Premature thymic functional senescence is a hallmark of childhood acute lymphoblastic leukemia survivorship
The researchers investigated thymic immunosenescence in childhood acute lymphoblastic leukemia (cALL) survivors. The healthy participant cohort consisted of participants from the CARTaGENE cohort and an institutional cohort from the Centre Hospitalier de l’Université de Montréal. The thymic immunosenescence biomarker, signal joint T-cell receptor excision circles (TREC), was evaluated and was highly correlated with age in healthy participants and cALL survivors. While TREC levels declined with age in both groups, cALL survivors exhibited a systematic immunoage acceleration ranging from 5.9 to 88.3 years. This immunoage gain was independent of age at diagnosis and treatment modalities but was more pronounced in females and those with metabolic syndrome. The decline in TREC was unrelated to blood cell counts, suggesting selective thymic aging.
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases
Researchers investigated families with a history of ovarian cancer that couldn’t be explained by known genetic risk factors. Using healthy controls from CARTaGENE, they applied a targeted gene approach and found rare genetic variants in DNA repair pathway genes, particularly in ERCC5, EXO1, FANCC, NEIL1, and NTHL1, in a significant portion of these families.
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene
Researchers investigated the genetic characteristics of the FANCI gene, which has been linked to an increased risk of ovarian cancer. Using data from 171 CARTaGENE participants and other sources, they confirmed that a specific FANCI variant is associated with ovarian cancer and discovered potential genetic links to other cancer types.