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1. Gastrointestinal stromal tumours: ESMO–EURACAN–GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up

Author

Casali, P.G., Blay, J.Y., Abecassis, N., Bajpai, J., Bauer, S., Biagini, R., Bielack, S., Bonvalot, S., Boukovinas, I., Bovee, J.V.M.G., Boye, K., Brodowicz, T., Buonadonna, A., De Álava, E., Dei Tos, A.P., Del Muro, X.G., Dufresne, A., Eriksson, M., Fedenko, A., Ferraresi, V., Ferrari, A., Frezza, A.M., Gasperoni, S., Gelderblom, H., Gouin, F., Grignani, G., Haas, R., Hassan, A.B., Hindi, N., Hohenberger, P., Joensuu, H., Jones, R.L., Jungels, C., Jutte, P., Kasper, B., Kawai, A., Kopeckova, K., Krákorová, 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., 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., Strauss, S.J., Hall, K Sundby, Trama, A., Unk, M., van de Sande, M.A.J., van der Graaf, W.T.A., van Houdt, W.J., Frebourg, T., Gronchi, A., and Stacchiotti, S.

Published
2021
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2. LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1

Author

Von Kalle, C., Schmidt, M., McCormack, M. P., Wulffraat, N., Leboulch, P., Lim, A., Osborne, C. S., Pawliuk, R., Morillon, E., Sorensen, R., Forster, A., Fraser, P., Cohen, J. I., Alexander, I., Wintergerst, U., Frebourg, T., Aurias, A., Stoppa-Lyonnet, D., Romana, S., Radford-Weiss, I., Gross, F., Valensi, F., Delabesse, E., Macintyre, E., Sigaux, F., Soulier, J., Leiva, L. E., Wissler, M., Prinz, C., Rabbitts, T. H., Le Deist, F., Fischer, A., and Cavazzana-Calvo, M.

Published
2003

3. Gastrointestinal stromal tumours

Author

Casali, P.G., Blay, J.Y., Abecassis, N., Bajpai, J., Bauer, S., Biagini, R., Bielack, S., Bonvalot, S., Boukovinas, I., Bovee, J.V.M.G., Boye, K., Brodowicz, T., Buonadonna, A., Alava, E. de, Tos, A.P. dei, Muro, X.G. del, Dufresne, A., Eriksson, M., Fedenko, A., Ferraresi, V., Ferrari, A., Frezza, A.M., Gasperoni, S., Gelderblom, H., Gouin, F., Grignani, G., Haas, R., Hassan, A.B., Hindi, N., Hohenberger, P., Joensuu, H., Jones, R.L., Jungels, C., Jutte, P., Kasper, B., Kawai, A., Kopeckova, K., Krakorova, D.A., Cesne, A. le, Grange, F. le, Legius, E., Leithner, A., Lopez-Pousa, A., Martin-Broto, J., Merimsky, O., Messiou, C., Miah, A.B., Mir, O., Montemurro, M., 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., Strauss, S.J., 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., Gronchi, A., Stacchiotti, S., ESMO Guidelines Comm, EURACAN, GENTURIS, Casali P.G., Blay J.Y., Abecassis N., Bajpai J., Bauer S., Biagini R., Bielack S., Bonvalot S., Boukovinas I., Bovee J.V.M.G., Boye K., Brodowicz T., Buonadonna A., De Alava E., Dei Tos A.P., Del Muro X.G., Dufresne A., Eriksson M., Fedenko A., Ferraresi V., Ferrari A., Frezza A.M., Gasperoni S., Gelderblom H., Gouin F., Grignani G., Haas R., Hassan A.B., Hindi N., Hohenberger P., Joensuu H., Jones R.L., Jungels C., Jutte P., 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., 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., Strauss S.J., Hall K.S., Trama A., Unk M., van de Sande M.A.J., van der Graaf W.T.A., van Houdt W.J., Frebourg T., Gronchi A., Stacchiotti S., Medical Oncology, ​Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Public Health Research (PHR), and Man, Biomaterials and Microbes (MBM)

Subjects
GIST, clinical practice guidelines, gastrointestinal stromal tumour, surgery, tyrosine kinase inhibitor, Oncology, Medizin, Hematology, clinical practice guideline
Abstract

