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Last Posted: Mar 26, 2024
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Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors.
Todd M Gibson et al. Nat Med 2024 3

From the abstract: "Survivors of childhood cancer are at increased risk for subsequent cancers attributable to the late effects of radiotherapy and other treatment exposures; thus, further understanding of the impact of genetic predisposition on risk is needed. Combining genotype data for 11,220 5-year survivors from the Childhood Cancer Survivor Study and the St Jude Lifetime Cohort, we found that cancer-specific polygenic risk scores (PRSs) derived from general population, genome-wide association study, cancer loci identified survivors of European ancestry at increased risk of subsequent basal cell carcinoma (odds ratio per s.d. of the PRS: OR?=?1.37, 95% confidence interval (CI)?=?1.29–1.46), female breast cancer (OR?=?1.42, 95% CI?=?1.27–1.58), thyroid cancer (OR?=?1.48, 95% CI?=?1.31–1.67), squamous cell carcinoma (OR?=?1.20, 95% CI?=?1.00–1.44) and melanoma (OR?=?1.60, 95% CI?=?1.31–1.96) "

Health-Related quality of life and DNA Methylation-Based aging biomarkers among survivors of childhood cancer.
Noel-Marie Plonski et al. J Natl Cancer Inst 2024 3

From the abstract: "Childhood cancer survivors are at high risk for morbidity and mortality and poor patient-reported outcomes, typically health-related-quality-of-life (HRQOL). However, associations between DNA methylation (DNAm)-based aging biomarkers and HRQOL have not been evaluated. DNAm was generated with Infinium EPIC BeadChip on blood-derived DNA (median[range] for age at blood draw?=?34.5[18.5-66.6] years) and HRQOL was assessed with age at survey (32.3[18.4-64.5] years) from 2,206 survivors in the St Jude Lifetime Cohort. "

Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients
C. Shroeder et al, EJHG, July 28, 2023

We evaluated clinical trio genome sequencing (TGS) in a cohort of 72 pediatric patients with solid cancers other than retinoblastoma or CNS-tumours. The most prevalent cancer types were sarcoma (n?=?26), neuroblastoma (n?=?15), and nephroblastoma (n?=?10). Overall, P/LP variants in CPS genes were identified in 18.1% of patients (13/72) and P/LP variants in autosomal-dominant CPS genes in 9.7% (7/72). Genetic evaluation would have been recommended for the majority of patients with P/LP variants according to the Jongmans criteria.

Precision Medicine Is Changing the Roles of Healthcare Professionals, Scientists, and Research Staff: Learnings from a Childhood Cancer Precision Medicine Trial
R Daly et al, JPM, June 23, 2023

We conducted semi-structured interviews with 85 PRISM professionals from eight professional groups, including oncologists, surgeons, clinical research associates, scientists, genetic professionals, pathologists, animal care technicians, and nurses. We analyzed interviews thematically. Professionals shared that precision medicine can add complexity to their role and result in less certain outcomes for families. Although many participants described experiencing a greater emotional impact from their work, most expressed very positive views about the impact of precision medicine on their profession and its future potential.

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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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