A5088475176- Cutaneous lymphoproliferative disorders research
- T-cell and Retrovirus Studies
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Chromosomal and Genetic Variations
- Lymphoma Diagnosis and Treatment
- Autoimmune Bullous Skin Diseases
- Viral-associated cancers and disorders
- NF-κB Signaling Pathways
- Phytochemical compounds biological activities
- Melanoma and MAPK Pathways
- Mast cells and histamine
King's College London
2016-2019
Guy's Hospital
2019
University of Cambridge
2018
Phospholipase C Gamma 1 (PLCG1) is frequently mutated in primary cutaneous T-cell lymphoma (CTCL). This study functionally interrogated nine PLCG1 mutations (p.R48W, p.S312L, p.D342N, p.S345F, p.S520F, p.R1158H, p.E1163K, p.D1165H, and the in-frame indel p.VYEEDM1161V) identified Sézary Syndrome, leukemic variant of CTCL. The were demonstrated diagnostic samples persisted multiple tumor compartments over time, except patients who achieved a complete clinical remission. In basal conditions,...
<ns4:p><ns4:bold>Background:</ns4:bold> Germline mutations in the <ns4:italic>PALB2</ns4:italic> gene are associated with genetic disorder Fanconi anaemia and increased predisposition to cancer. Disease-associated variants mainly protein-truncating mutations, whereas a few missense substitutions reported perturb its interaction breast cancer susceptibility proteins BRCA1 BRCA2, which play essential roles homology-directed repair (HDR). More recently, PALB2 was shown associate active genes...
<ns4:p><ns4:bold>Background:</ns4:bold> Germline mutations in the <ns4:italic>PALB2</ns4:italic> gene are associated with genetic disorder Fanconi anaemia and increased predisposition to cancer. Disease-associated variants mainly protein-truncating mutations, whereas a few missense substitutions reported perturb its interaction breast cancer susceptibility proteins BRCA1 BRCA2, which play essential roles homology-directed repair (HDR). More recently, PALB2 was shown associate active genes...