Gastrointestinal stromal tumours (GISTs) are malignant mesenchymal tumours with a variable clinical behaviour, marked by differentiation towards the interstitial cells of Cajal.1 GISTs belong to the family of soft tissue sarcomas (STSs) but are treated separately due to their peculiar histogenesis, clinical behaviour and specific therapy. This European Society for Medical Oncology (ESMO)–European Reference Network for Rare Adult Solid Cancers (EURACAN)–European Reference Network for Genetic Tumour Risk Syndromes (GENTURIS) Clinical Practice Guideline (CPG) will cover GISTs while other STSs are covered in the ESMO–EURACAN–European Reference Network for Paediatric Oncology (ERN PaedCan)–GENTURIS STS CPG.

Published
2022

5. 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

6. Recommandations pour le diagnostic de prédisposition génétique au mélanome cutané et pour la prise en charge des personnes à risque

Author

Avril, M.-F., Bahadoran, P., Cabaret, O., Caron, O., de la Fouchardière, A., Demenais, F., Desjardins, L., Frébourg, T., Hammel, P., Leccia, M.-T., Lesueur, F., Mahé, E., Martin, L., Maubec, E., Remenieras, A., Richard, S., Robert, C., Soufir, N., Stoppa-Lyonnet, D., Thomas, L., Vabres, P., and Bressac- de Paillerets, B.

Published
2015
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7. 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

Author

Le Guennec, K, Quenez, O, Nicolas, G, Wallon, D, Rousseau, S, Richard, A-C, Alexander, J, Paschou, P, Charbonnier, C, Bellenguez, C, Grenier-Boley, B, Lechner, D, Bihoreau, M-T, Olaso, R, Boland, A, Meyer, V, Deleuze, J-F, Amouyel, P, Munter, H M, Bourque, G, Lathrop, M, Frebourg, T, Redon, R, Letenneur, L, Dartigues, J-F, Martinaud, O, Kalev, O, Mehrabian, S, Traykov, L, Ströbel, T, Le Ber, I, Caroppo, P, Epelbaum, S, Jonveaux, T, Pasquier, F, Rollin-Sillaire, A, Génin, E, Guyant-Maréchal, L, Kovacs, G G, Lambert, J-C, Hannequin, D, Campion, D, and Rovelet-Lecrux, A

Published
2017
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8. Soft tissue and visceral sarcomas

Author

Gronchi, A., Miah, A.B., DeiTos, A.P., 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., DeAlava, E., Muro, X.G. del, Dufresne, A., Eriksson, M., Fagioli, F., Fedenko, A., Ferraresi, V., Ferrari, A., Frezza, A.M., Gasperoni, S., Gelderblom, H., Gouin, F., Grignani, G., 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, LeGrange, F., Legius, E., Leithner, A., Lopez-Pousa, A., Martin-Broto, J., Merimsky, O., Messiou, C., 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., Strauss, S., SundbyHall, K., Trama, A., Unk, M., VandeSande, M.A.J., VanderGraaf, W.T.A., Houdt, W.J. van, Frebourg, T., Casali, P.G., Stacchiotti, S., ESMO Guidelines Comm, EURACAN, GENTURIS, ​Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Public Health Research (PHR), Man, Biomaterials and Microbes (MBM), Gronchi A., Miah A.B., Dei Tos A.P., 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., Del Muro X.G., Dufresne A., Eriksson M., Fagioli F., Fedenko A., Ferraresi V., Ferrari A., Frezza A.M., Gasperoni S., Gelderblom H., Gouin F., Grignani G., 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., 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., Strauss S., 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., Casali P.G., and Stacchiotti S.

