Marie‐Gabrielle Dondon
A5014242510- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- Vascular Malformations and Hemangiomas
- Nutrition, Genetics, and Disease
- Folate and B Vitamins Research
- Genomic variations and chromosomal abnormalities
- Nonmelanoma Skin Cancer Studies
- Global Cancer Incidence and Screening
- Vascular Tumors and Angiosarcomas
- Genomics and Chromatin Dynamics
- Ocular Oncology and Treatments
- Cancer, Stress, Anesthesia, and Immune Response
- Genetic Mapping and Diversity in Plants and Animals
- Genomics and Rare Diseases
- Tumors and Oncological Cases
- Bioinformatics and Genomic Networks
- Data Quality and Management
- Radiation Dose and Imaging
- Childhood Cancer Survivors' Quality of Life
- Carcinogens and Genotoxicity Assessment
- Glioma Diagnosis and Treatment
- Cancer and Skin Lesions
Inserm
2013-2025
Institut Curie
2013-2025
École Nationale Supérieure des Mines de Paris
2013-2025
Université Paris Sciences et Lettres
2016-2025
Cancer et génome: Bioinformatique, biostatistiques et épidémiologie des systèmes complexes
2008-2021
Génomique Bioinformatique et Applications
2021
ParisTech
2011
Statistical Service
2006
Institut Gustave Roussy
2001-2005
The late health effects associated with radioiodine (131I) given as treatment for thyroid cancer are difficult to assess since the number of patients treated at each centre is limited. risk second primary malignancies (SPMs) was evaluated in a European cohort patients. A common database obtained by pooling 2-year survivors three major Swedish, Italian, and French cohorts papillary follicular time-dependent analysis using external comparison performed. study concerned 6841 patients, diagnosed...
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...
Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial remain unexplained. To determine whether some missing heritability is due to rare variants conferring high moderate risk, we tested for an association between c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 FANCM gene and cancer. An analysis genotyping data from 8635 cases 6625 controls different countries yielded [odds ratio (OR) = 3.93 (95%...
Pathogenic variants in BRCA1 and BRCA2 only explain the underlying genetic cause of about 10% hereditary breast ovarian cancer families. Because cost‐effectiveness, multigene panel testing is often performed even if clinical utility most genes remains questionable. The purpose our study was to assess contribution rare, deleterious‐predicted DNA repair familial (BC) a well‐characterized homogeneous population. We analyzed 113 selected from either an exome sequencing or candidate gene approach...
Abstract The aim of our study was to quantify the risk second malignant neoplasms (SMNs) among long‐term survivors neuroblastoma and influence treatment on this risk. We studied data from 544 5‐year survival patients diagnosed with before age 16 years at 8 French British centres 1948 1986. After an average follow‐up 15 (range, 5–38 years), 12 children developed a total 13 SMNs, whereas 1.19 were expected general population rates. Among these there 5 thyroid 3 breast cancers. Increases risks...
Abstract Soft tissue sarcoma (STS) is one of the most frequent second primary cancer that occurs during first 20 years following treatment for a solid in childhood. Our aim was to quantify risk STS as malignant neoplasm and investigate its relationship with radiotherapy chemotherapy. A cohort study 4,400 3‐year survivors diagnosed childhood France or United Kingdom, between 1942 1985, followed 15 on average. In partially nested case‐control study, we matched 25 cases 121 controls sex, type...
The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary and ovarian (HBOC) families who undergo genetic testing. So far, no clear histopathological molecular features tumours occurring ATM deleterious variant carriers have been described, but identification an ATM-associated tumour signature may help patient management. To characterise hallmarks tumours, we performed systematic...
The ataxia-telangiectasia mutated (ATM) kinase phosphorylates and activates several downstream targets that are essential for DNA damage repair, cell cycle inhibition apoptosis. Germline biallelic inactivation of the ATM gene causes (A-T), heterozygous pathogenic variant (PV) carriers at increased risk cancer, notably breast cancer. This study aimed to investigate whether methylation profiling can be useful as a biomarker identify tumors arising in PV carriers, which may help management...
