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المؤلفون: Tetsuro Noguchi, Nouha Bouali, Sawsen Besbes, Paul Gesta, Violaine Bourdon, Walid Sabri Hamadou, Abderrahim Khelif, Hélène Dreyfus, Rahma Mani, Yosra Ben Youssef, Laurence Faivre, Zohra Soua, Hélène Zattara, Véronique Mari, Valérie Bonadona, Rym El Abed, Catherine Dugast, Hagay Sobol
المصدر: Bulletin du Cancer. 108:798-805
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Fas Ligand Protein, Tunisia, DNA Mutational Analysis, Mutation, Missense, Apoptosis, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Genetic variation, Gene expression, medicine, Humans, Family, Genetic Predisposition to Disease, Radiology, Nuclear Medicine and imaging, fas Receptor, Caspase 10, Gene, Alleles, Caspase 8, Perforin, Family aggregation, Cancer, Hematology, General Medicine, medicine.disease, Introns, Cross-Sectional Studies, 030104 developmental biology, Oncology, Hematologic Neoplasms, 030220 oncology & carcinogenesis, Cancer research, France, Carcinogenesis
الوصف: Summary Introduction Apoptosis deregulation have been associated to tumorigenesis process and was highlighted as a prominent hallmark of cancer. Several mutations have been reported in several forms of Blood cancer. However, it has never been investigated in familial aggregations of hematological malignancies. Methods In this study, we performed a mutational analysis by sequencing the entire coding regions in four key apoptotic genes FAS, FASLG, CASP8 and CASP10 in 92 independent families belonging to French and Tunisian populations and diagnosed with several forms of familial hematological malignancies. Results We report 15 genetic variations among which 7 were previously reported in several form of cancers and have a potential effect on gene expression. Particularly, the CASP8 variants p.Asp302His and p.Lys337Lys were detected in 15% and 10% of our group of patients respectively and were previously reported in association to breast cancer and to breast cancer susceptibility. Discussion In this study, we do not report the underlining deleterious mutations in familial hematological malignancies, but we describe some variants with potential risk of developing blood cancer. To gain further insights on the association between apoptosis pathway deregulation and familial hematological malignancies, more apoptotic genes should be investigated.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d3c5db6412681db8e8f39c18a11331Test
https://doi.org/10.1016/j.bulcan.2021.04.009Test -
2دورية أكاديمية
المؤلفون: Julie Lecarpentier, Emmanuelle Mouret-fourme, Christine Lasset, Jean-pierre Fricker, Olivier Caron, Pascaline Berthet, Laurence Faivre, François Eisinger, Marc Frénay, Elisabeth Luporsi, Alain Lortholary, Chrystelle Colas, Catherine Dugast, Michel Longy, Pascal Pujol, Julie Tinat, Rosette Lidereau, Nadine Andrieu
المساهمون: The Pennsylvania State University CiteSeerX Archives
الوصف: Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1/2 carrier cohort (GENEPSO).
