wang wei

Author    Correspondence author
Cancer Genetics and Epigenetics, 2024, Vol. 12, No.   
Received: 01 Jan., 1970    Accepted: 01 Jan., 1970    Published: 11 Oct., 2024

Abstract Breast cancer is a multifaceted disease influenced by a combination of genetic, hormonal, and environmental factors. This study delves into the genetic underpinnings of breast cancer, focusing on high-penetrance mutations in BRCA1 and BRCA2, as well as moderate and low-penetrance genetic variants. The study synthesizes findings from genome-wide association studies (GWAS) and other large-scale collaborative efforts, highlighting the identification of novel susceptibility loci and their potential target genes. Additionally, it explores the role of genetic modifiers in BRCA1/2 carriers and the implications for risk prediction and personalized prevention strategies. The review also addresses the heterogeneity of breast cancer, emphasizing the distinct pathological characteristics of tumors in BRCA1/2 mutation carriers compared to those unselected for family history. By integrating insights from various genetic studies, this study aims to enhance the understanding of breast cancer pathogenesis and inform future research directions and clinical practices.