Cáncer de mama familiar, BRCA1 positivo

Abstract

51 year old female found on check up a suspicious lesion in right breast, BIRADS IVa. Pathology reported a ductal infiltrative moderately differentiated cancer with two separate carcinomas of 2 and 1 mm each, progesterone and estrogen receptors. Familiar breast cancer is calculated to be about 5-10% of all breast cancers. The genes involved are: BCRA1 in 20%, BRCA2 in 20%, CHEK2 in 5%, TP 53 in 1%, although more than 50% of cases are not associated with a gen. BRCA1 is a gene in chromosome 17q21, tumor suppressor, involved in the regulation of the cellular cycle, repair of damaged DNA, maintenance of genomic stability and regulation of transcription. Specific indications are in use for BCRA gene scouting in women with family or personal history of breast or ovary cancer.