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3دورية أكاديمية
المؤلفون: R. El Abed, Violaine Bourdon, Ilia Voskoboinik, Halima El Omri, Yosra Ben Youssef, Mohamed Adnène Laatiri, Laëtitia Huiart, François Eisinger, Laetitia Rabayrol, Marc Frénay, Paul Gesta, Liliane Demange, Hélène Dreyfus, Valérie Bonadona, Catherine Dugast, Hélène Zattara, Laurence Faivre, Monia Zaier, S. Jemni, T Noguchi, Hagay Sobol, Zohra Soua
مصطلحات موضوعية: Hemophagocytic Lymphohistiocytosis and Related Disorders, Hematology, Medicine, Health Sciences, Epidemiology and Treatment of Childhood Leukemia, Public Health, Environmental and Occupational Health, Supporting Health Care Transition from Adolescence to Adulthood, Speech and Hearing, Health Professions, Perforin Gene Mutations, Familial Hemophagocytic Lymphohistiocytosis, Perforin, Missense mutation, Hemophagocytic lymphohistiocytosis, Genetics, FOS Biological sciences, Gene, Germline mutation, Allele, Mutation, Germline, Mutant, Biology, Immunology, FOS Clinical medicine, Cancer research, Disease, Internal medicine, Cytotoxic T cell, In vitro
الوصف: Perforin gene (PRF1) mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH) and in patients with lymphoma. The aim of the present study was to determine whether patients with a familial aggregation of hematological malignancies harbor germline perforin gene mutations. For this purpose, 81 unrelated families from Tunisia and France with aggregated hematological malignancies were investigated. The variants detected in the PRF1 coding region amounted to 3.7% (3/81). Two of the three variants identified were previously described: the p.Ala91Val pathogenic mutation and the p.Asn252Ser polymorphism. A new p.Ala 211Val missense substitution was identified in two related Tunisian patients. In order to assess the pathogenicity of this new variation, bioinformatic tools were used to predict its effects on the perforin protein structure and at the mRNA level. The segregation of the mutant allele was studied in the family of interest and a control ... : تم تحديد طفرات جين البرفورين (PRF1) في بعض المرضى الذين تم تشخيصهم بالشكل العائلي لداء الخلايا الليمفاوية البلعمة (HLH) وفي المرضى الذين يعانون من سرطان الغدد الليمفاوية. كان الهدف من هذه الدراسة هو تحديد ما إذا كان المرضى الذين يعانون من تجمع عائلي للأورام الخبيثة الدموية يحملون طفرات جينية في الخط الجرثومي. لهذا الغرض، تم التحقيق في 81 عائلة غير مرتبطة من تونس وفرنسا تعاني من أورام خبيثة دموية مجمعة. بلغت المتغيرات المكتشفة في منطقة ترميز PRF1 3.7 ٪ (3/81). تم وصف اثنين من المتغيرات الثلاثة التي تم تحديدها سابقًا: الطفرة المسببة للأمراض p.Ala91Val وتعدد الأشكال p.Asn252Ser. تم تحديد بديل جديد خاطئ لـ p.Ala 211Val في مريضين تونسيين ذوي صلة. من أجل تقييم الإمراضية لهذا الاختلاف الجديد، تم استخدام أدوات المعلوماتية الحيوية للتنبؤ بتأثيراتها على بنية بروتين بيرفورين وعلى مستوى الحمض النووي الريبوزي المرسال. تمت دراسة الفصل بين الأليل الطافر في العائلة محل الاهتمام وتم فحص مجموعة متحكمة. تشير حقيقة أنه لم يتم العثور على هذا المتغير في 200 كروموسوم متحكم إلى أنه قد يكون ممرضًا. ومع ذلك، فإن التعبير المفرط عن ...
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المؤلفون: Valérie Bonadona, Chaker Ben Salem, Paul Gesta, Sawsen Besbes, Fabienne Brenet, Hagay Sobol, François Eisinger, Catherine Dugast, Hélène Dreyfus, Mohamed-Adnène Laatiri, Abderrahim Khélif, Testsuro Noguchi, Patrice Dubreuil, Hélène Zattara, Muriel D. David, Sébastien Letard, Laurence Faivre, Angelo Paci, Véronique Mari, Virginie Penard-Lacronique, Sofien Laarif, Violaine Bourdon, Walid-Sabri Hamadou, Yosra Ben Youssef, Zohra Soua
المصدر: Annals of Hematology. 95:1943-1947
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, IDH1, Biology, IDH2, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, medicine, Humans, Aged, Genetics, Family aggregation, Cancer, Hematology, General Medicine, Middle Aged, medicine.disease, Isocitrate Dehydrogenase, 030104 developmental biology, Isocitrate dehydrogenase, Hematologic Neoplasms, 030220 oncology & carcinogenesis, Mutation, Female
