Onkologie. 2008:2(1):44-48

GENETICS OF BREAST CARCINOMA

Lenka Foretová

Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav, Brno

Five to ten percent of breast carcinoma is caused by monogenic hereditary predisposition. The main predisposition genes BRCA1 and BRCA2 were discovered in 1994 and 1995. Molecular genetic testing of these genes is possible in indicated cases like bilateral or early-onset breast cancer, familiar occurrence of the disease, breast and ovarian cancer in a patient and in some rare histological types of breast cancer. Prevention in carriers of mutation should be complex and cover risks of other cancers as ovarian, colorectal, pancreatic, stomach, gall bladder, melanoma, prostate and breast in men. Predictive testing is possible in relatives 18 years and older in families with detected mutation. In a proportion of families pathogenic mutation is not detected by molecular genetic methods but monogenic inheritance is very probable. Testing of healthy relatives is not possible, but preventive surveillance is necessary in all individuals at risk. In those families germline mutations in other genes may be a cause of genetic predisposition.

Keywords: genetic testing, BRCA1 gene, BRCA2 gene, mutation, hereditary predisposition, prevention

Published: April 1, 2008  Show citation