Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?

Autor: Marion Imbert‐Bouteille, Marion Gauthier‐Villars, Dominique Leroux, Isabelle Meunier, Isabelle Aerts, Livia Lumbroso‐Le Rouic, Sophie Lejeune, Capucine Delnatte, Caroline Abadie, Pascal Pujol, Claude Houdayer, Carole Corsini

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)

Abstract Background Retinoblastoma (Rb) is a rare intraocular malignant tumor in children with high overall survival. Predisposition to Rb is linked to RB1 germline mutations with high penetrance, but rare RB1 low‐penetrance variants are also known

Externí odkaz: https://doaj.org/article/6ef236193ee4411a8cecb491cfe6ec97

No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in

Autor: Marion, Imbert-Bouteille, Carole, Corsini, Marie-Christine, Picot, Lucas, Mizrahy, Sandrine, Akouete, Helena, Huguet, Frédéric, Thomas, David, Geneviève, Patrice, Taourel, Marc, Ychou, Virginie, Galibert, Chloé, Rideau, Karen, Baudry, Tatiana, Kogut Kubiak, Isabelle, Coupier, Rémy, Hobeika, Yvette, Macary, Alain, Toledano, Jérôme, Solassol, Antoine, Maalouf, Jean-Pierre, Daures, Pascal, Pujol

Publikováno v: Genes

According to clinical guidelines, the occurrence of very early-onset breast cancer (VEO-BC) (diagnosed ≤ age 30 years) or VEO ovarian cancer (VEO-OC) (diagnosed ≤ age 40 years) in families with BRCA1 or BRCA2 mutation (BRCAm) prompts advancing th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::446c9ff5e7f599785c6ebaec1142c341
https://pubmed.ncbi.nlm.nih.gov/34356116

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

Autor: Cyril Goizet, Patrick Calvas, Marie-Claire Vincent, Claire Guissart, Virginie Dorian, Nicolas Molinari, Caroline Rooryck-Thambo, Cathy Liautard-Haag, Annabelle Chaussenot, Romain Favre, Catherine Alix-Panabières, Sandra Pierredon, Laetitia Monteil, Philippe Khau Van Kien, Mélanie Fradin, Amandine Boureau-Wirth, Marion Imbert-Bouteille, Emmanuelle Haquet, Elsa Le Boette, Yuliya Petrov, Jacques Puechberty, Cécile Zordan, Céline Moutou, Laure Cayrefourcq, Cécile Rouzier, Marjolaine Willems, Claire Miry

Publikováno v: Scientific Reports
Scientific Reports, 2020, 10 (1), pp.9861. ⟨10.1038/s41598-020-66923-9⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)

Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA characteristics remai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebe4f6b46e24a815ff56ed8a16e2bd2
http://europepmc.org/articles/PMC7300110

Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?

Autor: Sophie Lejeune, Pascal Pujol, Livia Lumbroso-Le Rouic, Dominique Leroux, Claude Houdayer, Carole Corsini, Isabelle Meunier, Caroline Abadie, Marion Imbert-Bouteille, Capucine Delnatte, Isabelle Aerts, Marion Gauthier-Villars

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2019, 7, pp.e913. ⟨10.1002/mgg3.913⟩

Background Retinoblastoma (Rb) is a rare intraocular malignant tumor in children with high overall survival. Predisposition to Rb is linked to RB1 germline mutations with high penetrance, but rare RB1 low‐penetrance variants are also known. Rb surv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9fa9d10ee530512251b6c5260d8bb4b
https://doaj.org/article/6ef236193ee4411a8cecb491cfe6ec97

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

Autor: Pierre Rustin, Emilie Carme, camille lemattre, Yannis Duffourd, Vincent Meyer, Patricia Blanchet, François Rivier, Jean-Baptiste Rivière, Anne Boland, Thomas Guignard, Paule Bénit, Emmanuelle Haquet, Julien Thevenon, Elodie Sanchez, David Geneviève, Marion Imbert-Bouteille, Jean-François Deleuze, Doris Lechner, Agathe Roubertie, Frédéric Tran Mau-Them, Constance Wells, Florence Molinari, Vincent Gatinois

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
European Journal of Human Genetics, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
Eur J Hum Genet

International audience; Early infantile epileptic encephalopathy (EIEE) is a heterogeneous group of severe forms of age-related developmental and epileptic encephalopathies with onset during the first weeks or months of life. The interictal electroen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::857005df474d670ce35cd16284e2772d
https://hal.archives-ouvertes.fr/hal-02180849/document