annie huang

Abstract Rhabdoid tumour predisposition syndrome (RTPS) is a highly penetrant cancer predisposition syndrome caused by germline variants in SMARCB1 or less frequently in SMARCA4. Genetic testing for this syndrome involves sequence and deletion/duplication analysis of these two genes. Standard clinical testing is limited in detecting structural variants.

Abstract Rhabdoid tumours (RT) are malignancies of the central nervous system, kidneys, liver and soft tissues that most commonly affect very young children with survival rates below 30% in high-risk cohorts. Treatment entails surgery, intensive chemotherapy and radiotherapy, associated with substantial short- and long-term toxicities. There is an unmet need to develop targeted therapies for RT to improve patient outcomes and mitigate the toxicities of current therapy.

Keywords cis-regulatory DNA elements silencers high-throughput reporter screens transcriptional repression transcription factors transcription co-factors protein domain analysis Drosophila melanogaster Introduction Multicellular organisms rely on precise activation and repression of distinct sets of genes according to cell type and extra- or intracellular signals during both development and throughout adult homeostasis.