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1. Bone sarcomas: ESMO–EURACAN–GENTURIS–ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up

Author

Strauss, S.J., Frezza, A.M., Abecassis, N., Bajpai, J., Bauer, S., Biagini, R., Bielack, S., Blay, J.Y., Bolle, S., Bonvalot, S., Boukovinas, I., Bovee, J.V.M.G., Boye, K., Brennan, B., Brodowicz, T., Buonadonna, A., Alava, E. de, Tos, A.P. dei, Muro, X.G. del, Dufresne, A., Eriksson, M., Fagioli, F., Fedenko, A., Ferraresi, V., Ferrari, A., Gaspar, N., Gasperoni, S., Gelderblom, H., Gouin, F., Grignani, G., Gronchi, A., Haas, R., Hassan, A.B., Hecker-Nolting, S., Hindi, N., Hohenberger, P., Joensuu, H., Jones, R.L., Jungels, C., Jutte, P., Kager, L., Kasper, B., Kawai, A., Kopeckova, K., Krakorova, D.A., Cesne, A. le, Grange, F. le, Legius, E., Leithner, A., Pousa, A.L., Martin-Broto, J., Merimsky, O., Messiou, C., Miah, A.B., Mir, O., Montemurro, M., Morland, B., Morosi, C., Palmerini, E., Pantaleo, M.A., Piana, R., Piperno-Neumann, S., Reichardt, P., Rutkowski, P., Safwat, A.A., Sangalli, C., Sbaraglia, M., Scheipl, S., Schoffski, P., Sleijfer, S., Strauss, D., Hall, K.S., Trama, A., Unk, M., Sande, M.A.J. van de, Graaf, W.T.A. van der, Houdt, W.J. van, Frebourg, T., Ladenstein, R., Casali, P.G., Stacchiotti, S., ESMO Guidelines Comm, EURACAN, GENTURIS, ERN PaedCan, European Society for Medical Oncology, Strauss S.J., Frezza A.M., Abecassis N., Bajpai J., Bauer S., Biagini R., Bielack S., Blay J.Y., Bolle S., Bonvalot S., Boukovinas I., Bovee J.V.M.G., Boye K., Brennan B., Brodowicz T., Buonadonna A., de Alava E., Dei Tos A.P., Garcia del Muro X., Dufresne A., Eriksson M., Fagioli F., Fedenko A., Ferraresi V., Ferrari A., Gaspar N., Gasperoni S., Gelderblom H., Gouin F., Grignani G., Gronchi A., Haas R., Hassan A.B., Hecker-Nolting S., Hindi N., Hohenberger P., Joensuu H., Jones R.L., Jungels C., Jutte P., Kager L., Kasper B., Kawai A., Kopeckova K., Krakorova D.A., Le Cesne A., Le Grange F., Legius E., Leithner A., Lopez Pousa A., Martin-Broto J., Merimsky O., Messiou C., Miah A.B., Mir O., Montemurro M., Morland B., Morosi C., Palmerini E., Pantaleo M.A., Piana R., Piperno-Neumann S., Reichardt P., Rutkowski P., Safwat A.A., Sangalli C., Sbaraglia M., Scheipl S., Schoffski P., Sleijfer S., Strauss D., Sundby Hall K., Trama A., Unk M., van de Sande M.A.J., van der Graaf W.T.A., van Houdt W.J., Frebourg T., Ladenstein R., Casali P.G., Stacchiotti S., ​Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Public Health Research (PHR), and Man, Biomaterials and Microbes (MBM)

Subjects
medicine.medical_specialty, diagnosis, Medizin, bone sarcoma, Bone Neoplasm, Bone Sarcoma, Follow-Up Studie, 03 medical and health sciences, 0302 clinical medicine, follow-up, medicine, 030304 developmental biology, Osteosarcoma, 0303 health sciences, treatment, business.industry, Sarcoma, Hematology, Guideline, clinical practice guideline, management, 3. Good health, Clinical Practice, diagnosi, Oncology, Diagnosis treatment, 030220 oncology & carcinogenesis, Radiology, business, Human
Abstract