الوصف: Isocitrate dehydrogenase IDH 1 and IDH 2 mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved. We targeted IDH1 and IDH2 genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors. We report one IDH1 variant: c.315 G>T, p.Gly105Gly in 15 % of cases, which was assigned to the worst outcome in several studies. Three IDH2 variants were found, among them, one intronic substitution c.543+45 G>A (rs142033117) and two new variants not previously described: c.389 A>T, p.Lys130Met and c.414 T>C, p.Thr138Thr. The p.Lys130Met was found in one case diagnosed with Waldenstrom’s disease with familial history of cancer. The enrolled in silico analysis, the functional study, and the absence of this variant in control population strengthen the hypothesis of its deleterious effect. From an extended number of candidate genes analyzed in familial hematological malignancies, IDH2 might be considerably involved since we reported a potential damaging effect.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14bb8f443e5c67a1bf490089f3d86726Test
https://doi.org/10.1007/s00277-016-2813-9Test -
5دورية أكاديمية
المؤلفون: Catherine Dugast, Annette Gaudin, Louis Toujas
المساهمون: The Pennsylvania State University CiteSeerX Archives
الوصف: Culturing human monocytes in the pres-ence of granulocyte-macrophage colony-stimulating factor (GM-CSF) and interleukin-4 (IL-4) has been reported to provoke the formation of multinucleated giant cells (GCs). hi the present work, GCs were gen-erated in a two-step procedure in which macrophages were first differentiated from monocytes before being fused into GCs. The two cytokines used acted sequen-tially. GM-CSF was required for monocyte differentia-tion and IL-4 for macrophage fusion. Macrophages were purified from cultures of blood mononuclear cells maintained for 7 days in plastic bags. When seeded in conventional plastic-ware in the presence ofIL-4, these macrophages showed an increased motility, spread in thin cytoplasmic lamellas, regrouped in clusters, and within 1-3 weeks, differentiated into GCs. Multinu-cleated cells also appeared in IL-4-untreated macro-phage cultures but the number of nuclei did not ex-ceed 2 or 3, compared with more than 30 in the presence of IL-4. Scanning electron microscopy of GCs showed highly developed pseudopods. GCs reacted with anfi-CD11b -CD54,-CD68,-LILA-ABC, and-HLA-DR monoclonal antibodies and AMH-152 but were CD14- and CD64-negative. Both untreated and IL-4-treated macrophages conserved pinocytic and phago-cytic activity. Thus, IL-4 induced a differentiation pro-cess in which macrophages lost markers like CD14 and CD64, acquired an enhanced membrane motil-ity, and fused in multinucleated GCs. J. Leukoc. Biol.
وصف الملف: application/pdf
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المؤلفون: Walid Sabri Hamadou, Yosra Ben Youssef, Paul Gesta, Aurelie Fabre, Abderrahim Khelif, Testsuro Noguchi, François Eisinger, Mohamed Adnène Laatiri, Zohra Soua, Hélène Dreyfus, Sawsen Besbes, Véronique Mari, Laurence Faivre, Hagay Sobol, Pascaline Gaildrat, Hélène Zattara, Violaine Bourdon, Saloua Yacoub Jemni, Catherine Dugast, Valérie Bonadona, H. Regaieg
المصدر: Annals of Hematology. 95:1043-1050
مصطلحات موضوعية: Adult, Male, Candidate gene, NPM1, Adolescent, Acute myeloblastic leukemia, DNA Mutational Analysis, Biology, Germline, Cohort Studies, 03 medical and health sciences, Exon, 0302 clinical medicine, hemic and lymphatic diseases, Genetic predisposition, medicine, Humans, Proto-Oncogene Proteins c-cbl, Aged, Genetics, Genetic Variation, Nuclear Proteins, Family aggregation, Hematology, General Medicine, Janus Kinase 2, Middle Aged, medicine.disease, Pedigree, Hematologic Neoplasms, 030220 oncology & carcinogenesis, Core Binding Factor Alpha 2 Subunit, Cancer research, Female, Nucleophosmin, 030215 immunology, Minigene
