がん臨床試験ジャーナル

Genetic Predisposition: BRCA Gene Mutations and Ovarian Cancer

Abstract

Mudge Elizabeth

Genetics plays a pivotal role in our susceptibility to various diseases and one of the most well-known connections between genetic mutations and cancer risk is the link between BRCA gene mutations and ovarian cancer. The discovery of these mutations has transformed our understanding of hereditary ovarian cancer and opened the door to proactive risk management and early detection strategies. BRCA1 and BRCA2 are tumor suppressor genes that are instrumental in DNA repair. Mutations in these genes increase the risk of developing breast and ovarian cancers. The BRCA1 gene is located on chromosome 17, while BRCA2 is situated on chromosome 13. These genes encode proteins that help repair damaged DNA, preventing the accumulation of genetic errors that can lead to cancer.