A5066849414- BRCA gene mutations in cancer
- Polyomavirus and related diseases
- CRISPR and Genetic Engineering
- Virus-based gene therapy research
- DNA Repair Mechanisms
- Cancer-related Molecular Pathways
- Plant Virus Research Studies
- Bacteriophages and microbial interactions
- RNA modifications and cancer
- Genetics, Bioinformatics, and Biomedical Research
- RNA and protein synthesis mechanisms
- Animal Virus Infections Studies
- Cancer, Hypoxia, and Metabolism
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Bioinformatics and Genomic Networks
- Cancer Research and Treatments
- Animal Genetics and Reproduction
- Nutrition, Genetics, and Disease
- Thyroid Cancer Diagnosis and Treatment
- Ovarian cancer diagnosis and treatment
- Genomics and Rare Diseases
- Glycosylation and Glycoproteins Research
- Genomics and Chromatin Dynamics
Institut Gustave Roussy
2008-2023
Inserm
1988-2023
Université Paris-Saclay
2007-2022
Centre National de la Recherche Scientifique
2003-2018
Stabilité génétique et oncogenèse
2011-2017
Université Paris-Sud
2014-2016
Dana-Farber Cancer Institute
2007
Laboratoire d'études sur les monothéismes
1996-2005
Max Planck Research Unit for Enzymology of Protein Folding
2004
Centre National pour la Recherche Scientifique et Technique (CNRST)
2004
A small proportion of breast cancer, in particular those cases arising at a young age, is due to the inheritance dominant susceptibility genes conferring high risk disease. genomic linkage search was performed with 15 high-risk cancer families that were unlinked BRCA1 locus on chromosome 17q21. This analysis localized second locus, BRCA2 , 6-centimorgan interval 13q12-13. Preliminary evidence suggests confers but, unlike does not confer substantially elevated ovarian cancer.
BRCA1 immunostaining reveals discrete, nuclear foci during S phase of the cell cycle. Human Rad51, a homolog bacterial RecA, behaves similarly. The two proteins were found to colocalize in vivo and coimmunoprecipitate. residues 758-1064 alone formed Rad51-containing complexes vitro. Rad51 is also specifically associated with developing synaptonemal meiotic cells, both detected on asynapsed (axial) elements human complexes. These findings suggest functional interaction between mitotic cycles,...
Prolyl hydroxylase domain (PHD) proteins play a major role in regulating the hypoxia-inducible factor (HIF) that induces expression of genes involved angiogenesis, erythropoiesis, and cell metabolism, proliferation, survival. Germ-line mutations prolyl 2 gene (PHD2) have been reported patients with familial erythrocytosis but not association tumors. We describe patient recurrent paraganglioma who carries newly discovered PHD2 mutation. This mutation affects function stabilizes HIF-alpha...
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...
Abstract BRCA1 —a breast and ovarian cancer suppressor gene—promotes genome integrity. To study the functionality of in heterozygous state, we established a collection primary human +/+ mut/+ mammary epithelial cells fibroblasts. Here report that all exhibited multiple normal functions, including support homologous recombination- type double-strand break repair (HR-DSBR), checkpoint centrosome number control, spindle pole formation, Slug expression satellite RNA suppression. In contrast,...
Polyoma virus mutants of four functionally distinct groups have been mapped by the marker rescue technique using restriction enzyme fragments wild-type viral DNA. Nontransforming host-range map in proximal part early region genome. The same DNA fragment that restores a normal host range also transforming ability to these mutants. ts-25D, temperature-sensitive (ts)-a class mutant, maps distal region. ts-3 and ts-1260 parts late region, respectively.
Abstract Breast tumors with a germ-line mutation of BRCA1 (BRCA1 tumors) and basal-like carcinoma (BLC) are associated high rate TP53 mutation. Because frequently display phenotype, this study was designed to determine whether mutations correlated the hereditary mutated status or particular phenotype these tumors. The gene first investigated in series 35 BLCs using immunohistochemistry, direct sequencing coding sequence, functional analysis separated alleles yeast, compared 38 sporadic...
<h3>Background</h3> Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous uterine leiomyomas; in 20% of affected families, type 2 papillary cancers (PRCCII) also occur with aggressive course poor prognosis. HLRCC results from heterozygous germline mutations the tumour suppressor fumarate hydratase (<i>FH</i>) gene. <h3>Methods</h3> As part French National Cancer Institute (INCa) 'Inherited predispositions kidney cancer'...
Paris-Trousseau syndrome (PTS; also known as Jacobsen syndrome) is characterized by several congenital anomalies including a dysmegakaryopoiesis with two morphologically distinct populations of megakaryocytes (MKs). PTS patients harbor deletions on the long arm chromosome 11, FLI1 gene, which encodes transcription factor essential for megakaryopoiesis. We show here that lentivirus-mediated overexpression in patient CD34(+) cells restores megakaryopoiesis vitro, indicating hemizygous deletion...
Multiple endocrine neoplasia type 2 (MEN 2) is a dominantly inherited cancer syndrome that comprises three clinical subtypes: MEN 2A (MEN-2A), 2B (MEN-2B), and familial medullary thyroid carcinoma (FMTC). Medullary (MTC), malignant tumor arising from calcitonin-secreting C cells, the cardinal disease feature of this syndrome, mortality in affected MEN-2 patients mainly caused by malignancy. Germ-line mutations RET protooncogene, which encodes receptor tyrosine kinase, are responsible for...
We have recently demonstrated that heterochromatin HP1 proteins are aberrantly distributed in lymphocytes of patients with immunodeficiency, centromeric instability and facial dysmorphy (ICF) syndrome. The three accumulate one giant body over the 1qh 16qh juxtacentromeric heterochromatins, which hypomethylated ICF. presence PML (promyelocytic leukaemia) protein within this suggests it to be a nuclear (PML-NB). structural integrity PML-NBs is major importance for normal cell functioning....