High risk of breast cancer is defined as a lifetime risk from age 20 of greater than or equal to 30%, a risk between age 40 and 50 of greater than 8% or known carriers of BRCA1, BRCA2 and TP53 GPVs and carriers of PTEN, CDH1 and STK11 GPVs [14]. The gene discussed is PTEN; the disease is breast carcinoma.