Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Main|Search|PHGKB
Search PHGKB:

Last Posted: Jun 04, 2024
spot light Highlights

Genomic sequencing research in pediatric cancer care: Decision-making, attitudes, and perceived utility among adolescents and young adults and their parents

From the abstract: "Professional guidelines recommend engaging adolescents and young adults (AYAs) in medical decision-making (DM), including whether to undergo genomic sequencing (GS). We explored DM around GS and attitudes after return of GS results among a diverse group of AYAs with cancer and their parents. Methods: We surveyed AYAs with cancer (n=75) and their parents (n=52) six months after receiving GS results through the Texas KidsCanSeq Study. We analyzed AYAs’ DM role in GS research enrollment and their satisfaction with that role. We compared AYAs’ and parents’ self-reported understanding of, attitudes toward, and perceived utility of the AYAs’ GS results. "

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.


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.

TOP