A. Kawai43, K. Kopeckova44, D. A. Krakorova45, A. Le Cesne46, F. Le Grange1, E. Legius47, A. Leithner48, A. Lopez Pousa49, J. Martin-Broto36, O. Merimsky50, C. Messiou51, A. B. Miah52, O. Mir53, M. Montemurro54, B. Morland55, C. Morosi56, E. Palmerini57, M. A. Pantaleo58, R. Piana59, S. Piperno-Neumann60, P. Reichardt61, P. Rutkowski62, A. A. Safwat63, C. Sangalli64, M. Sbaraglia19, S. Scheipl48, P. Schoffski65, S. Sleijfer66, D. Strauss67, K. Sundby Hall13, A. Trama68, M. Unk69, M. A. J. van de Sande70, W. T. A. van der Graaf66,71, W. J. van Houdt72, T. Frebourg73x, R. Ladenstein41z, P. G. Casali2,74z &

Published
2021

2. Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes

Author

Frebourg, T., Lagercrantz, S.B., Oliveira, C. de, Magenheim, R., Hoogerbrugge, N., Ligtenberg, M.J.L., Kets, C.M., and Evans, D.G.

Subjects
Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]
Abstract

Contains fulltext : 225451.pdf (Publisher’s version ) (Open Access)

Published
2020

3. Bone sarcomas: ESMO–EURACAN–GENTURIS–ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up ?

Author

Strauss S.J., Frezza A.M., Abecassis N., Bajpai J., Bauer S., Biagini R., Bielack S., Blay J.Y., Bolle S., Bonvalot S., Boukovinas I., Bovee J.V.M.G., Boye K., Brennan B., Brodowicz T., Buonadonna A., de Álava E., Dei Tos A.P., Garcia del Muro X., Dufresne A., Eriksson M., Fagioli F., Fedenko A., Ferraresi V., Ferrari A., Gaspar N., Gasperoni S., Gelderblom H., Gouin F., Grignani G., Gronchi A., Haas R., Hassan A.B., Hecker-Nolting S., Hindi N., Hohenberger P., Joensuu H., Jones R.L., Jungels C., Jutte P., Kager L., Kasper B., Kawai A., Kopeckova K., Krákorová D.A., Le Cesne A., Le Grange F., Legius E., Leithner A., López Pousa A., Martin-Broto J., Merimsky O., Messiou C., Miah A.B., Mir O., Montemurro M., Morland B., Morosi C., Palmerini E., Pantaleo M.A., Piana R., Piperno-Neumann S., Reichardt P., Rutkowski P., Safwat A.A., Sangalli C., Sbaraglia M., Scheipl S., Schöffski P., Sleijfer S., Strauss D., Sundby Hall K., Trama A., Unk M., van de Sande M.A.J., van der Graaf W.T.A., van Houdt W.J., Frebourg T., Ladenstein R., Casali P.G., Stacchiotti S., EURACAN, and GENTURIS and ERN PaedCan

Subjects
Osteosarcoma, sarcoma, practice guideline, follow up, Humans, Bone Neoplasms, human, bone tumor, Follow-Up Studies
Abstract

[No abstract available]

Published
2021

4. Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

Author

Vos, JR, Giepmans, L, Rohl, C, Geverink, N, Hoogerbrugge, N, Ligtenberg, M, Kets, M, Sijmons, R, Evans, G, Woodward, E, Tischkowitz, M, Maher, E, Steinke-Lange, V, Holinski-Feder, E, Frebourg, T, Houdayer, C, Ferner, RE, Lubinski, J, Ertmanska, K, Lagercrantz, SB, Tham, E, Guillermo, IB, Capella, G, Vidal, JB, Lazaro, C (Conxi), Balmana, J, Bours, V, Legius, E, Wolkenstein, P, Melegh, B, Oliveira, C, Teixeira, M, Poppe, B, Claes, K, Hernandez, HS, Aretz, AWM, Spier, I, Oostenbrink, Rianne, Krajc, M, Blatnik, A, Schrock, E, Peltonen, S, Hietala, M, Ern, G, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Erasmus School of Health Policy & Management, Pediatrics, and Legius, Eric