Subjects
sarcoma, uterine sarcoma, treatment, diagnosis, desmoid, Medizin, Sarcoma, Soft Tissue Neoplasms, Hematology, Clinical Practice Guideline, Soft tissue sarcomas, retroperitoneal sarcoma, Retroperitoneal Sarcoma, soft tissue sarcomas, Follow-Up Studie, Desmoid, Uterine Sarcoma, follow-up, management, Oncology, soft tissue sarcoma, Human
Abstract

ispartof: ANNALS OF ONCOLOGY vol:32 issue:11 pages:1348-1365 ispartof: location:England status: published

Published
2021

9. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

Author

Nicolas, G, Charbonnier, C, Wallon, D, Quenez, O, Bellenguez, C, Grenier-Boley, B, Rousseau, S, Richard, A-C, Rovelet-Lecrux, A, Le Guennec, K, Bacq, D, Garnier, J-G, Olaso, R, Boland, A, Meyer, V, Deleuze, J-F, Amouyel, P, Munter, H M, Bourque, G, Lathrop, M, Frebourg, T, Redon, R, Letenneur, L, Dartigues, J-F, Génin, E, Lambert, J-C, Hannequin, D, and Campion, D

Published
2016
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11. Gastrointestinal stromal tumours: ESMO–EURACAN–GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up

Author

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

Published
2022
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12. 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

13. Reply to Kratz et al

Author

Frebourg, T, Lagercrantz, SB, Oliveira, C, Magenheim, R, Evans, DGR, Hoogerbrugge, N, Ligtenberg, M, Oostenbrink, Rianne, Sijmons, R, Evans, G, Woodward, E, Peltonen, S, Hietala, M, and Pediatrics

Subjects
Gynecology, medicine.medical_specialty, business.industry, MEDLINE, Li-Fraumeni Syndrome, Risk factors, Correspondence, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], medicine, Genetics, Humans, Tumor Suppressor Protein p53, business, Genetics (clinical), Germ-Line Mutation
Abstract

Contains fulltext : 229308.pdf (Publisher’s version ) (Open Access)

Published
2020

15. Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

Author

Pujol, P., Lyonnet, D. Stoppa, Frebourg, T., Blin, J., Picot, M. C., Lasset, C., Dugast, C., Berthet, P., de Paillerets, B. Bressac, Sobol, H., Grandjouan, S., Soubrier, F., Buecher, B., Guimbaud, R., Lidereau, R., Jonveaux, P., Houdayer, C., Giraud, S., Olschwang, S., Nogue, E., Galibert, V., Bara, C., Nowak, F., Khayat, D., and Nogues, C.

Published
2013
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19. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1

Author

Hacein-Bey-Abina, S., Von Kalle, C., Schmidt, M., McCormack, M.P., Wulffraat, N., Leboulch, P., Lim, A., Osborne, C.S., Pawliuk, R., Morillon, E., Sorensen, R., Forster, A., Fraser, P., Cohen, J.I., de Saint Basile, G., Alexander, I., Wintergerst, U., Frebourg, T., Aurias, A., Stoppa-Lyonnet, D., Romana, S., Radford-Weiss, I., Gross, F., Valensi, F., Delabesse, E., Macintyre, E., Sigaux, F., Soulier, J., Leiva, L.E., Wissler, M., Prinz, C., Rabbitts, T.H., Le Deist, F., Fischer, A., and Cavazzana-Calvo, M.

Subjects
Physiological aspects, Complications and side effects, Research, Gene therapy -- Research -- Physiological aspects, Retroviruses -- Research -- Physiological aspects
Abstract

Ex vivo retrovirus-mediated gene transfer into hematopoietic progenitor cells has been shown to be an efficient strategy to correct inherited diseases of the lymphohematopoietic system, provided that a strong selective [...], We have previously shown correction of X-linked severe combined immunodeficiency [SCID-X1, also known as γ chain (γc) deficiency] in 9 out of 10 patients by retrovirus-mediated γc gene transfer into autologous CD34 bone marrow cells. However, almost 3 years after gene therapy, uncontrolled exponential clonal proliferation of mature T cells (with γδ+ or αβ+ T cell receptors) has occurred in the two youngest patients. Both patients' clones showed retrovirus vector integration in proximity to the LMO2 proto-oncogene promoter, leading to aberrant transcription and expression of LMO2. Thus, retrovirus vector insertion can trigger deregulated premalignant cell proliferation with unexpected frequency, most likely driven by retrovirus enhancer activity on the LMO2 gene promoter.

