Circulating biomarkers of response to immunotherapy in cancer treatment.
Published in Pharmacogenomics
Use of circulating tumoral DNA to guide treatment for metastatic melanoma.
Published in Pharmacogenomics
The management of metastatic cutaneous melanoma is conditioned by the identification of BRAF-activating mutations in tumor DNA. Tumor genotyping is usually performed on DNA extracted from tissue samples. However, these invasive samples are rarely repeated during follow-up, and their analysis requires a sample pre-treatment which may take several we...
DNA repair capacity and response to treatment of colon cancer.
Published in Pharmacogenomics
DNA repair, a complex biological process, ensures genomic integrity. Alterations in DNA repair, occurring in many cancers, contribute to the accumulation of mutations in the genome, resulting in genomic instability and cancer progression. DNA repair also plays a substantial role in response to chemotherapeutics: rapidly dividing colon cancer cells,...
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants...
Published in Pharmacogenomics
Aim: Identify variants in RYR1, CACNA1S and STAC3, and predict malignant hyperthermia (MH) pathogenicity using Bayesian statistics in individuals clinically treated as MH susceptible (MHS). Materials & methods: Whole exome sequencing including RYR1, CACNA1S and STAC3 performed on 64 subjects with: MHS; suspected MH event or first-degree relative; a...
Integration of machine learning and pharmacogenomic biomarkers for predicting response to antidepressant treatment: can ...
Published in Pharmacogenomics
APOE polymorphism is associated with blood lipid and serum uric acid metabolism in hypertension or coronary heart diseas...
Published in Pharmacogenomics
Aim: To explore the association of APOE polymorphism (rs7412:526C>T and rs429358:388T>C) with glucose, lipid and serum uric acid (UA) metabolism in patients with hypertension or coronary heart disease (CHD). Methods: A total of 544 patients with hypertension or CHD were selected for this study from March 2017 to January 2018. According to the APOE ...
Characterizing the pharmacogenome using molecular inversion probes for targeted next-generation sequencing.
Published in Pharmacogenomics
Aim: This study assesses the technical performance and cost of a targeted next-generation sequencing (NGS) multigene pharmacogenetic (PGx) test. Materials & methods: A genetic test was developed for 21 PGx genes using molecular inversion probes to generate library fragments for NGS. Performance of this test was assessed using 53 unique reference co...
Nanopore sequencing of the pharmacogene CYP2D6 allows simultaneous haplotyping and detection of duplications.
Published in Pharmacogenomics
Aim: Long read sequencing offers the promise of overcoming some of the challenges in accurate genotyping of complex genes, along with the advantage of straightforward variant phasing. We have established methods for sequencing and haplotyping of the whole CYP2D6 gene using nanopore sequencing. Materials and methods: 32 samples covering various hapl...
miRNAs in drug response variability: potential utility as biomarkers for personalized medicine.
Published in Pharmacogenomics
MicroRNAs (miRNAs) are 18-22 nucleotide RNA molecules that modulate the expression of multiple protein-encoding genes at the post-transcriptional level. Almost all physiological conditions are probably modulated by miRNAs, including pharmacological response. Indeed, acting on the regulation of numerous genes involved in the pharmacokinetics and pha...
Processes and barriers to implementation of point-of-care genotype-guided dosing of warfarin into UK outpatient anticoag...
Published in Pharmacogenomics
