Recent Publications by CFE Educators

With advances in cancer screening and treatment, there is a growing population of cancer survivors who may develop subsequent primary cancers. While hereditary cancer syndromes account for only a portion of multiple cancer cases, we sought to explore the role of common genetic variation in susceptibility to multiple primary tumors. We conducted a cross-ancestry genome-wide association study (GWAS) and transcriptome-wide association study (TWAS) of 10,983 individuals with multiple primary cancers, 84,475 individuals with single cancer, and 420,944 cancer-free controls from two large-scale studies. Our GWAS identified six lead variants across five genomic regions that were significantly associated (P5×10) with the risk of developing multiple primary tumors (overall and invasive) relative to cancer-free controls (at 3q26, 8q24, 10q24, 11q13.3, and 17p13). We also found one variant significantly associated with multiple cancers when comparing to single cancer cases (at 22q13.1). Multi-tissue TWAS detected associations with genes involved in telomere maintenance in two of these regions ( in 3q26 and and in 10q24) and the development of multiple cancers. Additionally, the TWAS also identified several novel genes associated with multiple cancers, including two immune-related genes, and . Telomere maintenance and immune dysregulation emerge as central, common pathways influencing susceptibility to multiple cancers. These findings underscore the importance of exploring shared mechanisms in carcinogenesis, offering insights for targeted prevention and intervention strategies.

OBJECTIVE

We determined whether socioeconomic status (SES) and sex are associated with functional status (FS) in axial spondyloarthritis (axSpA).

METHODS

We conducted a cohort study of patients with axSpA in the Rheumatology Informatics System for Effectiveness registry. We performed cross-sectional and longitudinal analyses of FS through the Multidimensional Health Assessment Questionnaire (MDHAQ) using generalized estimating equation models. Area Deprivation Index (ADI) was used as an SES proxy. The cross-sectional analysis tested for a linear trend across ADI quintiles for MDHAQ. The longitudinal analysis' outcome was functional decline. We reported predictive margins and assessed for interaction with sex. In the longitudinal analysis, we reported odds of functional decline.

RESULTS

In the cross-sectional analysis (N = 5,658), the mean ± SD age was 53.8 ± 15.2 years, 55.8% were female, and 71.4% were non-Hispanic White. The mean ± SD MDHAQ scores were 1.6 ± 2.0 in men versus 2.1 ± 2.2 in women. Predicted mean MDHAQ scores were 2.2 (95% confidence interval [CI] 1.8-2.7) for the lowest ADI quintile and 1.8 (95% CI 1.4-2.1) for the highest. Women had lower FSs compared to men across quintiles. In the longitudinal analysis (n = 2,341), the proportion with FS decline was 14.3% (95% CI 7.6-25.5%) for the lowest SES quintile compared to 9.6% (95% CI 5.2-17.1%) for the highest. Women had 1.7 (95% CI 1.3-2.2) times higher odds of functional decline compared to men. There was no interaction with sex.

CONCLUSION

In this large sample of patients with axSpA, those with lower SES had worse FS and functional decline. Women had worse FS than men, initially and over time.