Biomedical subjects

Elizabeth B Claus

Publications and source records attributed to Elizabeth B Claus.

2 recordsLinked to original sources

PubMed2025

Optimizing participant and community engagement in cancer genomic sequencing research.

PURPOSE: We describe strategies implemented across research centers of the Participant Engagement and Cancer Genome Sequencing (PE-CGS) Network to optimize engagement of participants and communities in cancer genomics research. We also present consensus definitions of engagement and engagement optimization, informed by our shared experiences in the Network. METHODS: Key informant interviews and a document review identified engagement and optimization strategies across PE-CGS research centers. Findings were synthesized using qualitative content analysis. Consensus on definitions of engagement and optimization were developed through iterative review by PE-CGS members. RESULTS: PE-CGS research centers adopted tailored strategies based on community needs and scientific gaps. Engagement strategies included community-based efforts (eg, advisory boards and newsletters) and participant-focused approaches (eg, enhanced informed consent and decision support tools). Optimization strategies leveraged scientific methods (eg, randomized controlled trials and surveys) to evaluate engagement. Engagement was described as the sustained and meaningful interactions between researchers, participants, and communities. Optimization was described as the application of scientific methods to refine and improve engagement and research processes and outcomes. CONCLUSION: Engagement and optimization strategies have informed research planning, conduct, and dissemination across PE-CGS. These approaches and definitions provide a foundation for developing evidence-based practices to strengthen participant and community involvement in cancer genomics research.

Humans↗

PubMed2025

Glioma mutational signatures associated with haloalkane exposure are enriched in firefighters.

BACKGROUND: Glioma is the most common malignant primary brain tumor and is associated with significant morbidity and mortality. Modifiable risk factors remain unidentified. New advances in exposure assessment, genomic analyses, and statistical techniques permit more accurate evaluation of glioma risk associated with exogenous occupational or environmental exposures. METHODS: By using whole-exome sequencing data from matched germline and glioma tumor samples, the authors compared tumor mutational signatures for 17 persons with glioma and a documented occupational history of firefighting with those of 18 persons with glioma without an occupational history of firefighting. All 35 individuals were participants in the University of California, San Francisco Adult Glioma Study. RESULTS: There was a positive correlation among firefighters between the median number of sample variants attributable to single-base substitution signature 42, a single-base substitution mutational signature associated with haloalkane exposure (from the Catalogue of Somatic Mutational Signatures in Cancer) and firefighting years (p = .04; R2 = 0.29). Among nonfirefighters, the individuals with the highest number of median variants attributable to single-base substitution signature 42 also had occupations that possibly exposed them to haloalkanes, such as painting and being a mechanic. CONCLUSIONS: In summary, the authors identified gliomas that had mutational signatures associated with haloalkane exposure that were enriched in firefighters and other occupations.

Humans↗