Hereditary breast cancer and screening in high-risk population

Abstract

It is estimated that for breast cancer, as well as for the great majority of malignant tumors, 5 to 10% are due to an inherited predisposition. Family history of cancer in first degree relatives and the presence of some specific risk factors, such as bilateral breast cancer, family history of breast and ovarian cancer, and breast cancer in a male person, are important indicators of risk for hereditary breast cancer. Advances in molecular biology in recent decades have resulted in the identification of genes that, when altered, increase significantly the risk of developing breast cancer, ovarian cancer and other tumors, for example, the tumor suppressor genes BRCA1 and BRCA2, as well as other genes predisposing to breast cancer identified, which are equally important in the risk for the disease, although a smaller portion of match cases hereditary. The ability to identify patients and relatives with high risk for developing cancer makes possible the use of a preventive approach and an early detection of cancer. In addition, the identification of a non-carrier individual in a family of high risk allows him to reassures the modification individual and eliminates expenses/complications with unnecessary preventive interventions. The typical profile of a patient with higher risk is high prevalence of breast cancer, earlier ages at cancer diagnosis and the worst prognosis and evolution of the tumor. In this way, follow up for these patients must be different in order to achieve the reduction of morbidity and mortality associated with cancer in this population.