Gilles Thomas

Impact of Intermittent Positive Pressure Breathing on Thoracic Growth in Children With Type 1 Spinal Muscular Atrophy

C. Thébault, Sophie Denamur, Gilles Thomas, Audrey Barzic et autres

INTRODUCTION: The emergence of new disease-modifying treatments for type I spinal muscular atrophy (SMA I) has led to a paradigm shift in the respiratory management of these patients. Accompanying pulmonary and thoracic growth appears to be a key factor in their morbidity …

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Comprehensive molecular characterization of mitochondrial genomes in human cancers

Yuan Yuan, Young Seok Ju, Young-Wook Kim, Jun Li et autres

Mitochondria are essential cellular organelles that play critical roles in cancer. Here, as part of the International Cancer Genome Consortium/The Cancer Genome Atlas Pan-Cancer Analysis of Whole Genomes Consortium, which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumor types, we …

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High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations

Yiqun Zhang, Fengju Chen, Nuno A. Fonseca, Yao He et autres

The impact of somatic structural variants (SVs) on gene expression in cancer is largely unknown. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole-genome sequencing data and RNA sequencing from a common set of 1220 …

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GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients

David G. Cox, Elsa Curtit, Gilles Romieu, P. Fumoleau et autres

// David G. Cox 1 , Elsa Curtit 2 , Gilles Romieu 3 , Pierre Fumoleau 4 , Maria Rios 5 , Hervé Bonnefoi 6 , Thomas Bachelot 7 , Patrick Soulié 8 , Christelle Jouannaud 9 , Hugues Bourgeois 10 , …

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A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers

Anthony Ferrari, Anne Vincent‐Salomon, Xavier Pivot, Anne-Sophie Sertier et autres

HER2-positive breast cancer has long proven to be a clinically distinct class of breast cancers for which several targeted therapies are now available. However, resistance to the treatment associated with specific gene expressions or mutations has been observed, revealing the underlying diversity …

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Efficacy of 2LPAPI®, a Micro-Immunotherapy Drug, in Patients with High-Risk Papillomavirus Genital Infection

Gilles Thomas, Hélène Cluzel, Jacqueline Lafon, Jacques Bruhwyler et autres

Human papillomaviruses (HPVs) are well known for being linked to the development of cervical cancers, most of them being caused by the high-risk (HR) oncogenic genotypes, mainly 16 and 18. The efficacy of 2LPAPI® (Labo’Life), a micro-immunotherapy homeopathic drug, has been evaluated …

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Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2

Sophie Blein, Laure Barjhoux, Francesca Damiola, Marie‐Gabrielle Dondon et autres

Breast Cancer is a complex multifactorial disease for which high-penetrance mutations have been identified. Approaches used to date have identified genomic features explaining about 50% of breast cancer heritability. A number of low- to medium penetrance alleles (per-allele odds ratio < 1.5 …

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Processed pseudogenes acquired somatically during cancer development

Susanna L. Cooke, Adam Shlien, John L. Marshall, Christodoulos Pipinikas et autres

Cancer evolves by mutation, with somatic reactivation of retrotransposons being one such mutational process. Germline retrotransposition can cause processed pseudogenes, but whether this occurs somatically has not been evaluated. Here we screen sequencing data from 660 cancer samples for somatically acquired pseudogenes. …

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Genotype/Phenotype Analyses for 53 Crohn’s Disease Associated Genetic Polymorphisms

Camille Jung, Jean–Frédéric Colombel, Marc Lémann, Laurent Beaugerie et autres

BACKGROUND & AIMS: Recent studies reported a role for more than 70 genes or loci in the susceptibility to Crohn's disease (CD). However, the impact of these associations in clinical practice remains to be defined. The aim of the study was to …

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8q24 Cancer Risk Allele Associated with Major Metastatic Risk in Inflammatory Breast Cancer

François Bertucci, Arnaud Lagarde, Anthony Ferrari, Pascal Finetti et autres

BACKGROUND: Association studies have identified low penetrance alleles that participate to the risk of cancer development. The 8q24 chromosomal region contains several such loci involved in various cancers that have been recently studied for their propensity to influence the clinical outcome of …

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Detectable clonal mosaicism and its relationship to aging and cancer

Kevin B. Jacobs, Meredith Yeager, Weiyin Zhou, Sholom Wacholder et autres

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Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma

Sophie Postel‐Vinay, Amélie S Véron, Franck Tirode, Gaëlle Pierron et autres

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