Updated
Updated · Nature.com · May 5
Researchers develop age-based framework to identify cancer-causing mutations
Updated
Updated · Nature.com · May 5

Researchers develop age-based framework to identify cancer-causing mutations

3 articles · Updated · Nature.com · May 5
  • Using cancer and normal tissue genomes from blood, esophagus and colon, the team found stronger driver mutations are enriched in younger patients and analysed 4,736 acute myeloid leukaemia cases.
  • The model can infer carcinogenicity from patient age even without normal-tissue data, and suggests age patterns in acute myeloid leukaemia often reflect normal blood evolution rather than distinct childhood mutations.
  • Published in Nature Genetics, the work challenges equating positive selection with cancer causation and could improve mutation risk assessment, prevention strategies and prioritisation of therapeutic targets.
If cancer is a disease of aging, why are the deadliest mutations more common in younger patients?
A common mutation helps normal cells thrive but stops cancer. How is this possible?

Age-Based Mutation Analysis Framework Reveals 0.077 Mutations/Megabase/Year Driving Cancer Evolution Across 35 Types

Overview

The Age-Based Mutation Analysis Framework (2024–2025) integrates patient age with genomic data from over 20,000 tumors to reveal how mutation patterns evolve across the lifespan. It shows that mutation burden steadily increases with age, with specific genes like CREBBP and ASXL1 more frequently mutated in older patients, while younger patients' tumors often have high-impact mutations such as TP53 and FLT3. Clonal hematopoiesis, an age-related expansion of mutated blood stem cells, significantly raises cancer risk and contributes to therapy-related blood cancers. This framework advances personalized cancer care by linking age-specific mutation profiles to prognosis, treatment response, and risk prediction, paving the way for age-informed diagnosis and targeted therapies.

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