A5069196666- Cancer Immunotherapy and Biomarkers
- Drug Transport and Resistance Mechanisms
- CAR-T cell therapy research
- Pancreatic and Hepatic Oncology Research
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- HIV/AIDS drug development and treatment
- Genomics and Rare Diseases
- Immunotherapy and Immune Responses
- Epigenetics and DNA Methylation
- Genetic Associations and Epidemiology
- DNA and Nucleic Acid Chemistry
- Cystic Fibrosis Research Advances
- Lung Cancer Treatments and Mutations
- Breast Cancer Treatment Studies
- Genomic variations and chromosomal abnormalities
- Global Cancer Incidence and Screening
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Advanced biosensing and bioanalysis techniques
- Lung Cancer Research Studies
- Radiopharmaceutical Chemistry and Applications
Karolinska Institutet
2018-2024
Instituto de Investigación Biomédica de Málaga
2020
ATP-binding cassette (ABC) transporters constitute a superfamily of 48 structurally similar membrane that mediate the ATP-dependent cellular export plethora endogenous and xenobiotic substances. Importantly, genetic variants in ABC genes affect gene function have clinically important effects on drug disposition can be predictors risk adverse reactions efficacy chemotherapeutics, calcium channel blockers, protease inhibitors. Furthermore, loss-of-function is associated with variety congenital...
Abstract Autosomal recessive (AR) disorders pose a significant burden for public health. However, despite their clinical importance, epidemiology and molecular genetics of many AR diseases remain poorly characterized. Here, we analyzed the genetic variability 508 genes associated with based on sequencing data from 141,456 individuals across seven ethnogeographic groups by integrating variants documented pathogenicity ClinVar, stringent functionality predictions unknown pathogenicity. We...
Importance Breast cancers (BCs) diagnosed between 2 screening examinations are called interval (ICs), and they have worse clinicopathological characteristics poorer prognosis than screen-detected (SDCs). However, the association of rare germline genetic variants with IC not been studied. Objective To evaluate whether deleterious protein-truncating (PTVs) can be applied to discriminate SDC while considering mammographic density. Design, Setting, Participants This population-based study was...
Abstract Background Associations between germline alterations in women and cancer risks among their relatives are largely unknown. Methods We identified from 2 Swedish cohorts Karolinska Mammography Project for Risk Prediction of Breast Cancer (KARMA) prevalent KARMA (pKARMA), including 28 362 with genotyping data 13 226 sequencing data. Using Multi-Generation Register, we linked these to 133 389 first-degree relatives. protein-truncating variants 8 risk genes breast polygenic score index...
Multidrug resistance due to facilitated drug efflux mediated by ATP‐binding cassette (ABC) transporters is a main cause for failure of cancer therapy. Genetic polymorphisms in ABC genes affect the disposition chemotherapeutics and constitute important biomarkers therapeutic response toxicity. Here we correlated germline variability with disease‐specific survival (DSS) 960 breast (BRCA), 314 clear cell renal carcinoma 325 hepatocellular patients. We find that variant burden ABCC1 strong...
Resistance to Immune Checkpoint Blockade (ICB) constitutes the current limiting factor for optimal implementation of this novel therapy, which otherwise demonstrates durable responses with acceptable toxicity scores. This limitation is exacerbated by a lack robust biomarkers. In study, we have dissected basal TME composition at gene expression and cellular levels that predict response Nivolumab prognosis. BCR, TCR HLA profiling were employed further characterization molecular variables...
Abstract Background One of the main hurdles oncological therapy is development drug resistance. The ABC transporter gene family contributes majorly to cancer chemoresistance. However, effects somatic expression most transporters on outcomes remain largely unclear. Methods We systematically analyzed signatures all 48 human in samples from 8562 patients across 14 different types. association between CFTR ( ABCC7 ) and was experimentally using knock-downs pharmacological stimulation. Results...
Resistance to Immune Checkpoint Blockade (ICB) constitutes the current limiting factor for optimal implementation of this novel therapy that otherwise demonstrates durable responses with acceptable toxicity scores. This limitation is exacerbated by a lack robust biomarkers. In study, we have dissected basal TME composition at gene expression and cellular levels predict response Nivolumab prognosis. BCR, TCR HLA profiling were employed further characterization molecular variables associated...