Published
2003

22. 1007P cfDNA and ctDNA variations are predictive of disease progression to conventional transarterial chemoembolization (cTACE) in patients with hepatocellular carcinoma (HCC)

Author

Sefrioui, D., primary, Verdier, V., additional, Savoye-Collet, C., additional, Beaussire, L., additional, Ghomadi, S., additional, Gangloff, A., additional, Goria, O., additional, Riachi, G., additional, Montialoux, H., additional, Schwarz, L., additional, Tuech, J-J., additional, Frebourg, T., additional, Michel, P., additional, Vasseur, N. Sarafan, additional, and Di Fiore, F., additional

Published
2020
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24. Unusual phenotypic alteration of beta amyloid precursor protein (beta APP) maturation by a new Val-715 -> Met beta APP-770 mutation responsible for probable early-onset Alzheimer's disease

Author

Ancolio, K., Dumanchin, C., Barelli, H., Warter, J.M., Brice, A., Campion, D., Frebourg, T., and Checler, F.

Subjects
Alzheimer's disease -- Research, Gene expression -- Research, Mutation (Biology) -- Research, Phenotype -- Research, Proteins -- Research, Science and technology
Abstract

We have identified a novel [Beta] amyloid precursor protein ([Beta]APP) mutation (V715M-[Beta]APP770) that cosegregates with early-onset Alzheimer's disease (AD) in a pedigree. Unlike other familial AD-linked [Beta]APP mutations reported to date, overexpression of V715M-[Beta]APP in human HEK293 cells and murine neurons reduces total A[Beta] production and increases the recovery of the physiologically secreted product, APP[Alpha]. V715M-[Beta]APP significantly reduces A[Beta]40 secretion without affecting A[Beta]42 production in HEK293 cells. However, a marked increase in N-terminally truncated A[Beta] ending at position 42 (x-42A[Beta]) is observed, whereas its counterpart x-40A[Beta] is not affected. These results suggest that, in some cases, familial AD may be associated with a reduction in the overall production of A[Beta] but may be caused by increased production of truncated forms of A[Beta] ending at the 42 position.

Published
1999

25. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Author

Le Meur, N., Holder-Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati-Bonneau, P., Guichet, A., charollais, A., Journel, H., Auvin, S., Boucher, C., Kerckaert, J.-P., David, V., Manouvrier-Hanu, S., Saugier-Veber, P., Frebourg, T., Dubourg, C., Andrieux, J., and Bonneau, D.

Subjects
Mental retardation -- Genetic aspects, Mental retardation -- Research, Epilepsy -- Genetic aspects, Epilepsy -- Research, Gene mutations -- Research, Comparative genomic hybridization -- Usage, Comparative genomic hybridization -- Research, Health
Published
2010

28. 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

30. Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families

Author

Bougeard, G., Sesboue, R., Baert-Desurmont, S., Vasseur, S., Martin, C., Tinat, J., Brugieres, L., Chompret, A., Bressac-de Paillerets, B., Stoppa-Lyonnet, D., Bonaiti-Pellie, C., and Frebourg, T.

Subjects
Li-Fraumeni syndrome -- Genetic aspects, Li-Fraumeni syndrome -- Development and progression, Li-Fraumeni syndrome -- Research, Tumor suppressor genes -- Analysis, Gene mutations -- Analysis, Health
Published
2008

31. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

Author

Bonnet, C., Krieger, S., Vezain, M., Rousselin, A., Tournier, I., Martins, A., Berthet, P., Chevrier, A., Dugast, C., Layet, V., Rossi, A., Lidereau, R., Frebourg, T., Hardouin, A., and Tosi, M.

Subjects
BRCA mutations -- Identification and classification, Genetic variation -- Analysis, Polymerase chain reaction -- Usage, Health
Published
2008

34. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

Author

Frebourg, T, Oliveira, C, Hochain, P, Karam, R, Manouvrier, S, Graziadio, C, Vekemans, M, Hartmann, A, Baert-Desurmont, S, Alexandre, C, Dumoulin, S Lejeune, Marroni, C, Martin, C, Castedo, S, Lovett, M, Winston, J, Machado, J C, Attié, T, Jabs, E W, Cai, J, Pellerin, Ph, Triboulet, J P, Scotte, M, Le Pessot, F, Hedouin, A, Carneiro, F, Blayau, M, and Seruca, R

Published
2006

40. A simple p53 functional assay for screening cell lines, blood, and tumors

Author

Flaman, J.-M., Frebourg, T., Moreau, V., Charbonnier, F., Martin, C., Chappuis, P., Sappino, A.-P., Limacher, J.-M., Bron, L., Benhattar, J., Tada, M., Van Meir, E.G., Estreicher, A., and Iggo, R.D.

