Resumo

CALDERON-GARCIDUENAS, Ana Laura; RUIZ-FLORES, Pablo; CERDA-FLORES, Ricardo M  e  BARRERA-SALDANA, Hugo A. Clinical follow up of Mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes. Salud pública Méx [online]. 2005, vol.47, n.2, pp.110-115. ISSN 0036-3634.

OBJECTIVE: This study describes the presence of mutations in BRCA1 and BRCA2 genes in a group of Mexican women and the clinical evolution of early onset breast cancer (EOBC). MATERIAL AND METHODS: A prospective hospital-based study was performed in a sample of 22 women with EOBC (7 in clinical stage IIA, 8 in IIB, and 7 in IIIA). The patients attended a tertiary care hospital in northeastern Mexico in 1997 and were followed up over a 5-year period. Molecular analysis included: 1) a mutation screening by heteroduplex analysis (HA) of BRCA1 and BRCA2 genes and 2) a sequence analysis. RESULTS: Of 22 patients, 14 (63.6%) showed a variant band detected by heteroduplex analysis of the BRCA1 and BRCA2 genes: 8 polymorphisms, 4 mutations of uncertain significance, and 2 novel truncated protein mutations, one in BRCA1 (exon 11, 3587delT) and the other in the BRCA2 gene (exon 11, 2664InsA). CONCLUSIONS: These findings support future studies to determine the significance and impact of the genetic factor in this Mexican women population.

Palavras-chave : breast cancer; BRCA genes; Mexico.