Women with a familial predisposition to breast cancer (BC) are offered screening at earlier ages and more frequently than women from the general population. We evaluated effect of mammography in 1552 BC cases hereditary unexplained by BRCA1 or BRCA2 1363 unrelated controls. Participants reported their lifetime exposures detailed questionnaire. Germline rare deleterious predicted variants (D-PDVs) 113 DNA repair genes were investigated 82.5% classified according strength association BC. Genes...
Abstract Radiotherapy and chemotherapy are associated with an increased risk of a second malignant neoplasm (SMN) after cancer during childhood. This study specified the dose‐effect relationship between radiotherapy, SMN, investigated effect chemo‐radiotherapy on SMN. A case–control nested in European cohort 4,581 patients treated for solid childhood was conducted. One hundred fifty three cases SMN 442 controls were matched according to sex, age at first cancer, calendar year, type...
Less than 20 % of familial breast cancer patients who undergo genetic testing for BRCA1 and BRCA2 carry a pathogenic mutation in one these two genes. The GENESIS (GENE SISter) study was designed to identify new susceptibility genes women attending genetics clinics with no BRCA1/2 mutation. involved the French national network family clinics. It based on enrichment factors recruited population through case selection relying criteria, but also consideration environmental endophenotypes like...
Recent studies have linked constitutive telomere length (TL) to aging-related diseases including cancer at different sites. ATM participates in the signaling of erosion, and inherited mutations been associated with increased risk cancer, particularly breast cancer. The goal this study was investigate whether carriage an mutation TL interplay modify ataxia-telangiectasia (A-T) families.The population consisted 284 heterozygous carriers (HetAT) 174 non-carriers (non-HetAT) from 103 A-T...
Cleft lip with or without cleft palate (CL/P) is one of the most common congenital malformations in humans occurring a birth prevalence ∼1:1,000. CL/P may be part defined syndrome, sequence association, although individual familial cases present as an isolated (nonsyndromic) malformation (NSCL/P). Inheritance generally regarded multigenic although, some families, NSCL/P seemingly segregates monogenic trait. On other hand, van der Woude syndrome (vWS) rare autosomal dominant cardinal features...
The relationship between the use of anti-hypertensive drugs and cancer risk remains controversial.The main objective this study was to assess effects beta-blocker on risk. Methods:In a cohort 839 patients with cardiovascular disease, followed up prospectively for mean 10years, we compared in subjects who had not received beta-blockers. We estimated therelative associated Cox model adjusted sex age. ofbeta-blockers duration exposure drug were analyzed as time-dependent variables....
Breast Cancer is a complex multifactorial disease for which high-penetrance mutations have been identified. Approaches used to date identified genomic features explaining about 50% of breast cancer heritability. A number low- medium penetrance alleles (per-allele odds ratio < 1.5 and 4.0, respectively) identified, suggesting that the remaining heritability likely be explained by cumulative effect such and/or rare alleles. Relatively few studies specifically explored mitochondrial genome...
We performed a geographical analysis of cancer mortality in the communes surrounding an industrial mining complex (Salsigne, France) where suspicious levels pollution due to arsenic were measured. Compared with that observed control area, we showed significant excess all types (ratio standard ratios SMRs)=1.1), lung SMRs=1.8), pharynx SMRs=2.1) whole population, and digestive system SMRs=1.3) among women. The results similar after controlling for occupation distribution populations....
The aim of this study was to determine therapy-related risk factors for the development melanoma after hemangioma. A cohort conducted among 4620 patients treated before 16 years age skin hemangioma in France. nested case–control also on 13 who developed a (cases) matched with five controls according sex, at diagnostic, calendar year occurrence hemangioma, and follow-up. radiation dose received site same estimated, named 'local dose'. total melanomas were registered during an average...
Abstract Background Linking independent sources of data describing the same individuals enable innovative epidemiological and health studies but require a robust record linkage approach. We describe hybrid process to link databases from two ongoing French national studies, GEMO (Genetic Modifiers BRCA1 BRCA2 ), which focuses on identification genetic factors modifying cancer risk mutation carriers, GENEPSO (prospective cohort BRCAx carriers), environmental lifestyle factors. Methods To...