Exploring High-Penetrance Genes in Breast Cancer Associated Genetic Syndromes: Insights into Genetic Predisposition and Clinical Implications

Breast cancer, the most common cancer in women globally, has a genetic predisposition in 5-10% of cases. This paper examines high-penetrant genes TP53, PTEN, CDH1, and STK11, which are associated with hereditary syndromes such as Peutz-Jeghers, Hereditary Diffuse Gastric Cancer, Cowden, and Li-Fraumeni. Mutations in these high penetrant genes significantly increases breast cancer risk, resulting in subtypes characterized by higher nuclear grading, increased invasiveness, and greater metastasis potential. Understanding the molecular mechanisms and interactions of these genes with various breast cancer subtypes is essential for improving risk assessment, early detection, and the development of personalized treatment strategies.