الوصف: Familial aggregation of hematological malignancies has been reported highlighting inherited genetic predisposition. In this study, we targeted four candidate genes: JAK2 and RUNX1 genes assuring a prominent function in hematological process and CBL and NPM1 as proto-oncogenes. Their disruption was described in several sporadic hematological malignancies. The aim of this study is to determine whether JAK2, CBL, RUNX1, and NPM1 germline genes mutations are involved in familial hematological malignancies. Using direct sequencing, we analyzed JAK2 (exons 12 and 14); CBL (exons 7, 8 and 9); NPM1 (exon 12) and the entire RUNX1 in 88 independent families belonging to Tunisian and French populations. Twenty-one sporadic acute leukemias were included in this study. We reported a heterozygous intronic c.1641 + 6 T > C JAK2 variant (rs182123615) found in two independent familial cases diagnosed with gastric lymphoma and Hodgkin lymphoma. The in silico analysis suggested a potential impact on splicing, but the functional splicing minigene reporter assay on rs182123615 variant showed no aberrant transcripts. In one sporadic acute myeloblastic leukemia, we reported an insertion 846 in. TGTT in exon 12 of NPM1 gene that may impact the normal reading frame. The rs182123615 JAK2 variant was described in several contexts including myeloproliferative neoplasms and congenital erythrocytosis and was supposed to be pathogenic. Through this current study, we established the assessment of pathogenicity of rs182123615 and we classified it rather as rare polymorphism.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::371a1460270631669f693dd47f4fbe09Test
https://doi.org/10.1007/s00277-016-2678-yTest -
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المؤلفون: Tan Dat Nguyen, Chabbert-Buffet Nathalie, Capucine Delnatte, Audrey Mailliez, Isabelle Tennevet, Jérôme Lemonnier, Pascaline Berthet, Pascale This, L. Roca, Virginie Galibert, Paul Gesta, Suzette Delaloge, Pascal Pujol, Jean-Pierre Fricker, Jean Chiesa, Alain Lortholary, Hélène Dreyfus, Laurence Venat-Bouvet, Catherine Dugast, Christine Lasset
المصدر: Journal of Clinical Oncology. 38:1534-1534
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, biology, business.industry, Letrozole, medicine.disease, Placebo, Germline, Double blind, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Breast cancer, Breast Cancer Prevention Trial, 030220 oncology & carcinogenesis, Internal medicine, biology.protein, medicine, Aromatase, business, 030215 immunology, medicine.drug
الوصف: 1534 Background: Women with germline BRCA1/2 (gBRCA1/2) mutations have a 70% lifetime risk of breast cancer (BC). Medical prevention by aromatase inhibitors is effective in high-risk patients (pts), including those with familial risk. However, hormone prevention has not been specifically addressed in women (wn) carrying gBRCA1/2 mutations. Methods: LIBER is a randomized, double-blind, placebo-controlled phase III trial evaluating 5-year treatment with letrozole 2.5 mg/day (L) versus placebo (P) on decreasing BC incidence in post-menopausal women with gBRCA1/2 mutations ( NCT00673335 ). Eligible wn were aged 40-70 and could have had unilateral BC > 5 years ago. Randomization was stratified on mutation ( BRCA1/BRCA2), bilateral oophorectomy and history of prior BC. Primary endpoint was 5-year invasive BC-free survival (BC-FS) in wn with or without previous BC. Main secondary endpoints were safety and quality of life (menopause rating scale, SF36). 270 pts were required to observe 37 events to show a gain in 5-year invasive BC-FS from 80% to 92% (HR=0.35) with 1-sided α=0.05 and 90% power. Results: 170 wn were randomized from 02/2008 to 02/2013; 86 and 84 were assigned to the P and L arm. Median age was 55 years (range 40-70). Pt characteristics were well balanced; 59% and 41% carried gBRCA1 and gBRCA2 mutations. In P and L arms, 47% and 43% had prior BC, 43% and 42% stopped treatment prematurely, 37 and 23 serious adverse events occurred, and during active treatment, 8 and 10 wn had grade 3/4 toxicity. Median follow-up was 72.7 months. Five-year BC-FS did not significantly differ between the P and L arms (92% vs 91%, HR 0.83; 95%CI: 0.3-2.3, p=0.73) in the overall population, nor in the subgroups of wn with and without previous BC (74% vs 91%; HR 0.43; 95% CI: 0.1-1.3; 90% vs 86%; HR 1.29; 95% CI 0.4-3.9), gBRCA1 versus gBRCA2 or hormone receptor-positive BC. Letrozole had no effect on quality of life. The two groups did not significantly differ in bone density, which decreased over time in the overall population. Conclusions: In this prospective preventive trial, BC-FS was not significantly decreased by letrozole versus placebo in women with BRCA1/2 mutations. However, the study was underpowered (170 of 270 pts expected). Despite no differences in safety and quality of life, drop-out rate was high in both P and L arms. Clinical trial information: NCT00673335.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6b8f59f39a944554765edfdbb60fc6a1Test
