Sylvie Mazoyer
A5001562478- BRCA gene mutations in cancer
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- Genetic Associations and Epidemiology
- DNA Repair Mechanisms
- RNA modifications and cancer
- RNA Research and Splicing
- Genetics, Bioinformatics, and Biomedical Research
- RNA and protein synthesis mechanisms
- Ovarian cancer diagnosis and treatment
- Genomics and Chromatin Dynamics
- Ubiquitin and proteasome pathways
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- MicroRNA in disease regulation
- Animal Genetics and Reproduction
- Circular RNAs in diseases
- Cancer-related Molecular Pathways
- Gene expression and cancer classification
- Protein Tyrosine Phosphatases
- Molecular Biology Techniques and Applications
- Genomics and Rare Diseases
- Protease and Inhibitor Mechanisms
- Chromosomal and Genetic Variations
Inserm
2015-2024
Université Claude Bernard Lyon 1
2015-2024
Centre National de la Recherche Scientifique
2015-2024
Centre de Recherche en Neurosciences de Lyon
2016-2024
Centre Léon Bérard
1995-2021
Hospices Civils de Lyon
2012-2021
Centre Hospitalier Le Vinatier
2021
Centre de Recherche en Cancérologie de Lyon
2011-2017
Wellcome Sanger Institute
2017
University of Cambridge
1994-2016
Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.
Research Article5 April 2011Open Access Down-regulation of BRCA1 expression by miR-146a and miR-146b-5p in triple negative sporadic breast cancers Amandine I. Garcia CNRS UMR5286 Inserm U1052, "Equipe Labellisée LIGUE 2008", University Lyon 1, Cancer Center Lyon, Centre Léon Bérard, France Search for more papers this author Monique Buisson Pascale Bertrand CNRS-CEA UMR 217, Institut de Radiobiologie Cellulaire et Moléculaire, Fontenay-aux-Roses, Ruth Rimokh Etienne Rouleau Laboratoire...
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 BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify risks for female carriers mutations. We investigated—for first time to our knowledge—associations common with male BRCA1/ 2 implications prediction. Materials Methods genotyped 1,802 from Consortium Investigators Modifiers by using custom Illumina OncoArray. investigated combined effects established susceptibility on constructing weighted polygenic scores (PRSs) published effect...
The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for mutation carriers, we undertook a two-staged genome-wide association study in carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (<40 years) affected and 804 unaffected carriers European ancestry. Associations evaluated survival-based...
Abstract Introduction Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these different subtypes in and carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. Methods We used genotype data on up to 11,421 7,080 carriers, whom 4,310 had been affected information either ER PR tumour, assess associations 12 loci tumour...
Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify modifying loci carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using ranked P-values associations with imputed genotype 1.4 M SNPs, 19,029 SNPs were selected and designed inclusion on custom Illumina array that included...
Abstract Variant interpretation is the key issue in molecular diagnosis. Spliceogenic variants exemplify this as each nucleotide variant can be deleterious via disruption or creation of splice site consensus sequences. Consequently, reliable silico prediction spliceogenicity would a major improvement. Thanks to an international effort, set 395 studied at mRNA level and occurring 5′ 3′ regions (defined 11 14 bases surrounding exon/intron junction, respectively) was collected for different...
The Nonsense-Mediated mRNA Decay (NMD) pathway detects and degrades mRNAs containing premature termination codons, thereby preventing the accumulation of potentially detrimental truncated proteins. Intertissue variation in efficiency this mechanism has been suggested, which could have important implications for understanding genotype-phenotype correlations various genetic disorders. However, compelling evidence favour hypothesis is lacking. Here, we explored question by measuring ratio...
The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was beginning a sustained effort to uncover new explaining missing heritability this disease. Today, additional high, moderate low penetrance have been identified such as P53, PTEN, STK11, PALB2 or ATM, globally accounting for around 35 percent familial cases. In present study we used massively parallel sequencing analyze 7 BRCA1/BRCA2 negative families, each having at least 6 affected women...
Abstract Introduction Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of identified eight additional susceptibility loci: rs1011970 (9p21, CDKN2A/B) , rs10995190 ( ZNF365) rs704010 ZMIZ1 ), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) rs865686 (9q31.2). Methods To evaluate whether these single nucleotide polymorphisms (SNPs) are...
Background: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear what extent linkage disequilibrium fully pathogenic mutations might account for this association. There scant information about the effect other hormone-related cancers. Using weighted logistic regression, we analyzed data from large iCOGS study including 76 637 cancer case patients and 83 796 control estimate...
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...