A5064106220- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Hedgehog Signaling Pathway Studies
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- DNA Repair Mechanisms
- Colorectal Cancer Screening and Detection
- Cancer-related gene regulation
- Chronic Lymphocytic Leukemia Research
- CRISPR and Genetic Engineering
- Viral-associated cancers and disorders
- Genomics and Rare Diseases
- Wnt/β-catenin signaling in development and cancer
- RNA Research and Splicing
- Lung Cancer Research Studies
- Neuroblastoma Research and Treatments
- Digestive system and related health
- Lymphoma Diagnosis and Treatment
- Renal and related cancers
- Genetics and Neurodevelopmental Disorders
- Peptidase Inhibition and Analysis
- Health Systems, Economic Evaluations, Quality of Life
- Neonatal Respiratory Health Research
- Acute Lymphoblastic Leukemia research
Université Grenoble Alpes
2024
Centre Hospitalier Universitaire de Grenoble
2019-2024
Abstract The contribution of germline copy number variants (CNVs) to risk developing cancer in individuals with pathogenic BRCA1 or BRCA2 remains relatively unknown. We conducted the largest genome-wide analysis CNVs 15,342 and 10,740 variant carriers. used these results prioritise a candidate breast risk-modifier gene for laboratory biological validation. Notably, HR deletions suggested an elevated estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI 1.09–1.35) compared...
Only a few patients with germline AXIN2 variants and colorectal adenomatous polyposis or cancer have been described, raising questions about the actual contribution of this gene to (CRC) susceptibility. To assess clinical relevance for testing in suspected genetic predisposition CRC, we collected molecular data from French Oncogenetics laboratories analyzing context. Between 2004 June 2020, 10 different pathogenic/likely pathogenic were identified 11 unrelated individuals. Eight consecutive...
Abstract Background ELP1 pathogenic variants (PV) have been recently identified as the most frequent predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling in this new syndrome. Methods We retrospectively reviewed clinical and data of a French series 29 ELP1-mutated MB. Results All patients developed SHH-MB, with biallelic inactivation PTCH1 found 24 tumors. Other recurrent alterations encompassed TP53 pathway activation...
ABSTRACT A substantial number of hereditary colorectal cancer (CRC) and colonic polyposis cannot be explained by alteration in confirmed predisposition genes, such as mismatch repair (MMR) APC MUTYH . Recently, a certain potential genes have been suggested, involving each small cases reported so far. Here, we describe the detection rare variants NTLH1 , AXIN2 RNF43 BUB1 TP53 nine unrelated patients who were suspected for inherited CRC and/or polyposis. Seven them classified pathogenic or...
Abstract Background The MLH1 gene is one of the DNA mismatch repair genes (MMR), implicated in Lynch syndrome (LS), an autosomal dominant hereditary tumor susceptibility disease. advent next‐generation sequencing (NGS) technologies has accelerated diagnosis inherited diseases and increased percentage cancers. However, some complex genomic alterations require combination several analytical strategies to allow correct biological interpretations. Here, we describe a novel deletion its...
High-grade B-cell lymphoma with rearrangements of MYC and BCL2 and/or BCL6 is an aggressive mature neoplasm, whereas B-lymphoblastic immature cell proliferation, a frequent positivity for terminal deoxynucleotidyl transferase. The transformation low-grade follicular into lymphoblastic neoplasm expressing transferase very rare event.A 55-year-old Caucasian man was followed grade 1-2 carrying t(14;18) IGH/BCL2+ initially treated R-CHOP. presented two relapses. In the third relapse, patient had...
Abstract BACKGROUND Medulloblastomas (MB) Sonic hedgehog (SHH) subtype are associated with a cancer predisposition syndrome (CPS) in about 15% of cases, the most frequent being related to ELP1 pathogenic variant (PV). The aim our study is better evaluate penetrance this CPS and detail characteristics tumors. METHODS Twenty-nine ELP1-mutated MB identified France were retrospectively reviewed. Molecular tumor clinical features patients collected; whenever possible, germline DNA from their...