https://doi.org/10.1200/jco.2020.38.15_suppl.1534Test -
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المؤلفون: Paul Gesta, Véronique Mari, Testsuro Noguchi, Abderrahim Khelif, Sawsen Besbes, Rahma Mani, Hélène Zattara, Yosra Ben Youssef, Hagay Sobol, François Eisinger, Laurence Faivre, Zohra Soua, Violaine Bourdon, Valérie Bonadona, Hélène Dreyfus, Walid Sabri Hamadou, Catherine Dugast
المصدر: Annals of hematology. 96(10)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Tunisia, Mutation, Missense, Breast Neoplasms, Gene mutation, Biology, medicine.disease_cause, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, medicine, Genetic predisposition, Humans, Family, Genetic Predisposition to Disease, Genetics, Mutation, Acute leukemia, Hematology, GATA2, Myeloid leukemia, General Medicine, medicine.disease, Neoplasm Proteins, GATA2 Transcription Factor, Leukemia, Myeloid, Acute, 030104 developmental biology, Amino Acid Substitution, 030220 oncology & carcinogenesis, Hematologic Neoplasms, Female, France
الوصف: The genetic predisposition to familial hematological malignancies has been previously reported highlighting inherited gene mutations. Several genes have been reported but genetic basis remains not well defined. In this study, we extended our investigation to a potential candidate GATA2 gene which was analyzed by direct sequencing in 119 cases including familial aggregations with a variety of hematological malignancies and sporadic acute leukemia belonging to Tunisian and French populations. We reported a deleterious p.Arg396Gln GATA2 mutation in one patient diagnosed with both sporadic acute myeloid leukemia (AML) and breast cancer. We also reported several GATA2 variations in familial cases. The absence of deleterious mutations in this large cohort of familial aggregations of hematological malignancies may strengthen the hypothesis that GATA2 mutations are an important predisposing factor, although as a secondary genetic event, required for the development of overt malignant disease.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc820a9ff92946870eca5f1dc144cab5Test
https://pubmed.ncbi.nlm.nih.gov/28752392Test -
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المؤلفون: Sylvie Mazoyer, Valérie Layet, Carole Verny-Pierre, Claude Adenis, Marie-Gabrielle Dondon, Isabelle Mortemousque, Morgane Marcou, Olga M. Sinilnikova, Philippe Jonveaux, Anne Floquet, François Eisinger, Yves-Jean Bignon, Catherine Noguès, Laurence Gladieff, Capucine Delnatte, Olivier Caron, Bruno Buecher, Pascaline Berthet, Anne Fajac, Clotilde Penet, Séverine Eon-Marchais, Sandra Fert-Ferrer, Florent Soubrier, Dominique Stoppa-Lyonnet, Chrystelle Colas, Isabelle Coupier, Christine Lasset, Emmanuelle Barouk-Simonet, Michel Longy, Jean-Pierre Fricker, Jean Chiesa, Sophie Giraud, Dominique Leroux, Catherine Dugast, Sophie Lejeune-Dumoulin, Hélène Dreyfus, Annie Chevrier, Odile Cohen-Haguenauer, Thierry Frebourg, Liliane Demange, Julie Tinat, Fabienne Lesueur, Pascal Pujol, Emmanuelle Mouret-Fourme, Elisabeth Luporsi, Christine Maugard, Dorothée Le Gal, Noura Mebirouk, Séverine Audebert-Bellanger, Laure Barjhoux, Muriel Belotti, Eve Cavaciuti, Marion Gauthier-Villars, Marie-Agnès Collonge-Rame, Paul Gesta, Jean-Marc Limacher, Odile Bera, Lucie Toulemonde, Anne Tardivon, Fabienne Prieur, Laurence Faivre, Juana Beauvallet, Alain Lortholary, Nadine Andrieu, François Cornelis, Marc Frenay, Valérie Sornin, Laurence Venat-Bouvet, Francesca Damiola, Valérie Bonadona
