- The International Agency for Research on Cancer estimates that one in five individuals globally faces a lifetime risk of developing cancer, with 20 million new cases in 2022, projected to rise to 32 million cases by 2045.
- Inherited genetic mutations account for about 10% of these cancers, with specific syndromes, such as BRCA mutations, contributing significantly to breast, ovarian, and other cancers.
- BRCA Genes and Cancer Risk:
- Mutations in BRCA1 and BRCA2 genes significantly increase the risk of breast, ovarian, prostate, and other cancers.
- These mutations are particularly common in specific populations, like Ashkenazi Jews, due to genetic bottlenecks and founder effects.
- Genetic Screening and Prevention: Testing for BRCA mutations allows for earlier cancer detection and personalized preventive strategies such as increased surveillance, preventive surgery, or targeted therapies.
- Targeted Therapies: Poly (ADP-ribose) polymerase (PARP) inhibitors, combined with platinum-based chemotherapy, show promising results in treating BRCA-related cancers.
- CRISPR and Genetic Research: Tools like CRISPR enable targeted mutation analysis in genes like BRCA and RAD51C, helping to predict responses to therapies like PARP inhibitors.
| Key Terms: Genetic Bottleneck: A sharp reduction in population size that reduces genetic diversity, making the population more vulnerable to diseases or changes. Founder Effect: When a small group establishes a new population with limited genetic diversity, leading to certain traits becoming more common or rare due to the smaller gene pool. The BRCA1 and BRCA2 genes help repair damaged DNA and prevent uncontrolled cell growth. Mutations in these genes increase the risk of cancers, especially breast and ovarian cancer. |
Dig Deeper: Read about PARP inhibitors.
