Pour des apprentissages de l’oral qui traversent le temps : l’oral pragmatique, une approche didactique à utiliser !

Cet article fait état du renouvellement des pratiques de deux enseignantes du primaire lors d’une recherche-action. Utilisant principalement l’exposé oral pour enseigner et pour évaluer les élèves, les participantes de notre recherche ont transformé leurs pratiques en s’intéressant à l’oral pragmatique, une approche didactique qui consiste à développer les capacités des élèves à communiquer oralement tout en les sensibilisant aux enjeux d’une communication harmonieuse. Les résultats présentés font état, dans un premier temps de la réflexion des participantes les menant vers le choix de l’objet à enseigner. Ensuite, la planification, l’enseignement et l’activité de mise en pratique de l’objet de l’oral choisi sont explicités

Quelles sont les pratiques déclarées d’enseignants du primaire utilisant une approche intégrée du français ?

L’enseignement du français repose sur l’enseignement de nombreuses composantes (lecture, écriture, oral, grammaire,littérature, etc.) et ces dernières peuvent être complexes à orchestrer. Chacune d’entre elles comporte des savoirs qui lui sont propreset qui sont habituellement traités de manière autonome (Simard et al., 2019). Or, des recherches montrent qu’il est bénéfique d’opterpour une approche intégrée et d’articuler les différentes compétences entre elles (Graham, 2020). Il n’en demeure pas moins quel’utilisation d’une approche intégrée du français en classe a été peu documentée (Morin et al., 2007). Cet article porte sur une rechercheexploratoire visant à décrire les pratiques déclarées obtenues à partir d’un questionnaire et d’un entretien semi-dirigé mené auprès de20 enseignantes du primaire au Québec utilisant cette approche

Vers une définition de l’approche intégrée du français

Préconiser une approche intégrée du français est souhaitée depuis de nombreuses années. Un grand nombre d’études ont démontré des liens existants entre les différentes compétences langagières. Articulées les unes aux autres, elles s’enrichissent mutuellement. Mais que savons-nous exactement de cette approche ? Peu d’écrits tentent de la définir réellement. Cet article met en relation différentes caractéristiques de l’approche intégrée du français afin d’en proposer une définition opérationnelle. Abstract Advocating an integrated approach of French has been desired for many years. A large number of studies have shown connections between the different language skills. In relation they enrich each other. But what exactly do we know about this approach? Few writings attempt to really define it. This article relates different characteristics of the integrated approach of French in order to propose an operational definition

Quand la recherche-action au doctorat devient possible place à l’artisan-chercheur

Le cheminement prévu pour le doctorat réseau amène certaines contraintes à l’étudiant-chercheur qui souhaiterait opter pour une recherche participative, notamment la recherche-action. Cet article fait état de la réflexion amorcée lors de mon cheminement doctoral concernant la méthodologie et m’ayant mené vers la création d’un modèle hybride. Ce modèle hybride s’inspire en partie du « proactive model research » proposé par Schmuck (2006) ainsi que du modèle proposé par Guay et Prud’homme (2011)

Lorsque changer ses pratiques en enseignement de l’oral remet en question sa façon d’évaluer : portrait de deux enseignantes du primaire

Français Au cours d’une recherche-action menée avec deux enseignantes québécoises de 2e année du primaire (élèves de 7-8 ans) pendant une année, les pratiques d’évaluation de l’oral de ces dernières ont été bousculées. En effet, en changeant leurs pratiques d’enseignement de l’oral, ces enseignantes ont été amenées à réfléchir à leurs pratiques d’évaluation. Au départ, tout comme de nombreux enseignants, les participantes de notre recherche utilisaient principalement l’exposé oral pour l’enseignement-apprentissage, mais surtout pour évaluer la compétence à communiquer oralement de leurs élèves. Désireuses de transformer leurs pratiques en enseignement de l’oral, les participantes ont créé et mis en pratique un centre de l’oral en l’ajoutant aux centres de littératie (dispositif d’enseignement-apprentissage) déjà existants dans leur classe. Les participantes ont souhaité que l’oral soit enseigné dans un premier temps et ensuite mis en pratique par leurs élèves, au même titre que la lecture et l’écriture. Ce changement de pratiques en enseignement de l’oral a donné lieu à de grands questionnements quant à leur façon d’évaluer l’oral. Cet article fait état de résultats de recherche concernant les changements de pratiques en enseignement de l’oral de deux enseignantes et de leur réflexion quant à l’évaluation de l’oral. Pour permettre l’analyse des données, une triangulation méthodologique a été effectuée (questionnaire, entrevue semi-dirigée et compte rendu in extenso des rencontres) à l’aide d’une analyse par thématisation en continu. Anglais During an action-research study carried out with two Quebec teachers in the 2nd year of elementary school (students aged 7-8) for a year, the oral assessment practices were questioned. Indeed, by changing their oral teaching practices, these teachers have been led to think about their assessment practices. Initially, like many teachers, the participants in our research mainly used the oral presentation for teaching-learning but above all to assess the oral communication skills of their students. To transform their oral teaching practices, the participants created and put into practice an oral center by adding it to the literacy centers already existing in their class. The participants wanted the oral to be taught and put into practice by their students, as well as reading and writing. This change in oral teaching practices has given rise to major questions about their way of assessing. This article will report on research results concerning changes in oral teaching practices and their reflection on oral assessment. To allow data analysis, a methodological triangulation was carried out (survey, semi-structured interview and verbatim reports of meetings) using an analysis by a continuous theming process

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Methods: We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]-positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association of each PRS with BC or OC risk was evaluated using a weighted cohort approach, with time to diagnosis as the outcome and estimation of the hazard ratios (HRs) per standard deviation increase in the PRS. Results: The PRS for ER-negative BC displayed the strongest association with BC risk in BRCA1 carriers (HR = 1.27, 95% confidence interval [CI] = 1.23 to 1.31, P = 8.2 x 10(53)). In BRCA2 carriers, the strongest association with BC risk was seen for the overall BC PRS (HR = 1.22, 95% CI = 1.17 to 1.28, P = 7.2 x 10(-20)). The OC PRS was strongly associated with OC risk for both BRCA1 and BRCA2 carriers. These translate to differences in absolute risks (more than 10% in each case) between the top and bottom deciles of the PRS distribution; for example, the OC risk was 6% by age 80 years for BRCA2 carriers at the 10th percentile of the OC PRS compared with 19% risk for those at the 90th percentile of PRS. Conclusions: BC and OC PRS are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Purpose We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks forBRCA1andBRCA2pathogenic variant carriers. Methods Retrospective cohort data on 18,935BRCA1and 12,339BRCA2female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. Results The ER-negative PRS showed the strongest association with BC risk forBRCA1carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33],P = 3x10(-72)). ForBRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36],P = 7x10(-50)). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk forBRCA1(HR = 1.32 [95% CI 1.25-1.40],P = 3x10(-22)) andBRCA2(HR = 1.44 [95% CI 1.30-1.60],P = 4x10(-12)) carriers. The associations in the prospective cohort were similar. Conclusion Population-based PRS are strongly associated with BC and EOC risks forBRCA1/2carriers and predict substantial absolute risk differences for women at PRS distribution extremes.Peer reviewe

Identification of a BRCA2-Specific modifier locus at 6p24 related to breast cancer risk

Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9×10−8). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors