Výsledky vyhledávání - "Pierre Naïbo"

Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for 'Lynch-like syndrome' including young patients

Autor: Cedrick Lefol, Christian Baudet, Pierre Naïbo, Qing Wang, Emilie Sohier, Chloé Grand-Masson, Alain Viari, Eric Ruano

Publikováno v: Eur J Hum Genet

Patients with tumors displaying high microsatellite instability (MSI-H) but no germline MMR inactivation are suspected for Lynch-like syndrome (LLS). To explore the involvement of acquired somatic MMR alteration as a cause, we screened 113 patient tu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcfe8f16395cdfacd01fa05984fd5d10
https://europepmc.org/articles/PMC7940425/

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Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome

Autor: Cedrick Lefol, Gaëlle Bougeard, Julie Leclerc, Thierry Frebourg, Marie Pierre Buisine, Sylviane Olschwang, Kévin Cassinari, Qing Wang, Stéphanie Baert-Desurmont, Pierre Naïbo, Denis Boidin, Stéphanie Vasseur

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2019-106256. ⟨10.1136/jmedgenet-2019-106256⟩
Journal of Medical Genetics, 2020, pp.jmedgenet-2019-106256. ⟨10.1136/jmedgenet-2019-106256⟩

BackgroundHeterozygous germline PMS2 variants are responsible for about 5% of Lynch syndrome (LS) but their prevalence is most likely underestimated because of complicated routine screening caused by highly homologous pseudogenes. Consequently, there

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cc56912f0a897e0808a1fb43ab4b7e9
https://hal-normandie-univ.archives-ouvertes.fr/hal-02460716

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A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome

Autor: Clémentine Legrand, Marine Lebrun, Pierre Naïbo, Magalie Peysselon, Fabienne Prieur, Caroline Kientz, Françoise Desseigne, Sandrine Handallou, Jean-Marc Rey, Sophie Nambot, Vincent Goussot, Nadim Hamzaoui, Qing Wang

Publikováno v: European Journal of Medical Genetics. 65:104409

The POLD1 gene is involved in DNA proofreading to ensure accurate DNA replication. Some germline alterations in its exonuclease domain are associated with predisposition to cancers and colonic polyps. Only a few pathogenic variants have been clearly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d13af5f1b93bbeed107be178bdbab0
https://doi.org/10.1016/j.ejmg.2021.104409

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Characterisation of heterozygous

Autor: Qing, Wang, Julie, Leclerc, Gaëlle, Bougeard, Sylviane, Olschwang, Stéphanie, Vasseur, Kévin, Cassinari, Denis, Boidin, Cédrick, Lefol, Pierre, Naïbo, Thierry, Frébourg, Marie Pierre, Buisine, Stéphanie, Baert-Desurmont

Publikováno v: Journal of medical genetics. 57(7)

Heterozygous germlineWe report 200Genomic rearrangements account for 18% of alterations. The c.137GT variant was observed in 18% of the patients, but a founder effect could not be clearly identified by haplotype analysis. Among class-4/5 variant carr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::566aedb4ae4b6448e121b1e87a2f85b8
https://pubmed.ncbi.nlm.nih.gov/31992580

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