Subjects
Tissues -- Analysis, Mutation (Biology) -- Methods, Tumors -- Testing, Cell lines -- Testing, Blood -- Testing, Science and technology
Abstract

The p53 functional assay can detect the mutation in blood samples, tumors and cell lines. The test differentiates the inactivating mutation from functionally silent mutations. The tumor specimen contaminated with normal tissue can be detected for mutations. Detecting the temperature-sensitive mutant and recovery of mutants from yeast are the advantages of the test. The disadvantages of functional assay in yeast are the requirement of high quality p53 RNA for a single step test and the inability to detect poorly expressed mutant alleles.

Published
1995

45. 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

47. Diagnosis of Constitutional Mismatch Repair-deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

Author

Bodo, S., Colas, C., Buhard, O., Collura, A., Tinat, J., Lavoine, N., Guilloux, A., Chalastanis, A., Lafitte, P., Coulet, F., Buisine, M.P., Ilencikova, D., Ruiz-Ponte, C., Kinzel, M., Grandjouan, S., Brems, H.I., Lejeune, S., Blanche, H., Wang, Q., Caron, O., Cabaret, O., Syrcek, M.L., Vidaud, D., Parfait, B., Verloes, A., Knappe, U.J., Soubrier, F., Mortemousque, I., Leis, A., Auclair-Perrossier, J., Frebourg, T., Flejou, J.F., Entz-Werle, N., Leclerc, J., Malka, D., Cohen-Haguenauer, O., Goldberg, Y., Gerdes, A.M., Fedhila, F., Mathieu-Dramard, M., Lin, R.H., Wafaa, B., Gauthier-Villars, M., Bourdeaut, F., Sheridan, E., Vasen, H., Brugieres, L., Wimmer, K., Muleris, M., Duva, A., and European Consortium Care CMMRD

Subjects
Male, Heredity, DNA Mutational Analysis, Predisposition, Bioinformatics, PMS2, Lymphocytes, Mismatch Repair Endonuclease PMS2, Adenosine Triphosphatases, Tumor, Colon Cancer, Brain Neoplasms, Gastroenterology, Nuclear Proteins, Lynch syndrome, DNA-Binding Proteins, MutS Homolog 2 Protein, Phenotype, DNA mismatch repair, Female, Microsatellite Instability, Colorectal Neoplasms, MutL Protein Homolog 1, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Biology, MLH1, Transfection, Methylation, Young Adult, Germline mutation, Neoplastic Syndromes, Hereditary, Predictive Value of Tests, medicine, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Genetic Testing, Antineoplastic Agents, Alkylating, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Hepatology, Microsatellite instability, Reproducibility of Results, medicine.disease, Functional Tests, HCT116 Cells, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, MSH6, DNA Repair Enzymes, MSH2, Drug Resistance, Neoplasm, Case-Control Studies, Cancer research, Caco-2 Cells, Multiplex Polymerase Chain Reaction
Abstract

Background & Aims Patients with bi-allelic germline mutations in mismatch repair (MMR) genes ( MLH1 , MSH2 , MSH6 , or PMS2 ) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD). This syndrome is characterized by early-onset colorectal cancers, lymphomas or leukemias, and brain tumors. There is no satisfactory method for diagnosis of CMMRD because screens for mutations in MMR genes are noninformative for 30% of patients. MMR-deficient cancer cells are resistant to genotoxic agents and have microsatellite instability (MSI), due to accumulation of errors in repetitive DNA sequences. We investigated whether these features could be used to identify patients with CMMRD. Methods We examined MSI by PCR analysis and tolerance to methylating or thiopurine agents (functional characteristics of MMR-deficient tumor cells) in lymphoblastoid cells (LCs) from 3 patients with CMMRD and 5 individuals with MMR-proficient LCs (controls). Using these assays, we defined experimental parameters that allowed discrimination of a series of 14 patients with CMMRD from 52 controls (training set). We then used the same parameters to assess 23 patients with clinical but not genetic features of CMMRD. Results In the training set, we identified parameters, based on MSI and LC tolerance to methylation, that detected patients with CMMRD vs controls with 100% sensitivity and 100% specificity. Among 23 patients suspected of having CMMRD, 6 had MSI and LC tolerance to methylation (CMMRD highly probable), 15 had neither MSI nor LC tolerance to methylation (unlikely to have CMMRD), and 2 were considered doubtful for CMMRD based on having only 1 of the 2 features. Conclusion The presence of MSI and tolerance to methylation in LCs identified patients with CMMRD with 100% sensitivity and specificity. These features could be used in diagnosis of patients.

