Publications by authors named "D Stoppa-Lyonnet"
The prognostic of certain cancers improved significantly in recent years thanks not only to the launch of innovative treatments but also to progress made in the diagnostic field. Thus, next-generation sequencing (NGS) became paramount to help characterizing tumors and selecting the most pertinent treatments. The survey conducted by a multi stakeholder committee, at the end of 2022, with 103 actors of the management of cancer patients (public and private centers, labs, prescribers, biologists, pathologists, direction) confirmed the heterogeneity of use of NGS tests across France due to, mainly, the lack of systematic reimbursement of related costs.
View Article and Find Full Text PDFAtaxia-telangiectasia (A-T) is an autosomal-recessive disorder caused by pathogenic variants (PVs) of the ATM gene, predisposing children to hematological malignancies. We investigated their characteristics and outcomes to generate data-based treatment recommendations. In this multinational, observational study we report 202 patients aged ≤25 years with A-T and hematological malignancies from 25 countries.
View Article and Find Full Text PDFArticle Synopsis
- The study checked how well the BOADICEA model predicts breast cancer risk for people who carry certain gene changes (called pathogenic variants).
- They looked at information from a group of over 1,600 participants and found that the model worked really well, especially when considering family history and other risk factors.
- The results can help doctors and patients make better choices about cancer management, and the model can be accessed for free on the CanRisk website.
The Ataxia-Telangiectasia Mutated gene is implicated in DNA double-strand break repair. Controversies in clinical radiosensitivity remain known for monoallelic carriers of the pathogenic variant (PV). An evaluation of the single-nucleotide polymorphism (SNP) rs1801516 (G-A) showed different results regarding late subcutaneous fibrosis after breast radiation therapy (RT).
View Article and Find Full Text PDFBackground: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of (CIMBA), UK Biobank (UKBB), and FinnGen to identify novel HGSOC susceptibility loci and develop polygenic scores (PGS).
Methods: We analyzed >22 million variants for 398,238 women.