Genetic factors involved in breast cancer

Abstract

According to the World Health Organization, as of 2021, breast cancer is the most common malignancy in women worldwide, accounting for up to 12% of all new cancer cases diagnosed each year. Moreover, breast cancer is the second leading cause of cancer-related death in women. In Romania, over 7.000 new breast cancer cases are diagnosed every year, with 80% of them being diagnosed in an advanced stage where treatment does not lead to curing the disease but only to prolonging life. The genetic factors identified to be involved in breast cancer risk comprise numerous biomarkers including the highly penetrant breast cancer susceptibility genes (BRCA1, BRCA2, PTEN, TP53, CDH1 and STK11), a number of genes with more moderate penetrance (CHEK2, BRIP1, ATM, PALB2) and low penetrance alleles. Prediction models suggest that, for now, there is a low probability to discover new high-penetrance genes.