The Global Burden of Cancer and the Role of Genetics
Context:
Estimates from the International Agency for Research on Cancer suggest that one in five people globally faces a lifetime risk of developing cancer, with one in nine males and one in twelve females dying from it.
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- In 2022, 20 million new cancer cases and 9.74 million cancer-related deaths were recorded, and these numbers are projected to rise significantly to 32 million new cases and 16 million deaths by 2045.
- Asia is expected to account for nearly half of these cases.
- Cancer occurs due to genetic mutations in the body’s genome, and about 10% of cancers are linked to inherited mutations.
- Certain cancers, like ovarian cancer, show a higher prevalence of inherited mutations (20%), while breast, colorectal, lung, and prostate cancers have a 10% association, and cervical cancer has a lower rate of 6%.
BRCA Genes and Hereditary Cancer Syndromes:
- Hereditary Cancers: Hereditary cancers have been well documented, with more than 50 known genetic syndromes predisposing individuals to cancer.
- BCRA: The discovery of the BRCA1 and BRCA2 DNA-repair genes in the 1990s advanced our understanding of hereditary cancer syndromes.
- BRCA mutations are associated with an increased risk of breast, ovarian, and fallopian tube cancers in women, and prostate and male breast cancers in men.
- Mutations in BRCA genes can also raise the risk of other cancers, such as pancreatic, colorectal, and uterine cancers.
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BRCA1 and BRCA2 are genes that produce proteins responsible for repairing damaged DNA. Proper functioning of these genes is essential for maintaining genomic stability and preventing cancerous changes in cells. |
Importance of Genetic Testing and Targeted Therapies:
- Identification: Testing for BRCA mutations is crucial for identifying individuals at higher risk, enabling personalised prevention strategies like increased surveillance, preventive surgeries, or targeted therapies.
- CRISPR: Advanced tools like CRISPR screens have significantly improved the study of cancer-related gene mutations.
- CRISPR-Cas9 technology allows researchers to create specific mutations in BRCA genes, aiding in the study of their impact on DNA repair and cancer development.
Broader Genetic Risk:
- RAD51C gene: A recent study by the Wellcome Sanger Institute identified over 3,000 genetic changes in the RAD51C gene, which plays a key role in DNA repair and cancer risk.
- Genome Editing: Using a technique called saturation genome editing, researchers found that 3,094 variants could significantly increase the risk of breast and ovarian cancers.
Genome EditingAlso known as gene editing or genome engineering, it is a set of technologies that allow scientists to make precise alterations to the DNA of living organisms. This process can involve adding, removing, or modifying genetic material at specific locations within an organism’s genome.
Key Features of Genome Editing:
Common Technologies:
Applications: Research, Agriculture and Medicine. Ethical Considerations: Safety, Consent and Equity. |
Early Detection and Prevention
- Population Prevalence Studies: These are vital for identifying the distribution of hereditary cancers across different groups.
- Regular Genetic Screening: It is crucial for early cancer detection, allowing for informed healthcare decisions, preventive treatment, and lifestyle changes.
Ultimately, early detection of cancer can reduce morbidity and mortality, leading to healthier lives for all.