What best describes the mutation associated with increased susceptibility to breast and ovarian cancer?

The mutation best associated with increased susceptibility to breast and ovarian cancer is one in the BRCA1 gene. It is crucial to understand that mutations in this specific gene can significantly impair the body’s ability to repair DNA double-strand breaks, leading to genomic instability. This destabilization increases the risk for various cancers, particularly breast and ovarian cancer.

While the answer given refers to the BRCA2 gene, both BRCA1 and BRCA2 are well-recognized for their roles in cancer susceptibility. However, BRCA1 mutations are more specifically highlighted in relation to the risk for ovarian cancer. BRCA1 mutations can lead to a lifetime risk of up to 72% for breast cancer and about 44% for ovarian cancer, making it particularly significant in the context of hereditary cancer syndromes.

Understanding the impact of these mutations on pathways involved in cell cycle regulation and DNA repair is critical for risk assessment, management, and potential preventative strategies for individuals carrying these mutations.