Subjects
0301 basic medicine, Cancer Research, Pediatrics, Databases, Factual, Colorectal cancer, International Cooperation, 030105 genetics & heredity, Medical Oncology, GUIDELINES, COLORECTAL-CANCER, Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], 0302 clinical medicine, Epidemiology, Medicine and Health Sciences, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Registries, Genetics (clinical), Syndrome, Quality Improvement, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Rare diseases, Europe, Oncology, 030220 oncology & carcinogenesis, Clinical Competence, Hereditary diffuse gastric cancer, medicine.medical_specialty, Short Communication, European Reference Network, behavioral disciplines and activities, Time-to-Treatment, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Cross border health care, SDG 3 - Good Health and Well-being, Genetic, Neoplastic Syndromes, Hereditary, Genetics, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Genetic Testing, Neurofibromatosis, Information Services, business.industry, Information Dissemination, Remote Consultation, Cancer, medicine.disease, PREVENTION, Hereditary cancer, Li–Fraumeni syndrome, business, Rare disease
Abstract

Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients. It is expected that through the ERNs, European patients with a rare disease get access to expert care more often and more quickly, and that research and guideline development will be accelerated resulting in improved diagnostics and therapies. The ERN on Genetic Tumour Risk Syndromes (ERN GENTURIS) aims to improve the identification, genetic diagnostics, prevention of cancer, and treatment of European patients with a genetic predisposition for cancer. The ERN GENTURIS focuses on syndromes such as hereditary breast cancer, hereditary colorectal cancer and polyposis, neurofibromatosis and more rare syndromes e.g. PTEN Hamartoma Tumour Syndrome, Li Fraumeni Syndrome and hereditary diffuse gastric cancer. ispartof: Familial Cancer vol:18 issue:2 pages:281-284 ispartof: location:Netherlands status: published

Published
2019

5. Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood

Author

Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, Foulkes WD, Kratz CP, Kuiper RP, Hansford JR, Salvador-Hernandez H, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, and Plon SE

Abstract

Hereditary gastrointestinal cancer predisposition syndromes have been well characterized, but management strategies and surveillance remain a major challenge, especially in childhood. In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in care of children with a hereditary risk of cancer met to define surveillance strategies and management of children with cancer predisposition syndromes. In this article, we review the current literature in polyposis syndromes that can be diagnosed in childhood and may be associated with an increased incidence of gastrointestinal neoplasms and other cancer types. These disorders include adenomatous polyposis syndromes (APC and MUTYH), juvenile polyposis coli (BMPR1A and SMAD4), Peutz-Jeghers Syndrome (STK11/LKB1), and PTEN hamartoma tumor syndrome (PHTS; PTEN), which can present with a more limited juvenile polyposis phenotype. Herein, the panel of experts provides recommendations for clinical diagnosis, approach to genetic testing, and focus on cancer surveillance recommendations when appropriate during the pediatric period. We also review current controversies on genetic evaluation of patients with hepatoblastoma and indications for surveillance for this tumor. Childhood cancer risks and surveillance associated with disorders involving the mismatch repair genes, including Lynch syndrome and constitutional mismatch repair deficiency (CMMRD), are discussed elsewhere in this series. Clin Cancer Res; 23(13); e107-e14. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.

