In News:

The International Agency for Research on Cancer’s estimates of the burden of 36 cancers in 185 countries suggest one in five individuals has a lifetime risk of developing cancer.

• Impact of CRISPR on Cancer Research:
  • CRISPR screens have revolutionized the study of BRCA genes through high-throughput functional genetic analysis.
  • Researchers use CRISPR-Cas9 to create specific mutations in BRCA genes, studying their effects on DNA repair and cancer development.
• Cancer Statistics:
  • One in five individuals has a lifetime risk of developing cancer (International Agency for Research on Cancer).
  • In 2022, there were approximately 20 million new cancer cases and 9.74 million cancer-related deaths; projections suggest these could rise to 32 million new cases and 16 million deaths by 2045, with Asia potentially accounting for half of the cases.
• Genetic Mutations and Inheritance:
  • All cancers stem from genetic mutations; about 10% of cancer cases may involve inherited mutations.
  • Specific inherited mutation prevalence:
    • 20% in ovarian cancer patients.
    • 10% in breast, colorectal, lung, and prostate cancers.
    • 6% in cervical cancer.
• BRCA Genes Overview:
  • The BRCA1 and BRCA2 genes, discovered in 1994 and 1995, are crucial for understanding hereditary cancer syndromes.
  • Mutations in BRCA genes significantly increase the risk of breast, ovarian, and prostate cancers.
  • BRCA mutations are estimated to occur in 1 in 400 individuals, with higher prevalence (1 in 40) among Ashkenazi Jews due to genetic bottlenecks and founder effects.
• Importance of Genetic Testing:
  • Testing for BRCA mutations helps identify individuals at higher risk, enabling personalized prevention strategies such as increased surveillance or preventive surgery.
  • The American Society of Clinical Oncology recommends testing for 15 genes related to breast and ovarian cancer risk.
• Targeted Therapies:
  • PARP inhibitors represent a new class of chemotherapy drugs effective for cancers with BRCA mutations.
  • Clinical trials show promising results, especially when combined with platinum-based chemotherapy.
• Advancements in Understanding Cancer Genes:
  • CRISPR technology has improved our understanding of cancer-related genes, enabling researchers to study the effects of specific mutations.
  • Studies have identified how different mutations influence responses to therapies like PARP inhibitors.
• Recent Research Findings:
  • Research from the Wellcome Sanger Institute identified over 3,000 genetic changes in the RAD51C gene that could significantly increase breast and ovarian cancer risk.
  • Variants disrupting RAD51C function can increase ovarian cancer risk six-fold and aggressive breast cancer risk four-fold.
• Risk Spectrum:
  • Genetic risk is a spectrum based on how mutations affect protein function.
  • Large-scale variant analysis is vital for personalized medicine and cancer prevention.
• Role of Population Studies:
  • Population prevalence studies help identify hereditary cancer risks and inform genetic screening for at-risk individuals.
  • Early cancer detection allows for better healthcare decisions and potential preventive therapies.
• Goals for Cancer Management:
  • The ultimate aim is to reduce cancer morbidity and mortality, leading to healthier lives for individuals and families.