US EditionGenetic Variant Cuts Blood Cancer by 20%
A rare genetic variant reduces Musashi2 protein activity in blood stem cells, lowering the risk of myeloid cancers and clonal hematopoiesis expansion by about 20%, researchers said.
- On Thursday, researchers led by Vijay Sankaran published in Science that the rs17834140-T variant reduces myeloid malignancy risk by 20% and lowers MSI2 levels.
- Using data from more than 640,000 people, Agarwal et al. performed a GWAS meta-analysis as tissues age and accumulate mutations that drive clonal hematopoiesis .
- Using gene-edited human hematopoietic stem cells, the authors showed rs17834140-T disrupts a GATA-2 binding site, reducing Musashi2 protein and making one copy carriers less likely to expand clones and 1.8-fold more likely to lose them.
- Researchers caution that MSI2 is currently hard to downregulate, revealing a potential avenue for therapeutics in pre-cancerous CHIP despite clinical risks like increased bleeding or infection and lower blood counts noted in carriers.
- People with clonal hematopoiesis of indeterminate potential face up to a 60% risk of blood cancer over 5 to 10 years, but management remains unresolved.
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9 Articles
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy - Nature Genetics
With age, clonal expansions occur pervasively across normal tissues yet only in rare instances lead to cancer, despite being driven by well-established cancer drivers. Characterization of the factors that influence clonal progression is needed to inform interventional approaches. Germline genetic variation influences cancer risk and shapes tumor mutational profile, but its influence on the mutational landscape of normal tissues is not well known…
Inheritable genetic variant offers protection against blood cancer risk and progression
A newly identified and rare genetic variant slows the growth of mutated blood stem cells, researchers report, and it reduces the risk of leukemia. The findings offer insight into why some people are naturally more resistant to clonal expansion and age-related blood cancers despite acquiring risky mutations. As tissues age, they quietly accumulate many mutations that can drive cancer. In the blood-forming, or hematopoietic, system, such mutations…
National Institutes of Health (NIH)…
biorxiv.orgInherited resilience to clonal hematopoiesis by modifying stem cell RNA regulation
Somatic mutations that increase hematopoietic stem cell (HSC) fitness drive their expansion in clonal hematopoiesis (CH) and predispose to blood cancers. Although CH frequently occurs with aging, it rarely progresses to overt malignancy. Population ...
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