Published
2017

6. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

Author

Pottier, Corinne, Hannequin, D., Coutant, S., Rovelet-Lecrux, A., Wallon, D., Rousseau, S., Legallic, S., Paquet, C., Bombois, S., Pariente, J., Thomas-Anterion, C., Michon, A., Croisile, B., Etcharry-Bouyx, F., Berr, C., Dartigues, Jean-François, Amouyel, P., Dauchel, H., Boutoleau-Bretonnière, Claire, Thauvin, C., Frebourg, T., Lambert, J.-C., Campion, D., Renseigné, Non, Moreaud, Olivier, Centre National d'Études Spatiales [Toulouse] (CNES), PSA Peugeot Citroën, PSA Peugeot Citroën (PSA), Département international et tropical (INVS), Institut national de veille sanitaire, Neuroendocrinologie et physiopathologie neuronale, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Imagerie cérébrale et handicaps neurologiques (ICHN), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie vasculaire, pathologie neuro-dégénérative et explorations fonctionnelles du système nerveux [Toulouse], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre de recherche sur l'hétéroepitaxie et ses applications (CRHEA), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Santé Publique, d'Epidémiologie et de Développement (ISPED), Université Bordeaux Segalen - Bordeaux 2, EHT0202/002 study group, ExonHit Therapeutics SA, Belgian Institute for Space Aeronomy / Institut d'Aéronomie Spatiale de Belgique (BIRA-IASB), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Psychologie et NeuroCognition (LPNC), Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Unité de Neuropsychologie, and CHU Grenoble

Subjects
Male, SORL1, Mutation, Missense, Biology, medicine.disease_cause, MESH: Membrane Transport Proteins, 03 medical and health sciences, Cellular and Molecular Neuroscience, MESH: LDL-Receptor Related Proteins, 0302 clinical medicine, Alzheimer Disease, PSEN2, medicine, PSEN1, Amyloid precursor protein, Missense mutation, Humans, Exome, Genetic Predisposition to Disease, MESH: Codon, Nonsense, Molecular Biology, Exome sequencing, LDL-Receptor Related Proteins, 030304 developmental biology, Aged, Genetics, MESH: Aged, 0303 health sciences, Mutation, MESH: Mutation, Missense, MESH: Exome, MESH: Humans, Genetic heterogeneity, MESH: Genetic Predisposition to Disease, Membrane Transport Proteins, MESH: Case-Control Studies, MESH: Male, Psychiatry and Mental health, Codon, Nonsense, Case-Control Studies, biology.protein, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, MESH: Female, 030217 neurology & neurosurgery, MESH: Alzheimer Disease
Abstract

International audience; Performing exome sequencing in 14 autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes (amyloid precursor protein (APP), presenilin1 (PSEN1) and presenilin2 (PSEN2)), we found that in five patients, the SORL1 gene harbored unknown nonsense (n=1) or missense (n=4) mutations. These mutations were not retrieved in 1500 controls of same ethnic origin. In a replication sample, including 15 ADEOAD cases, 2 unknown non-synonymous mutations (1 missense, 1 nonsense) were retrieved, thus yielding to a total of 7/29 unknown mutations in the combined sample. Using in silico predictions, we conclude that these seven private mutations are likely to have a pathogenic effect. SORL1 encodes the Sortilin-related receptor LR11/SorLA, a protein involved in the control of amyloid beta peptide production. Our results suggest that besides the involvement of the APP and PSEN genes, further genetic heterogeneity, involving another gene of the same pathway is present in ADEOAD.

Published
2012

8. The human tumour suppressor gene p53 is alternatively spliced in normal cells

Author

jean-michel flaman, Waridel F, Estreicher A, Vannier A, Jm, Limacher, Gilbert D, Iggo R, and Frebourg T

Subjects
Transcription, Genetic, Blotting, Western, Molecular Sequence Data, Saccharomyces cerevisiae, Lymphocyte Activation, Transfection, Polymerase Chain Reaction, Cell Line, Mice, Reference Values, Animals, Humans, Amino Acid Sequence, Lymphocytes, RNA, Messenger, Cloning, Molecular, Luciferases, Cells, Cultured, DNA Primers, Mammals, Base Sequence, Exons, Genes, p53, Recombinant Proteins, Alternative Splicing, Tetradecanoylphorbol Acetate, Tumor Suppressor Protein p53
Abstract

Alternative splicing affecting the p53 carboxy-terminus has previously been described in mouse but not in normal human cells. We report here the detection in normal human lymphocytes of an alternatively spliced form of human p53 mRNA containing an additional 133 bp exon derived from intron 9. This splice variant encodes a truncated protein of 341 amino-acids including 10 new amino-acids derived from the novel exon. The truncated protein, which lacks part of the p53 tetramerization domain, fails to bind DNA in vitro and has a transcriptional defect in vivo in both yeast and mammalian cells. Quantitative RT-PCR experiments suggest that the alternatively spliced form is only present in significant amounts in quiescent cells. Considering the numerous functions ascribed to the carboxy-terminus of the p53 protein, this splice variant may have important implications for the biological role of p53 in normal cells.