المساهمون: Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon (HCL), Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie [Paris], Université Paris sciences et lettres (PSL), Service de génétique, Institut Curie Paris, Onco-génétique, Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Catherine-de-Sienne [Nantes] (CCS), CRLCC Eugène Marquis (CRLCC), Centre Hospitalier Georges Renon [Niort] (CH Georges Renon Niort), CRLCC Paul Strauss, CRLCC René Huguenin, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service d'oncogénétique [Centre georges-François Leclerc], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), UNICANCER, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), CRLCC René Gauducheau, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Centre Léon Bérard [Lyon], Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, Département d'Oncologie et Hématologie [Strasbourg], Les Hôpitaux Universitaires de Strasbourg (HUS), Institut Bergonié [Bordeaux], Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université de Lille-UNICANCER, Service d'Oncologie médicale [CHU Limoges], CHU Limoges, Polyclinique de Courlancy, Institut Sainte Catherine [Avignon], Centre Hospitalier Universitaire [Grenoble] (CHU), Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL), UNICANCER-Université Côte d'Azur (UCA), Institut Claudius Regaud, Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Département de génétique médicale en pédiatrie [CHRU Brest], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Hôpital Jeanne de Flandre [Lille], Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Hôpital pasteur [Colmar], Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Biomolécules Max Mousseron [Pôle Chimie Balard] (IBMM), Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Métropole Savoie [Chambéry], CRLCC Jean Godinot, Institut du cancer Courlancy-Reims, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Hôpital Gustave Flaubert, Service de génétique médicale CHU Grenoble Hôpital Couple Enfant, CHU Grenoble, Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Centre Viggo-Petersen, Service de Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), CHU de la Martinique [Fort de France], Institut Curie, Département d'Imagerie Médicale (Curie Institute, Department of Medical Imaging), F-75005 Paris, France., Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), UL, NGERE, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), MINES ParisTech - École nationale supérieure des mines de Paris, UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), Université Lille Nord de France (COMUE)-UNICANCER, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
المصدر: BMC Cancer
BMC Cancer, 2016, 16 (1), pp.606-606. ⟨10.1186/s12885-015-2028-9⟩
BMC Cancer, BioMed Central, 2016, 16 (1), pp.606-606. ⟨10.1186/s12885-015-2028-9⟩مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, [SDV]Life Sciences [q-bio], Genome-wide association study, Identifies 2, Genome-Wide Association, 0302 clinical medicine, Missing heritability problem, Confer Susceptibility, Susceptibility Loci, 10. No inequality, skin and connective tissue diseases, education.field_of_study, medicine.diagnostic_test, BRCA1 Protein, Middle Aged, 16. Peace & justice, 3. Good health, Neoplasm Proteins, [SDV] Life Sciences [q-bio], 030220 oncology & carcinogenesis, Female, France, Research Article, Adult, Risk, medicine.medical_specialty, Population, Breast Neoplasms, 03 medical and health sciences, Germline mutation, Breast cancer, Internal medicine, medicine, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, education, Germ-Line Mutation, Alleles, Genetic testing, Aged, Gynecology, BRCA2 Protein, Common Variants, business.industry, Genetic heterogeneity, Cancer, medicine.disease, 030104 developmental biology, business
الوصف: Background Less than 20 % of familial breast cancer patients who undergo genetic testing for BRCA1 and BRCA2 carry a pathogenic mutation in one of these two genes. The GENESIS (GENE SISter) study was designed to identify new breast cancer susceptibility genes in women attending cancer genetics clinics and with no BRCA1/2 mutation. Methods The study involved the French national network of family cancer clinics. It was based on enrichment in genetic factors of the recruited population through case selection relying on familial criteria, but also on the consideration of environmental factors and endophenotypes like mammary density or tumor characteristics to assess potential genetic heterogeneity. One of the initial aims of GENESIS was to recruit affected sibpairs. Siblings were eligible when index cases and at least one affected sister were diagnosed with infiltrating mammary or ductal adenocarcinoma, with no BRCA1/2 mutation. In addition, unrelated controls and unaffected sisters were recruited. The enrolment of patients, their relatives and their controls, the collection of the clinical, epidemiological, familial and biological data were centralized by a coordinating center. Results Inclusion of participants started in February 2007 and ended in December 2013. A total of 1721 index cases, 826 affected sisters, 599 unaffected sisters and 1419 controls were included. 