Published
2015

48. Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

Author

Kohonen-Corish, M.R.J., Macrae, F., Genuardi, M., Aretz, S., Bapat, B., Bernstein, I.T., Burn, J., Cotton, R.G.H., Dunnen, J.T. den, Frebourg, T., Greenblatt, M.S., Hofstra, R., Holinski-Feder, E., Lappalainen, I., Lindblom, A., Maglott, D., Moller, P., Morreau, H., Moslein, G., Sijmons, R., Spurdle, A.B., Tavtigian, S., Tops, C.M.J., Weber, T.K., Wind, N. de, Woods, M.O., Contributors InSiGHT-HVP Workshop, Faculteit Medische Wetenschappen/UMCG, and Guided Treatment in Optimal Selected Cancer Patients (GUTS)

Subjects
MISMATCH-REPAIR GENES, COLORECTAL-CANCER, SEQUENCE VARIANTS, CLASSIFICATION, MUTATIONS, DATABASE, MLH1, Colorectal cancer, Human Variome Project, Library science, HNPCC, Biology, Settore MED/03 - GENETICA MEDICA, Data submission, Bioinformatics, Genetics, medicine, Pilot program, cancer, Pathogenicity, Genetics (clinical), colon, Cancer, medicine.disease, Tumor Pathology, variant, HVP, InSiGHT
Abstract

The Human Variome Project (HVP) has established a pilot program with the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) to compile all inherited variation affecting colon cancer susceptibility genes. An HVP-InSiGHT Workshop was held on May 10, 2010, prior to the HVP Integration and Implementation Meeting at UNESCO in Paris, to review the progress of this pilot program. A wide range of topics were covered, including issues relating to genotype-phenotype data submission to the InSiGHT Colon Cancer Gene Variant Databases (chromium.liacs.nl/LOVD2/colon_cancer/home.php). The meeting also canvassed the recent exciting developments in models to evaluate the pathogenicity of unclassified variants using in silico data, tumor pathology information, and functional assays, and made further plans for the future progress and sustainability of the pilot program. Hum Mutat 32: 491-494, 2011. (C) 2011 Wiley-Liss, Inc.

Published
2011

49. THE LANDSCAPE OF SOMATIC MUTATIONS OF PRIMARY CUTANEOUS DIFFUSE LARGE B-CELL LYMPHOMA, LEG-TYPE

Author

Jardin, F., primary, Mareschal, S., additional, Pham-Ledard, A., additional, Viailly, P., additional, Carlotti, M., additional, Dubois, S., additional, Bertrand, P., additional, Maingonnat, C., additional, Bohers, E., additional, Ruminy, P., additional, Tournier, I., additional, Courville, P., additional, Duval, A., additional, Andrieu, E., additional, Verneuil, L., additional, Fontanillles, M., additional, Vergier, B., additional, Tilly, H., additional, Joly, P., additional, Frebourg, T., additional, Beylot-Barry, M., additional, and Merlio, J., additional

Published
2017
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50. Diagnostic performance of liquid biopsy for pancreatic solid lesion as alternative to endoscopic ultrasound-guided fine needle aspiration (EUS-FNA)

Author

Sefrioui, D., primary, Blanchard, F., additional, Basile, P., additional, Toure, E., additional, Dolfus, C., additional, Beaussire, L., additional, Vasseur, N., additional, Perdrix, A., additional, Gangloff, A., additional, Schwarz, L., additional, Clatot, F., additional, Tuech, J.-J., additional, Sabourin, J.-C., additional, Frebourg, T., additional, Michel, P., additional, and Di Fiore, F., additional

Published
2016
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