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Your search keyword '"Salima El-Chehadeh"' showing total 2 results
Start Over Author "Salima El-Chehadeh" Journal european journal of human genetics
2 results on '"Salima El-Chehadeh"'

1. Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Author

Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, and Christel Thauvin-Robinet

Subjects
Fetus, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Genetics, Humans, Abnormalities, Multiple, Exome, Female, Autopsy, Ultrasonography, Prenatal, Genetics (clinical), Congenital Abnormalities
Abstract

Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple congenital abnormalities (MCA). Here, we investigated limits of prenatal phenotype for ES interpretation thanks to a blindly reanalysis of postmortem ES data using prenatal data only in fetuses affected by MCA and harboring a (likely)pathogenic variant or a variant of unknown significance (VUS). Prenatal ES identified all causative variant previously reported by postmortem ES (22/24 (92%) and 2/24 (8%) using solo-ES and trio-ES respectively). Prenatal ES identified 5 VUS (in four fetuses). Two of them have been previously reported by postmortem ES. Prenatal ES were negative for four fetuses for which a VUS were diagnosed after autopsy. Our study suggests that prenatal phenotype is not a limitation for implementing pES in the prenatal assessment of unsolved MCA to personalize fetal medicine and could influence indication of postmortem examination.

Published
2022
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2. Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

Author

Charles Coutant, Laurent Arnould, Christophe Philippe, Patrick Callier, Pierre Fumoleau, Myriam Bronner, Emmanuelle Ferrant, Sarab Lizard, Amandine Baurand, Jean-Louis Jouve, Laurence Faivre, Carole Chery, Gérard Couillault, Alexandra Delignette, Catherine Loustalot, Caroline Chapusot, Côme Lepage, Thierry Frebourg, Emilie Degrolard-Courcet, Laurent Martin, Francine Mugneret, Marie-Martine Padeano, Salima El Chehadeh, Séverine Guiu, Philippe Jonveaux, Fanny Coron, Joanna Sokolowska, Cyril Hatem, Service de Pathologie [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de chirurgie [Centre Georges-François Leclerc], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, Département d'oncologie médicale [Centre Georges-François Leclerc], Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Service d'Hépato-Gastro-Entérologie (CHU de Dijon), Polyclinique du Parc - Clinique Drevon [Dijon], Service d'Hématologie Clinique (CHU de Dijon), Service de pédiatrie (CHU de Dijon), Service de radiologie [Centre Georges-François Leclerc], Département de Biologie et pathologie des tumeurs [Centre Georges-François Leclerc], UNICANCER, Laboratoire de cytogénétique (CHU de Dijon), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), and Normandie Université (NU)

Subjects
Adult, Biallelic Mutation, RNA Splicing, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Biology, medicine.disease_cause, Article, Frameshift mutation, Genetics, medicine, Humans, Missense mutation, Age of Onset, Gene, Alleles, Genetics (clinical), BRCA2 Protein, Mutation, Point mutation, Computational Biology, Chromosome Breakage, Pedigree, 3. Good health, Amino Acid Substitution, Female, RNA Splice Sites, Chromosome breakage, Colorectal Neoplasms
Abstract

International audience; Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unexpectedly identified, despite the absence of clinical cardinal features of FA, a biallelic mutation of the FANCD1/BRCA2 corresponding to a frameshift alteration (c.1845_1846delCT, p.Asn615Lysfs*6) and a missense mutation (c.7802A>G, p.Tyr2601Cys). The diagnosis of FA was confirmed by the chromosomal analysis of lymphocytes. Reverse transcriptase (RT)-PCR analysis revealed that the c.7802A>G BRCA2 variation was in fact a splicing mutation that creates an aberrant splicing donor site and results partly into an aberrant transcript encoding a truncated protein (p.Tyr2601Trpfs*46). The atypical FA phenotype observed within this family was probably explained by the residual amount of BRCA2 with the point mutation c.7802A>G in the patients harbouring the biallelic FANCD1/BRCA2 mutations. Although this report is based in a single family, it suggests that CRCs may be part of the tumour spectrum associated with FANCD1/BRCA2 biallelic mutations and that the presence of such mutations should be considered in families with CRCs, even in the absence of cardinal features of FA.

Published
2013
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