Clinical follow up of mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes.
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).


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 BRCAI (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.
Calderón-Garcidueñas
Ana Laura
AL
Department of Pathology, Hospital de Especialidades No. 25, Instituto Mexicano del Seguro Social, Monterrey, Nuevo León, México.
Ruiz-Flores
Pablo
P
Cerda-Flores
Ricardo M
RM
Barrera-Saldaña
Hugo A
HA
D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D008800:Mexico; D009154:Mutation; D009367:Neoplasm Staging