98 % of participants completed the epidemiological questionnaire, 97 % provided a blood sample, and 76 % were able to provide mammograms. Index cases were on average 59 years old at inclusion, were born in 1950, and were 49.7 years of age at breast cancer diagnosis. The mean age at diagnosis of affected sisters was slightly higher (51.4 years). The representativeness of the control group was verified. Conclusions The size of the study, the availability of biological specimens and the clinical data collection together with the detailed and complete epidemiological questionnaire make this a unique national resource for investigation of the missing heritability of breast cancer, by taking into account environmental and life style factors and stratifying data on endophenotypes to decrease genetic heterogeneity.
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e441c687b1238500e6c41a65dcf7baTest
https://hal.univ-lorraine.fr/hal-01662200/documentTest -
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المؤلفون: Florence Joly, Audrey Emmanuelle Dugué, Florence Polycarpe, Alexandra Leconte, Valérie Layet, Bertrand Volard, Estelle Jamard, Grégoire Davy, Isabelle Tennevet, Pascaline Berthet, Catherine Dugast, Thierry Frebourg, Dominique Vaur, Julie Tinat, Caroline Abadie, Bénédicte Clarisse, Sophie Krieger, Angelina Legros, Laurent Castera
المصدر: Familial cancer. 16(2)
مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Cancer Research, medicine.medical_specialty, Heterozygote, animal structures, Population, Genes, BRCA1, Single-nucleotide polymorphism, 030105 genetics & heredity, Biology, Allelic Imbalance, Polymorphism, Single Nucleotide, 03 medical and health sciences, symbols.namesake, Young Adult, 0302 clinical medicine, Germline mutation, Internal medicine, Genetics, medicine, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Prospective Studies, Allele, education, Genetics (clinical), Fisher's exact test, Germ-Line Mutation, Aged, Aged, 80 and over, education.field_of_study, BRCA1 Protein, Cancer, Middle Aged, medicine.disease, 030220 oncology & carcinogenesis, Case-Control Studies, symbols, Hereditary Breast and Ovarian Cancer Syndrome, Female, Ovarian cancer
الوصف: Germline allele specific expression (ASE), resulting in a lowered expression of one of the BRCA1 alleles, has been described as a possible predisposition marker in Hereditary Breast or Ovarian Cancer (HBOC), usable for molecular diagnosis in HBOC. The main objective of this prospective case-control study was to compare the proportion of ASE between controls without familial history of breast or ovarian cancer, and HBOC cases without BRCA1 or BRCA2 deleterious mutation. BRCA1 ASE evaluated on three SNPs among controls and HBOC patients without deleterious mutation were assessed by pyrosequencing. The allelic ratios and the proportion of ASE were compared between controls and cases using a Student's t test and a Fisher exact test, respectively. The linearity and reproducibility of the ASE dosage was demonstrated with R2 > 0.99 and a coefficient of variation below 10 %, and ASE was detected in two positive controls harbouring BRCA1 truncated mutations. In the heterozygote population, composed of 99/264 controls (37.5 %) and 96/227 patients (42.3 %), we detected a 5 % ASE without truncated mutations, in each population. We failed to detect any significant difference of ASE between controls and patients. So far, BRCA1 Allelic specific expression is not usable in routine diagnosis as a possible predisposition marker in HBOC patients except for the detection of truncated mutations.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a25dc4e21afee3c93cf9b19e5e172402Test
https://pubmed.ncbi.nlm.nih.gov/27783335Test
