Precision Medicine

A cohort study of individuals with Telomere Biology Disorders found an increased #cancer risk compared with the general population, with the earliest age at onset for individuals with AR/XLR inheritance. Cancer risks increased after organ transplant across all subgroups. These differences in TBD-associated cancer risks by mode of inheritance suggest cancer screening could be tailored by genotype, but additional research is warranted. https://lnkd.in/g3UhxpgE

Regional Hereditary Cancer Program addresses significant gaps in genetic counseling and testing in Chile’s public health system. This scalable model enhances early detection and personalized treatment for hereditary cancer patients and could be adapted to other regions across Latin America. https://lnkd.in/gMuyVpYD

CanVIG-UK propose a framework for the classification of variants of reduced penetrance in high-penetrance genes. These principles, although developed for cancer susceptibility genes, are potentially applicable to other clinical contexts. https://lnkd.in/gXqgamp2

In this secondary analysis of 563 patients in the PREPARE trial, carriers of any actionable genotype in the intervention arm showed a significant 90% decrease in clinically relevant toxic effects, reduced number of hospitalizations, and lower toxic effect management cost per patient. No significant decrease in the intensity of treatment and 3-year overall survival was observed. https://lnkd.in/g5cxekPT

#Liquid Biopsy can provide insights into minimal residual disease monitoring in colorectal cancer

Evidence suggest that there are limited data to suggest that inadvertent transgene insertion is associated with SPCs in the post–CAR-T setting. Nonetheless, evidence-based practical solutions and scientific strategies for risk mitigation can be implemented. These include optimization of T-cell manufacturing, application of safer synthetic immunobiology, and implementation of high-fidelity genomic testing, including baseline screening for clonal hematopoiesis. These strategies may inform optimal design of the next generation of CAR-T products that confer minimal risk for SPCs such that the risk-benefit profile remains favorable to proceed with CAR-T administration for eligible patients. https://ja.ma/3BpYQK4

Readworthy commentary by Howard McLeod and colleagues on multigene pharmacogenomic testing in Oncology https://lnkd.in/g_f2Za-v

Universal genetic testing identifies actionable germline pathogenic variants in more than 1 in 20 patients with newly diagnosed breast cancer and is associated with systemic therapy recommendations in one-third of these cases. https://lnkd.in/gC-3TT5z

When mice are engineered to carry a variant of the human PCSK9 gene, they experience higher rates of breast cancer metastasis, as is apparent in this image of mouse lung tissue showing PCSK9’s impact. https://lnkd.in/gQS26R68