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Somatic mutations in telomere maintenance genes

There is 1 paper on somatic mutations in telomere maintenance genes in aging research: 1 observational study in people.

Biomarker

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“While no controls carried somatic mutations in telomere maintenance genes (0 of 28), 29% of adults with germline telomere maintenance defects carried at least one (16 of 56, P<0.001).”
Somatic reversion impacts MDS/AML evolution in the short telomere syndromesbioRxiv (Cold Spring Harbor Laboratory)2021doi:10.1101/2021.05.26.445858
  • Humans1

Associations

1

Short telomere syndrome

upin humans1

1 study

  1. Short telomere syndrome is associated with somatic mutations in telomere maintenance genes in adults with germline telomere maintenance defects vs controls (29% vs 0%, P<0.001).

    “While no controls carried somatic mutations in telomere maintenance genes (0 of 28), 29% of adults with germline telomere maintenance defects carried at least one (16 of 56, P<0.001).”

    Humansin adults with germline telomere maintenance defects vs controls

    Somatic reversion impacts MDS/AML evolution in the short telomere syndromes

    bioRxiv (Cold Spring Harbor Laboratory)Preprint

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