BRCA2 gene, were detected in six of 32 (19%) early-onset breast cancer cases and in three of 17 (18%) site-specific breast cancer families, one containing a male breast cancer case. No mutations or rare sequence variants have been identified in two additional families including each an early-onset breast cancer case and an ovarian cancer patient. The two truncating mutations (BRCA1 3857delT; BRCA2 2663-2664insA) and six of the rare variants have never been reported before and may be of country-specific origin. The majority of the alterations appeared to be distinct, with only one of them being observed in more than one family.
authors.affiliation: Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Mexico. pruiz206@yahoo.com
authors.forename: Pablo
authors.initials: P
authors.lastname: Ruiz-Flores
authors.forename: Olga M
authors.initials: OM
authors.lastname: Sinilnikova
authors.forename: Michael
authors.initials: M
authors.lastname: Badzioch
authors.forename: A L
authors.initials: AL
authors.lastname: Calderon-Garcidueñas
authors.forename: Sandrine
authors.initials: S
authors.lastname: Chopin
authors.forename: Odefrey
authors.initials: O
authors.lastname: Fabrice
authors.forename: J F
authors.initials: JF
authors.lastname: González-Guerrero
authors.forename: Csilla
authors.initials: C
authors.lastname: Szabo
authors.forename: Gilbert
authors.initials: G
authors.lastname: Lenoir
authors.forename: David E
authors.initials: DE
authors.lastname: Goldgar
authors.forename: Hugo A
authors.initials: HA
authors.lastname: Barrera-Saldaña
mesh_terms: D000328:Adult; D017668:Age of Onset; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D008800:Mexico; D009154:Mutation
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D004273:DNA, Neoplasm