Inherited gene changes linked to immune-cell cancer risk
UK Biobank participants carrying the variants had more immune-cell cancers than noncarriers, with an estimated 45% diagnosed by age 80.
51 participants, cohort study
Limit: Recruitment through cancer-related genetic testing could overrepresent cancer in the family group
Edited by Boris Djordjevic · AgingResearch.News
An observational study examined 51 people from 24 families carrying harmful inherited variants in a gene that regulates chromosome-cap length. The gene, POT1, helps limit the length of these protective DNA caps, called telomeres. Participants’ median age was 51, their ages ranged from 5 to 94, and 23 were male.
The researchers also identified 210 carriers in UK Biobank. These carriers had longer telomeres and higher rates of cancers arising from immune cells than noncarriers. The adjusted hazard ratio was 8.28, a relative measure of cancer occurrence over time. Among 20 symptom-free carriers tested in the family study, 12 (60%) had groups of B or T immune cells descended from a single cell.
Why it matters
Telomeres influence how long cells can keep dividing. The authors interpret their findings as evidence that extended cellular longevity from long telomeres is an inherited risk factor for lymphoma, a cancer of immune cells.
Caveats
This observational study could not establish that longer telomeres caused cancer. The family group was recruited largely through cancer-related genetic testing, and the findings concern carriers of specific POT1 variants, not everyone with long telomeres.
