Johns Hopkins study may upend theory of chromosome instability's link to cancer

According to Johns Hopkins Medicine researchers, their recent study may upend a long-held theory of chromosome instability contributing to cancer risk for people with short telomeres.

The study, published in Cancer Cell, studied 226 people with premature aging syndromes caused by abnormally short telomeres — repetitive DNA sequences at the ends of chromosomes — for 20 years. Over the study, 35 patients developed cancer: 21 had blood cancers and 14 developed solid tumors. Researchers sequenced the whole genome of eight of the squamous cancers and found no signs of chromosomal instability.

"In fact, these cancers seem to have less chromosomal instability than comparable squamous cancers that arise in people without short telomere syndromes," Mary Armanios, MD, professor of oncology and director of the telomere center at Baltimore-based Johns Hopkins' Sidney Kimmel Comprehensive Cancer Center, said in the release.

The study suggested immune system cells that age and die, or vanish prematurely, are linked to the increased risk of certain cancers in people with short telomere syndromes, not chromosomal instability. 

"This study reinforces how incredibly important the immune system is in surveilling our cells for cancer as we age," Dr. Armanios said.

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