Published
1996

9. Alternative splicing of MLH1 messenger RNA in human normal cells

Author

Charbonnier F, Martin C, michel scotté, Sibert L, Moreau V, and Frebourg T

Subjects
DNA, Complementary, Base Sequence, Transcription, Genetic, Molecular Sequence Data, Gene Expression, Nuclear Proteins, Polymerase Chain Reaction, Neoplasm Proteins, Alternative Splicing, Humans, Amino Acid Sequence, Lymphocytes, RNA, Messenger, Carrier Proteins, Codon, MutL Protein Homolog 1, Cells, Cultured, Adaptor Proteins, Signal Transducing
Abstract

The hMLH1 protein, composed of 756 amino acids, is the human homologue of the bacterial DNA mismatch repair protein MutL, and germ line mutations of the hMLH1 gene have been identified in kindreds with hereditary nonpolyposis colorectal cancer. We have detected three alternatively spliced forms of hMLH1 mRNA in normal lymphocytes and tissues. One of the spliced forms lacks the coding region of hMLH1 from codons 227 to 295 and the two other transcripts are predicted to encode two truncated proteins retaining the 264 and 226 N-terminal amino acids of hMLH1, respectively. The biological significance of this alternative splicing remains to be established.

Published
1995

11. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

Author

Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Jm, Limacher, Jc, Saurin, Alain PUISIEUX, Olschwang S, and Frebourg T

Subjects
Family Health, DNA Repair, Models, Genetic, Base Pair Mismatch, Nuclear Proteins, Exons, Colorectal Neoplasms, Hereditary Nonpolyposis, Polymerase Chain Reaction, Introns, Neoplasm Proteins, DNA-Binding Proteins, MutS Homolog 2 Protein, Gene Duplication, Proto-Oncogene Proteins, Humans, Carrier Proteins, MutL Protein Homolog 1, Gene Deletion, Adaptor Proteins, Signal Transducing
Abstract

Large genomic deletions within the mismatch repair MLH1 and MSH2 genes have been identified in families with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, and their detection represents a technical problem. To facilitate their detection, we developed a simple semiquantitative procedure based on the multiplex PCR of short fluorescent fragments. This method allowed us to confirm in HNPCC families three known deletions of MLH1 or MSH2 and to detect in 19 HNPCC families, in which analysis of mismatch repair genes using classical methods had revealed no alteration, a deletion of exon 5 and a duplication of MSH2 involving exons 9 and 10. The presence of such duplications, the frequency of which is probably underestimated, must be considered in HNPCC families in which conventional screening methods have failed to detect mutations.

12. Li-Fraumeni syndrome: update, new data and guidelines for clinical management

Author

Frebourg, T., Ebel, A., Bonaiti-Pellie, C., Brugieres, L., Berthet, P., Brigitte Bressac-de Paillerets, Chevrier, A., Chompret, A., Cohen-Haguenauer, O., Delattre, O., Feingold, J., Feunteun, J., Frappaz, D., Fricker, J. P., Gesta, P., Jonveaux, P., Kalifa, C., Lasset, C., Leheup, B., Limacher, J. M., Longy, M., Nogues, C., Oppenheim, D., Sommelet, D., Soubrier, F., Stoll, C., Stoppa-Lyonnet, D., and Tristant, H.

