A5063673805- Ocular Oncology and Treatments
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Cancer Immunotherapy and Biomarkers
- Immunotherapy and Immune Responses
- Retinal Development and Disorders
- Telomeres, Telomerase, and Senescence
- Ubiquitin and proteasome pathways
- Vibrio bacteria research studies
- Autoimmune and Inflammatory Disorders Research
- DNA Repair Mechanisms
- Microbial Community Ecology and Physiology
- Cancer-related gene regulation
- Parvovirus B19 Infection Studies
- Carcinogens and Genotoxicity Assessment
- Immune Cell Function and Interaction
- Plant Genetic and Mutation Studies
- Cutaneous Melanoma Detection and Management
- Methane Hydrates and Related Phenomena
La Ligue Contre le Cancer
2018-2022
Inserm
2016-2022
Institut Curie
2018-2022
Université Paris Sciences et Lettres
2019-2022
Hôpital Sainte-Marguerite
2018
Délégation Paris 5
2016
Université Paris Cité
2016
Sorbonne Paris Cité
2016
Uveal melanoma (UM) arises from malignant transformation of melanocytes in the uveal tract eye. This rare tumor has a poor outcome with frequent chemo-resistant liver metastases. BAP1 is only known predisposing gene for UM. UMs are generally characterized by low mutation burden, but some display high level CpG>TpG mutations associated MBD4 inactivation. Here, we explored incidence germline variants consecutive series 1093 primary UM case patients and 192 tumors monosomy 3 (M3).We performed...
Abstract Background Uveal melanoma (UM), a rare malignant tumor of the eye, is predominantly observed in populations European ancestry. UMs carrying monosomy 3 (M3) frequently relapse mainly liver, whereas with disomy (D3) are associated more favorable outcome. Here, we explored UM genetic predisposition factors large genome-wide association study (GWAS) 1142 patients and 882 healthy controls . Methods We combined 2 independent datasets (Global Screening Array) dataset described previously...
Nijmegen breakage syndrome caused by biallelic pathogenic variants of the DNA-damage response gene NBN, is characterized severe microcephaly, cancer proneness, infertility, and karyotype abnormalities. We previously reported NBN in siblings suffering from fertility defects. Here, we identify a new founder variant (c.442A>G, p.(Thr148Ala)) Lebanese patients associated with isolated infertility. Functional analyses explored preserved or altered functions correlated their remarkably mild...
The TERT/CLPTM1L risk locus on chromosome 5p15.33 is a pleiotropic cancer in which multiple independent alleles have been identified, across well over ten types. We previously conducted genome-wide association study uveal melanoma (UM), uncovered role for the this intraocular tumor and identified highly correlated alleles. Aiming to unravel biological mechanisms UM of locus, contains domain enriched active chromatin marks enhancer elements, we demonstrated allele-specific activity region...