6 research outputs found
Etude de populations europĂ©ennes de maĂŻs pour quelques caractĂšres d'intĂ©rĂȘt agronomique
International audienc
Ăvaluation des risques pour la santĂ© humaine et lâenvironnement et recommandations pour leurmaĂźtrise, dans le cadre de lâadministration des mĂ©dicaments vĂ©tĂ©rinaires antiparasitaires externes sous forme de bains, douches et pulvĂ©risations en Ă©levages de ruminants
Citation suggĂ©rĂ©e : Anses. (2022). Evaluation des risques pour la santĂ© humaine et lâenvironnement et recommandations pour leur maĂźtrise, dans le cadre de lâadministration des mĂ©dicaments vĂ©tĂ©rinaires antiparasitaires externes sous forme de bains, douches et pulvĂ©risations en Ă©levages ruminants. (Saisine n° 2018-SA-0269). Maisons-Alfort : Anses, 282 p.LâĂ©mergence ou la rĂ©Ă©mergence de maladies vectorielles dont les agents pathogĂšnes sonttransmis par des insectes ou des tiques, lâaugmentation de la prĂ©valence de la galepsoroptique chez les ruminants, conduisent les vĂ©tĂ©rinaires Ă prescrire entre autres destraitements antiparasitaires externes (APE) sous forme de bains, douches, pulvĂ©risations(BDP). Ces antiparasitaires sont des organophosphorĂ©s (OP), des pyrĂ©thrinoĂŻdes ou encoreun inhibiteur de la croissance larvaire.Ces traitements occasionnent une exposition des travailleurs aux Ă©mulsions antiparasitairesavec des risques potentiels pour lâutilisateur (pulvĂ©risations et inhalation, bains/douches etĂ©claboussuresâŠ) et pour lâenvironnement (ruissellements des Ă©mulsions lors de pulvĂ©risation,douche, Ă©pandage des reliquats de baignoireâŠ). De plus, des dĂ©fauts dâefficacitĂ© observĂ©svis-Ă -vis de certaines myiases (Wohlfahrtia magnifica) conduisent Ă des pratiques Ă©loignĂ©esdes recommandations de prescription (surconcentrations, mĂ©langes de diffĂ©rentes molĂ©cules,applications localesâŠ).Les recommandations peuprĂ©cises des rĂ©sumĂ©s des caractĂ©ristiques du produit (RCP)induisent un questionnement de la part des utilisateurs en termes de prĂ©vention de la santĂ©des professionnels, dâimpact environnemental notamment liĂ© Ă lâĂ©limination des effluents desĂ©levages. Il en dĂ©coule une nĂ©cessitĂ© de prĂ©ciser davantage les pratiques dâutilisation de cesmĂ©dicaments vĂ©tĂ©rinaires
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers
Abstract Background 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 breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear histopathological and molecular features of breast tumours occurring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumour signature may help in patient management. Methods To characterise hallmarks of ATM-associated tumours, we performed systematic pathology review of tumours from 21 participants from ataxia-telangiectasia families and 18 participants from HBOC families, as well as copy number profiling on a subset of 23 tumours. Morphology of ATM-associated tumours was compared with that of 599 patients with no BRCA1 and BRCA2 mutations from a hospital-based series, as well as with data from The Cancer Genome Atlas. Absolute copy number and loss of heterozygosity (LOH) profiles were obtained from the OncoScan SNP array. In addition, we performed whole-genome sequencing on four tumours from ATM loss-of-function variant carriers with available frozen material. Results We found that ATM-associated tumours belong mostly to the luminal B subtype, are tetraploid and show LOH at the ATM locus at 11q22â23. Unlike tumours in which BRCA1 or BRCA2 is inactivated, tumours arising in ATM deleterious variant carriers are not associated with increased large-scale genomic instability as measured by the large-scale state transitions signature. Losses at 13q14.11-q14.3, 17p13.2-p12, 21p11.2-p11.1 and 22q11.23 were observed. Somatic alterations at these loci may therefore represent biomarkers for ATM testing and harbour driver mutations in potentially âdruggableâ genes that would allow patients to be directed towards tailored therapeutic strategies. Conclusions Although ATM is involved in the DNA damage response, ATM-associated tumours are distinct from BRCA1-associated tumours in terms of morphological characteristics and genomic alterations, and they are also distinguishable from sporadic breast tumours, thus opening up the possibility to identify ATM variant carriers outside the ataxia-telangiectasia disorder and direct them towards effective cancer risk management and therapeutic strategies
Additional file 1: of Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers
Table S1. Genomic regions showing copy number loss or loss/LOH in at least 70% of ATM-associated tumours. (XLSX 70 kb
Additional file 3: of Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers
Table S2. Comparison of genes altered at the copy number level between ATM-associated tumours and tumours from TCGA. (XLSX 13 kb