Dominique Stoppa‐Lyonnet
A5077661191- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- CRISPR and Genetic Engineering
- Cancer-related Molecular Pathways
- Genetic Associations and Epidemiology
- Gene expression and cancer classification
- Genetics, Bioinformatics, and Biomedical Research
- Ovarian cancer diagnosis and treatment
- Genomics and Rare Diseases
- Ocular Oncology and Treatments
- Bioinformatics and Genomic Networks
- RNA and protein synthesis mechanisms
- Prenatal Screening and Diagnostics
- Carcinogens and Genotoxicity Assessment
- Molecular Biology Techniques and Applications
- RNA modifications and cancer
- Global Cancer Incidence and Screening
- Cancer Risks and Factors
- PARP inhibition in cancer therapy
- Family Support in Illness
- Ubiquitin and proteasome pathways
Institut Curie
2016-2025
Université Paris Cité
2016-2025
Inserm
2016-2025
Sorbonne Paris Cité
2013-2024
Délégation Paris 5
2014-2023
Université Paris Sciences et Lettres
2017-2023
Service de la Santé Publique
2023
La Ligue Contre le Cancer
1999-2022
Centre Jean Perrin
2022
Descartes (Belgium)
2012-2020
We have previously shown correction of X-linked severe combined immunodeficiency [SCID-X1, also known as gamma chain (gamma(c)) deficiency] in 9 out 10 patients by retrovirus-mediated gamma(c) gene transfer into autologous CD34 bone marrow cells. However, almost 3 years after therapy, uncontrolled exponential clonal proliferation mature T cells (with gammadelta+ or alphabeta+ cell receptors) has occurred the two youngest patients. Both patients' clones showed retrovirus vector integration...
SummaryThe contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage mutation analysis in 237 families, each with at least four cases cancer, collected the Breast Cancer Linkage Consortium. Families were included without regard occurrence ovarian or other cancers. Overall, disease linked an estimated 52% 32% neither gene 16% (95% confidence interval [CI] 6%–28%), suggesting predisposition genes. The majority (81%) breast-ovarian families due BRCA1, most others (14%)...
<h3>Importance</h3> The clinical management of<i>BRCA1</i>and<i>BRCA2</i>mutation carriers requires accurate, prospective cancer risk estimates. <h3>Objectives</h3> To estimate age-specific risks of breast, ovarian, and contralateral breast for mutation to evaluate modification by family history location. <h3>Design, Setting, Participants</h3> Prospective cohort study 6036<i>BRCA1</i>and 3820<i>BRCA2</i>female (5046 unaffected 4810 with or ovarian both at baseline) recruited in 1997-2011...
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,...
Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 2,568 to analyze the pathology invasive breast, ovarian, contralateral cancers. Results: There was strong evidence proportion estrogen receptor (ER)-negative decreased with age at diagnosis among (P-trend = 1.2 × 10−5), but increased BRCA2, 6.8 10−6)....
Abstract BRCA1 inactivation is a frequent event in basal-like breast carcinomas (BLC). However, can be inactivated by multiple mechanisms and determining its status not trivial issue. As an alternate approach, we profiled 65 BLC cases using single-nucleotide polymorphism arrays to define signature of BRCA1-associated genomic instability. Large-scale state transitions (LST), defined as chromosomal break between adjacent regions at least 10 Mb, were found robust indicator this setting. Two...
The Drosophila (fruit fly) model system has been instrumental in our current understanding of human biology, development, and diseases. Here, we used a high-throughput yeast two-hybrid (Y2H)-based technology to screen 102 bait proteins from melanogaster , most them orthologous cancer-related and/or signaling proteins, against high-complexity fly cDNA libraries. More than 2300 protein-protein interactions (PPI) were identified, which 710 are high confidence. computation reliability score for...
As genetic testing for predisposition to human diseases has become an increasingly common practice in medicine, the need clear interpretation of test results is apparent. However, many disease genes, including breast cancer susceptibility genes BRCA1 and BRCA2, a significant fraction tests detection variant which association not known. The finding "unclassified" (UV)/variant uncertain significance (VUS) complicates reporting counseling. these variants are individually rare, large...
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...
Purpose Biallelic mutations in ATM cause ataxia-telangiectasia (AT), a rare inherited disease with high incidence of cancer. Precise estimates the risk, presentation, and outcomes cancer patients AT need to be addressed large series. Patients Methods In this retrospective cohort, 69 cancers (24.5%) were identified among 279 AT. Centralized review was performed on 60% lymphomas. Incidence rates compared French population, risk factors analyzed. Results Eight developed acute leukemias...
To provide precise age-specific risk estimates of cancers other than female breast and ovarian associated with pathogenic variants (PVs) in
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 BRCA2 data support highly collaborative research activities. Its goal generate an informed current understanding of impact genetic variation on cancer risk across iconic predisposition genes, BRCA2. Initially, reported variants in available from public databases were integrated into single, newly created site, www.brcaexchange.org. purpose Exchange...
Denaturing high-performance liquid chromatography (DHPLC) is a recently developed method of comparative sequencing based upon heteroduplex detection. To assess the reliability this method, 180 different mutations (54 deletions, 12 insertions, and 117 single base substitutions) in BRCA1 BRCA2 were tested. Second, 25 index individuals with complete DHPLC analysis reanalyzed by dye-terminator sequencing. Third, 41 analyzed concomitantly both DGGE DHPLC. Of mutations, 179 showed heterozygous...