Brigitte Bressac–de Paillerets
A5057231943- BRCA gene mutations in cancer
- Cutaneous Melanoma Detection and Management
- Cancer-related Molecular Pathways
- Cancer Genomics and Diagnostics
- melanin and skin pigmentation
- Melanoma and MAPK Pathways
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Cancer, Hypoxia, and Metabolism
- CRISPR and Genetic Engineering
- Renal cell carcinoma treatment
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Renal and related cancers
- Immunotherapy and Immune Responses
- Ocular Oncology and Treatments
- Epigenetics and DNA Methylation
- Genetics, Bioinformatics, and Biomedical Research
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Hedgehog Signaling Pathway Studies
- Ovarian cancer diagnosis and treatment
- CAR-T cell therapy research
- Cancer Research and Treatments
- Neuroendocrine Tumor Research Advances
Institut Gustave Roussy
2015-2025
Inserm
2015-2025
Université Paris-Saclay
2015-2025
Cancer Genetics (United States)
2012-2021
Assistance Publique – Hôpitaux de Paris
2005-2021
Laboratoire d'études sur les monothéismes
2004-2021
Bicêtre Hospital
2021
Université Paris-Sud
2009-2018
École Pratique des Hautes Études
2018
University of Bergen
2017
Mutations in the p53 gene have been associated with a wide range of human tumors, including osteosarcomas. Although it has shown that wild-type can block ability E1a and ras to cotransform primary rodent cells, is poorly understood why inactivation important for tumor formation. We show overexpression encoding blocks growth osteosarcoma cells. The arrest was determined be due an inability transfected cells progress into S phase. This suggests role as antioncogene may controlling cell cycle...
To assess the yield and clinical value of systematic screening susceptibility genes for patients with pheochromocytoma (pheo) or functional paraganglioma (pgl).We studied 314 a pheo pgl, including 56 having family history and/or syndromic presentation 258 an apparently sporadic presentation. Clinical data blood samples were collected, all five major pheo-pgl (RET, VHL, SDHB, SDHD, SDHC) screened. Neurofibromatosis type 1 was diagnosed from phenotypic criteria.We have identified 86 (27.4%)...
The aim of the study was to update description Li-Fraumeni syndrome (LFS), a remarkable cancer predisposition characterized by extensive clinical heterogeneity.From 1,730 French patients suggestive LFS, we identified 415 mutation carriers in 214 families harboring 133 distinct TP53 alterations and updated their presentation.The 322 affected developed 552 tumors, 43% had multiple malignancies. mean age first tumor onset 24.9 years, 41% having 18. In childhood, LFS spectrum osteosarcomas,...
There is little information regarding the molecular mechanisms of hepatocarcinogenesis. We studied p53 gene at DNA, RNA, and protein level in seven human hepatocellular carcinoma (HCC)-derived cell lines; six showed abnormalities. By Southern blotting, was found to be partially deleted Hep 3B rearranged SK-HEP-1 cells. Transcripts were undetectable as well FOCUS cells that had no apparent deletion or rearrangement gene. Immunoprecipitation after [35S]methionine labeling HCC demonstrated...
Abstract GenoMEL, comprising major familial melanoma research groups from North America, Europe, Asia, and Australia has created the largest sample yet available to characterize mutations in high-risk susceptibility genes CDKN2A/alternate reading frames (ARF), which encodes p16 p14ARF, CDK4 evaluate their relationship with pancreatic cancer (PC), neural system tumors (NST), uveal (UM). This study included 466 families (2,137 patients) at least three patients 17 GenoMEL centers. Overall, 41%...
Melanoma cells can enter the process of senescence, but whether they express a secretory phenotype, as reported for other cells, is undetermined. This paramount importance, because this secretome alter tumor microenvironment and response to chemotherapeutic drugs. More generally, molecular events involved in formation senescent-associated have yet be determined. We reveal here that melanoma experiencing senescence diverse stimuli, including anti-melanoma drugs, produce an inflammatory...
Assessing the impact of variants unknown significance (VUS) on splicing is a key issue in molecular diagnosis. This can be predicted by silico tools, but proper evaluation and user guidelines are lacking. To fill this gap, we embarked upon largest BRCA1 BRCA2 splice study to date testing 272 VUSs (327 analyses) within BRCA network Unicancer. All these were analyzed using six tools (splice site prediction neural network, finder (SSF), MaxEntScan (MES), ESE finder, relative enhancer silencer...
Bone sarcomas, constituting less than 1% of malignant neoplasms across all age groups, are rare tumours possibly associated with genetic susceptibility syndromes. This review aims to provide recommendations for the detection cancer predisposition syndromes bone sarcomas and managing affected patients. Recommendations were formulated by a multidisciplinary working reviewing group from GROUPOS SFCE oncogenetic's group, including geneticists, oncologists, radiologists. For various...
The family history of cancer in children treated for a solid malignant tumour the Paediatric Oncology Department at Institute Gustave-Roussy, has been investigated. In order to determine role germline p53 mutations genetic predisposition childhood cancer, were sought individuals with least one relative (first- or second-degree first cousin) affected by any before 46 years age, multiple cancers. Screening mutation was possible 268 index cases among fulfilling selection criteria. Seventeen...
Mutations in the p53 gene have been associated with a wide range of human tumors, including osteosarcomas. Although it has shown that wild-type can block ability E1a and ras to cotransform primary rodent cells, is poorly understood why inactivation important for tumor formation. We show overexpression encoding blocks growth osteosarcoma cells. The arrest was determined be due an inability transfected cells progress into S phase. This suggests role as antioncogene may controlling cell cycle...