Figure 4 demonstrates how loss of PTEN wild-type activity can lead to downstream cellular proliferation and contribute to cancer. Further, functional studies were done which found the mutation also impacted the cellular localization of PTEN compared to wild type [10]. Because the laboratory also noted that this pathogenic variant had been identified as a de novo mutation in a female with macrocephaly and breast cancer at age 29, this genetic finding was consistent with the patients clinical findings [11]. The gene discussed is PTEN; the disease is breast cancer.