5 results match your criteria: "JPA Research Center[Affiliation]"
Characterisation of heterozygous variants in French patients with Lynch syndrome.
J Med Genet
July 2020
Department of Genetics, Rouen University Hospital and UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Article Synopsis
- Heterozygous germline variants are linked to about 5% of Lynch syndrome (LS) cases, but their true prevalence may be underestimated due to challenges in routine screening caused by similar pseudogenes.
- The study identified 200 heterozygous variants in 195 French patients, with notable findings that a specific variant, c.137G>T, appears in 18% of cases, but no clear founder effect was established.
- Results indicate that while many variant carriers do not fit traditional family history criteria for LS, they still face a significant risk of early-onset cancers, particularly colorectal and endometrial types, underscoring the need for deeper understanding of variant penetrance.*
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Hum Mutat
November 2019
Genetics Department, Hospices Civils de Lyon, Lyon, France.
Article Synopsis
- Human retrocopies, which are RNA transcripts that use specific genetic machinery for retrotransposition, can impact genomic testing accuracy due to potential misinterpretation by next-generation sequencing (NGS) techniques.
- In a study, eight cases of retrocopies were identified during diagnostic NGS analyses, revealing discrepancies in how read alignments indicated copy number gains and intron-exon junctions were affected.
- The authors stress the importance of recognizing retrocopies during genetic testing to improve detection strategies and avoid common misunderstandings in genomic analysis.
Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome.
Hum Mutat
June 2019
Department of Pathology and Oncobiology, Montpellier University Hospital, Montpellier, France.
Lynch syndrome (LS) is the most frequent cause of hereditary colorectal cancer. A subset of patients with a history of LS shows no causal germline pathogenic alteration and are identified as having Lynch-like syndrome (LLS). Alu retrotransposons are the most abundant mobile DNA sequences in the human genome and have been associated with numerous human cancers by either disrupting coding regions or altering epigenetic modifications or splicing signals.
View Article and Find Full Text PDFDiversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
Genet Med
December 2018
Inserm UMR-S 1172, JPA Research Center, Lille University, and Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France.
Article Synopsis
- Constitutional epimutations offer an alternative explanation to genetic mutations as a cause of genetic diseases, with some being linked to heritable epigenetic changes in Lynch syndrome families.
- A long-range PCR next-generation sequencing method was implemented to examine the MLH1 gene in various families, successfully identifying new variants and a significant insertion in one family.
- This study represents the largest group of patients with MLH1 secondary epimutations and sheds light on the complex molecular mechanisms behind these epigenetic changes.
Asymmetric distribution of epidermal growth factor receptor directs the fate of normal and cancer keratinocytes in vitro.
Stem Cells Dev
February 2010
U837, JPA Research Center, Lille Cedex, France.
Cancer cells are unequal in a tumor mass and in established cultures. This is attributable to cancer stem cells with the unique ability to self-renew and to generate differentiating progeny. This ability is controlled at the level of asymmetric division by mechanisms that are yet not well defined.
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