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Last Posted: Jan 31, 2023
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Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations.
Junyi Xin et al. Genome medicine 2023 1 (1) 4

Using the UK Biobank cohort, we further validated a significant dose-response effect of PRSCSx on incident colorectal cancer, in which the risk was 2.11- and 3.88-fold higher in individuals with intermediate and high PRSCSx than in the low score subgroup (Ptrend = 8.15 × 10-53). Notably, the detrimental effect of being at a high genetic risk could be largely attenuated by adherence to a favorable lifestyle, with a 0.53% reduction in 5-year absolute risk.

Comparative Effectiveness of Immune Checkpoint Inhibitors vs Chemotherapy in Patients With Metastatic Colorectal Cancer With Measures of Microsatellite Instability, Mismatch Repair, or Tumor Mutational Burden.
Quintanilha Julia C F et al. JAMA network open 2023 1 (1) e2252244

What is the comparative effectiveness of first-line immune checkpoint inhibitors (ICIs) vs chemotherapy in standard practice settings among patients with metastatic colorectal cancer (MCRC) with high microsatellite instability (MSI-H) determined by next-generation sequencing (NGS)? In this comparative effectiveness research study of 138 patients with MCRC and MSI-H, patients receiving first-line ICIs vs chemotherapy had significantly more favorable time to next treatment, progression-free survival, and overall survival outcomes.

Molecular residual disease and efficacy of adjuvant chemotherapy in patients with colorectal cancer.
Kotani Daisuke et al. Nature medicine 2023 1

We report results from GALAXY, which is an observational arm of the ongoing CIRCULATE-Japan study (UMIN000039205) that analyzed presurgical and postsurgical ctDNA in patients with stage II–IV resectable CRC (n?=?1,039). In this cohort, with a median follow-up of 16.74 months (range 0.49–24.83 months), postsurgical ctDNA positivity (at 4?weeks after surgery) was associated with higher recurrence risk (hazard ratio (HR) 10.0, P?<?0.0001) and was the most significant prognostic factor associated with recurrence risk in patients with stage II or III CRC (HR 10.82, P?<?0.001).

Improved two-step testing of genome-wide gene–environment interactions
ES Kawagushi et al, Genetic Epidemiology, December 26, 2022

We introduce a new significance-based allocation into bins for Step-2 testing that overcomes the displacement issue and propose a computationally efficient approach to account for multiple testing within bins. Simulation results demonstrate that these simple improvements can provide substantially greater power than current methods under several scenarios. An application to a multistudy collaboration for understanding colorectal cancer reveals a G?×?Sex interaction located near the SMAD7 gene.

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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