Recommended care for women with proven BRCA1 and BRCA2 mutation

04/2017

Doc. MUDr. Lenka Foretová, Ph.D.

Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav, Brno

SUMMARY

Hereditary cause, inherited mutation in BRCA1 or BRCA2 genes, is responsible for 3-5% of unselected breast cancer cases and 15-20% of ovarian cancer cases. The carriers of these mutations have many times increased risk of breast, ovarian cancer, but also the risks of other solid tumors. Preventive care should be offered through comprehensive oncology and gynecology centers. Women carriers of mutations should be seen from age of 25 by oncologist every 6 month with ultrasound and MRI of breasts, from 30-65 with mammography and MRI, followed by ultrasound and mammography itself. Prophylactic bilateral mastectomy decreases the risk of breast cancer from 85% of lifetime risk to only 1-5%. Prophylactic oophorectomy is necessary for the reduction of risk of ovarian cancer, since no preventive care is effective for early detection of ovarian cancer. Explaining all these preventive procedures, their importance for cancer risk reduction, is important part of specialized preventive care.

KEY WORDS

hereditary breast and ovarian cancer syndrome, mutations BRCA1, mutations BRCA2, breast cancer, ovarian cancer, prevention, prophylactic surgery