Subjects
Adult, Male, Age Factors, Genetic Counseling, Protein Serine-Threonine Kinases, Genes, p53, Li-Fraumeni Syndrome, Checkpoint Kinase 2, Mutation, Practice Guidelines as Topic, Humans, Female, Genetic Predisposition to Disease, Gene Silencing, Phosphorylation, Child, Protein Kinases, Mammography
Abstract

The Li-Fraumeni syndrome (LFS) is an inherited form of cancer, affecting children and young adults, and characterized by a wide spectrum of tumors, including soft-tissue and bone sarcomas, brain tumours, adenocortical tumours and premenopausal breast cancers. In most of the families, LFS results from germline mutations of the tumor suppressor TP53 gene encoding a transcriptional factor able to regulate cell cycle and apoptosis when DNA damage occurs. Recently, germline mutations of hCHK2 encoding a kinase, regulating cell cycle via Cdc25C and TP53, were identified in affected families. The LFS working group recommendations are the following: (i) positive testing (screening for a germline TP53 mutation in a patient with a tumor) can be offered both to children and adults in the context of genetic counseling associated to psychological support, to confirm the diagnosis of LFS on a molecular basis. This will allow to offer to the patient a regular clinical review in order to avoid a delay to the diagnosis of another tumor; (ii) the 3 indications for positive testing are: a proband with a tumor belonging to the narrow LFS spectrum and developed before age 36 and, at least, first- or second-degree relative with a LFS spectrum tumor, before age 46, or a patient with multiple primary tumors, 2 of which belonging to the narrow LFS spectrum, the first being developed before 36 or a child with an adenocortical tumour; (iii) presymptomatic testing must be restricted to adults; (iv) the young age of onset of the LFS tumors the prognosis of some tumors, the impossibility to ensure an efficient early detection and the risk for mutation carriers to develop multiple primary tumors justify that prenatal diagnosis might be considered in affected families.

14. [Genetics of Alzheimer's disease]

Author

Hannequin D, Campion D, Dumanchin C, Martinez M, Agid Y, Françoise Clerget-Darpoux, Frebourg T, and Brice A

Subjects
Genetic Markers, Apolipoproteins E, Alzheimer Disease, Risk Factors, Apolipoprotein E4, Humans
Abstract

This review reports epidemiological data and biological mechanisms about the Apolipoprotein E gene allele epsilon 4 that is a major risk factor for Alzheimer's disease (AD). The second part describes the three genes, amyloid precusor protein (APP), presenilin 1 (PS1) and presenilin 2 (PS2) genes, which when mutated cause early-onset autosomal dominant AD. Mutations on each of these genes have as a common consequence elevated levels of A beta (42,3).

17. Simple protocol for rapid, direct sequencing of immunoglobulin variable-region genes

Author

Jovelin F, Gilbert D, Brard F, Bernardi T, Patrice Marche, Frebourg T, and Tron F

Subjects
Electrophoresis, Agar Gel, Mice, DNA, Complementary, Base Sequence, Glycoside Hydrolases, Molecular Sequence Data, Immunoglobulin Variable Region, Animals, RNA-Directed DNA Polymerase, Sequence Analysis, DNA, Polymerase Chain Reaction

19. The French Society of Dermatology. Joint session between the French Society of Pediatric Dermatology, the French Society of Dermatology and the British Society of Paediatric Dermatology | Société Française de Dermatologie: Séance conjointe entre la Société Française de Dermatologie Pédiatrique, la Société Française de Dermatologie et la British Society of Paediatric Dermatology

