Martine Dumont
A5058111076- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Genomics and Chromatin Dynamics
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Estrogen and related hormone effects
- Body Composition Measurement Techniques
- Hormonal Regulation and Hypertension
- DNA Repair Mechanisms
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Molecular Biology Techniques and Applications
- Heart Rate Variability and Autonomic Control
- Epigenetics and DNA Methylation
- Bioinformatics and Genomic Networks
- Hormonal and reproductive studies
- Cancer Risks and Factors
- RNA modifications and cancer
- Bone health and osteoporosis research
- Genetics, Bioinformatics, and Biomedical Research
- Aldose Reductase and Taurine
- Metabolism, Diabetes, and Cancer
- Nutrition and Health in Aging
- Drug Transport and Resistance Mechanisms
Radboud University Nijmegen
2025
Radboud University Medical Center
2025
Université Laval
2015-2024
Centre hospitalier universitaire de Québec
2013-2023
Wilfrid Laurier University
1990-2022
Monash Health
2019
Monash University
2019
University Hospital Heidelberg
2015
University Medical Center Hamburg-Eppendorf
2015
University of Copenhagen
2015
Stratification of women according to their risk breast cancer based on polygenic scores (PRSs) could improve screening and prevention strategies. Our aim was develop PRSs, optimized for prediction estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset empirically validate PRSs in prospective studies. The development comprised 94,075 case subjects 75,017 control European ancestry 69 studies, divided into training validation sets. Samples were...
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 the risk of female cancer rs1314913 male cancer. The aim this study was investigate role RAD51B variants in predisposition, particularly context familial Finland. We sequenced coding region 168 Finnish patients from Helsinki for identification possible recurrent founder mutations. In addition, we studied known rs999737, rs2588809, SNPs haplotypes 44,791 cases 43,583 controls 40...
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)....
Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased postmenopausal women. It unclear whether this association mediated through shared genetic or environmental factors.
Abstract Three beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta-HSD) catalyze the oxidative conversion of delta 5-3 beta-hydroxysteroids to 4-3-keto configuration and is therefore essential for biosynthesis all classes hormonal steroids, namely progesterone, glucocorticoids, mineralocorticoids, androgens, estrogens. Using human 3 beta-HSD cDNA as probe, a gene was isolated from lambda-EMBL3 library leucocyte genomic DNA. A fragment DNA also obtained by amplification using...
We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with risks BRCA1 and BRCA2 pathogenic variant carriers. Retrospective cohort data on 18,935 12,339 female carriers of European ancestry were available. Three versions a 313 single-nucleotide polymorphism (SNP) BC PRS evaluated based whether they predict overall, estrogen receptor (ER)-negative, ER-positive BC, two overall high-grade serous EOC. Associations...
Abstract Common variants in 94 loci have been associated with breast cancer including 15 genome-wide significant associations ( P <5 × 10 −8 ) oestrogen receptor (ER)-negative and BRCA1 -associated risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 association studies (GWAS) consisting 4,939 cases 14,352 controls, combined 7,333 42,468 controls 15,252 mutation carriers genotyped on the iCOGS array. We four previously unidentified two...
Abstract Background In addition to the established association between general obesity and breast cancer risk, central circulating fasting insulin glucose have been linked development of this common malignancy. Findings from previous studies, however, inconsistent, nature associations is unclear. Methods We conducted Mendelian randomization analyses evaluate using genetic instruments, with insulin, glucose, 2-h body mass index (BMI) BMI-adjusted waist-hip-ratio (WHRadj BMI). first confirmed...
In patients with chronic intestinal failure, the content and type of parenteral nutrition are individually determined based on various factors, including body composition. clinical practice, bioelectrical impedance analysis is used to assess composition using standardized protocols. However, these protocols lack specific recommendations for receiving nutrition. Therefore, this study described effect infusion fat-free mass as evaluated by single-frequency analysis. We performed a descriptive...
While classical 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase deficiency (3β-HSD) is a known cause of adrenal hyperplasia resulting in ambiguous genitalia and insufficiency at birth, nonclassical or late-onset 3β-HSD found an important proportion women with androgen excess. We have previously isolated sequenced the cDNA gene for human type I 3β-HSD, which represents main species expressed placenta skin. Recently, we isolated, sequenced, functional encoding II predominant adrenals gonads....
Much clinical evidence indicates that androgens have beneficial effects in the treatment of breast cancer women. Physiological concentrations strongly inhibit both basal and estrogen-induced cell proliferation human line ZR-75-1 through their interaction with androgen receptor. The present study shows suppress estrogen receptor (ER) progesterone contents this model, as measured by radioligand binding anti-ER monoclonal antibodies. Similar inhibitory are observed on levels ER messenger RNA...
Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most underpowered to detect associations of a realistic magnitude. We assessed 41 non-synonymous single-nucleotide polymorphisms (nsSNPs) for which evidence with risk had previously reported. Case-control data were combined from 38 white European women (46 450 cases and 42 600 controls) analyzed using unconditional logistic regression. Strong was observed...
Background and objective: In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies mutation screening programmes are critically important. These depend on the spectrum found in population under consideration frequency of mutations detected as a function personal family history cancer, which both affected by presence founder demographic characteristics underlying population. The results multistep BRCA1 or...
Abstract Calbindin is a fast Ca 2+ ‐binding protein expressed by Purkinje cells and involved in their firing regulation. Its deletion produced ∼160‐Hz oscillation sustained synchronous, rhythmic the cerebellar cortex of mice. Parvalbumin slow‐onset interneurons. In order to assess its function cell regulation, we studied behavior alert mice lacking parvalbumin (PV –/– ), calbindin (CB ) or both CB wild‐type controls. The absence either resulted alterations (decreased complex spike duration...