Author

Wierzbicka, E., Robert, M., Herbreteau, D., Lorette, G., Jury, C. S., Mealyea, M., Mchenry, P., Lever, R., Wallach, D., Coste, J., Tilles, G., Taïeb, A., Debons, M., Bernier, C., Sebastien Barbarot, Chavigny, J. M., Le Fol, C., Bauer, D., Anton, M., Mollé, I., Gagnayre, R., Stalder, J. F., Carrie, E., Hadj-Rabia, S., Bourdon-Lanoy, E., Pruskowski, A., Hamel, D., Prost, Y., Casanova, J. L., Bodemer, C., Boutet, A., Mechinaud, F., Mazereeuw-Hautier, J., Wilson, L., Atherton, D., Harper, J. I., Titeux, M., Prost-Squarcioni, C., Hovnanian, A., Onyon, C., Goodyear, H., Giacchero, D., Allieri-Rosenthal, M., Bouillet, L., Ortonne, J. P., Lacour, J. P., Mak, R. K. H., Paige, D., Leigh, I. M., Kelsell, D. P., O Toole, E. A., Larregue, M., Biedere, C., Lhuillier, N., Leverger, G., Descargues, P., Lesueur, F., Bonafé, J., Fischer, J., Frot, A. S., Piloquet, H., Lamant, L., Cassagnau, E., Morice, F. M., Leaute-Labreze, C., Boralevi, F., Lepreux, S., Lang-Bandon, J., Webber, N. K., Paige, D. G., Galliot-Repkat, C., Olivier-Faivre, L., Couillault, G., Piard, F., Bougeard, G., Frebourg, T., Vabres, P., Gass, J., Firth, H., Burrows, N., Corradini, N., Rouse, P., Sidwell, R. U., Jiskoot, Green, J. S. A., Mowbray, M., Schofield, O. M. V., Viseux, V., Devoldere, C., El Hanache, A., Chaby, G., Morin, G., Lok, C., Vourc H, M., and Thomas, C.

20. Apolipoprotein E and Alzheimer disease: Genotype-specific risks by age and sex

Author

Bickeböller, H., Campion, D., Brice, A., Amouyel, P., Hannequin, D., Didierjean, O., Penet, C., Martin, C., Jordi Pérez-Tur, Michon, A., Dubois, B., Ledoze, F., Thomas-Anterion, C., Pasquier, F., Puel, M., Demonet, J. -F, Moreaud, O., Babron, M. -C, Meulien, D., Guez, D., Chartier-Harlin, M. -C, Frebourg, T., Agid, Y., Martinez, M., and Clerget-Darpoux, F.

Subjects
Aged, 80 and over, Male, Aging, Heterozygote, Sex Characteristics, Genotype, Apolipoprotein E2, Apolipoprotein E4, Homozygote, Apolipoprotein E3, Middle Aged, Apolipoproteins E, Alzheimer Disease, Risk Factors, Case-Control Studies, mental disorders, Odds Ratio, Humans, lipids (amino acids, peptides, and proteins), Female, Genetic Predisposition to Disease, Age of Onset, Research Article, Aged
Abstract

The distribution of apolipoprotein E (APOE) genotypes as a function of age and sex has been examined in a French population of 417 Alzheimer disease (AD) patients and 1,030 control subjects. When compared to the APOE epsilon3 allele, an increased risk associated with the APOE epsilon4 allele (odds ratio [OR] [epsilon4] = 2.7 with 95% confidence interval [CI] = 2.0-3.6; P < .001) and a protective effect of the APOE epsilon2 allele (OR[epsilon2] = 0.5 with 95% CI = 0.3-0.98; P = .012) were retrieved. An effect of the epsilon4 allele dosage on susceptibility was confirmed (OR[epsilon4/epsilon4] vs. the epsilon3/epsilon3 genotype = 11.2 [95% CI = 4.0-31.6]; OR[epsilon3/epsilon4] vs. the epsilon3/epsilon3 genotype = 2.2 [95% CI = 1.5-3.5]). The frequency of the epsilon4 allele was lower in male cases than in female cases, but, since a similar difference was found in controls, this does not lead to a difference in OR between sex. ORs for the epsilon4 allele versus the epsilon3 allele, OR(epsilon4), were not equal in all age classes: OR(epsilon4) in the extreme groups with onset at < 60 years or > 79 years were significantly lower than those from the age groups 60-79 years. In epsilon3/epsilon4 individuals, sex-specific lifetime risk estimates by age 85 years (i.e., sex-specific penetrances by age 85 years) were 0.14 (95% CI 0.04-0.30) for men and 0.17 (95% CI 0.09-0.28) for women.

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