Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations
Golmard, L, Delnatte, C, Laugé, A, Moncoutier, V, Lefol, C, Abidallah, K, Tenreiro, H, Copigny, F, Giraudeau, M, Guy, C, Barbaroux, C, Amorim, G, Briaux, A, Guibert, V, Tarabeux, J, Caputo, S, Collet, A, Gesta, P, Ingster, O, Stern, M-H, Rouleau, E, de Pauw, A, Gauthier-Villars, M, Buecher, B, Bézieau, S, Stoppa-Lyonnet, D, Houdayer, C
Published in Oncogene (10.03.2016)
Published in Oncogene (10.03.2016)
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Malformations, genetic abnormalities, and wilms tumor
Dumoucel, S., Gauthier-Villars, M., Stoppa-Lyonnet, D., Parisot, P., Brisse, H., Philippe-Chomette, P., Sarnacki, S., Boccon-Gibod, L., Rossignol, S., Baumann, C., Aerts, I., Bourdeaut, F., Doz, F., Orbach, D., Pacquement, H., Michon, J., Schleiermacher, G.
Published in Pediatric blood & cancer (01.01.2014)
Published in Pediatric blood & cancer (01.01.2014)
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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
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., Nogues, C.
Published in Breast cancer research and treatment (01.08.2013)
Published in Breast cancer research and treatment (01.08.2013)
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Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition
dos Santos, E. Santana, Caputo, S. M., Castera, L., Gendrot, M., Briaux, A., Breault, M., Krieger, S., Rogan, P. K., Mucaki, E. J., Burke, L. J., Bièche, I., Houdayer, C., Vaur, D., Stoppa-Lyonnet, D., Brown, M. A., Lallemand, F., Rouleau, E.
Published in Breast cancer research and treatment (01.04.2018)
Published in Breast cancer research and treatment (01.04.2018)
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Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome
Bougeard, G, Baert-Desurmont, S, Tournier, I, Vasseur, S, Martin, C, Brugieres, L, Chompret, A, Bressac-de Paillerets, B, Stoppa-Lyonnet, D, Bonaiti-Pellie, C, Frebourg, T
Published in Journal of medical genetics (01.06.2006)
Published in Journal of medical genetics (01.06.2006)
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LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
S. Hacein-Bey-Abina, 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., G. de Saint Basile, 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., Cavazzana-Calvo, M.
Published in Science (American Association for the Advancement of Science) (17.10.2003)
Published in Science (American Association for the Advancement of Science) (17.10.2003)
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Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein
Mariani, L. L., Rivaud-Péchoux, S., Charles, P., Ewenczyk, C., Meneret, A., Monga, B. B., Fleury, M.-C., Hainque, E., Maisonobe, T., Degos, B., Echaniz-Laguna, A., Renaud, M., Wirth, T., Grabli, D., Brice, A., Vidailhet, M., Stoppa-Lyonnet, D., Dubois-d’Enghien, C., Le Ber, I., Koenig, M., Roze, E., Tranchant, C., Durr, A., Gaymard, B., Anheim, M.
Published in Scientific reports (10.11.2017)
Published in Scientific reports (10.11.2017)
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Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families
Bougeard, G, Sesboüé, R, Baert-Desurmont, S, Vasseur, S, Martin, C, Tinat, J, Brugières, L, Chompret, A, Paillerets, B Bressac-de, Stoppa-Lyonnet, D, Bonaïti-Pellié, C, Frébourg, T
Published in Journal of medical genetics (01.08.2008)
Published in Journal of medical genetics (01.08.2008)
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Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF
Houdayer, C., Gauthier‐Villars, M., Laugé, A., Pagès‐Berhouet, S., Dehainault, C., Caux‐Moncoutier, V., Karczynski, P., Tosi, M., Doz, F., Desjardins, L., Couturier, J., Stoppa‐Lyonnet, D.
Published in Human mutation (01.02.2004)
Published in Human mutation (01.02.2004)
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BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance
Eccles, D.M., Mitchell, G., Monteiro, A.N.A., Schmutzler, R., Couch, F.J., Spurdle, A.B., Gómez-García, E.B., Driessen, R., Lindor, N.M., Blok, M.J., Moller, P., de la Hoya, M., Pal, T., Domchek, S., Nathanson, K., Van Asperen, C., Diez, O., Rheim, K., Stoppa-Lyonnet, D., Parsons, M., Goldgar, D.
Published in Annals of oncology (01.10.2015)
Published in Annals of oncology (01.10.2015)
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Rapid progression of prostate cancer in men with a BRCA2 mutation
Narod, S A, Neuhausen, S, Vichodez, G, Armel, S, Lynch, H T, Ghadirian, P, Cummings, S, Olopade, O, Stoppa-Lyonnet, D, Couch, F, Wagner, T, Warner, E, Foulkes, W D, Saal, H, Weitzel, J, Tulman, A, Poll, A, Nam, R, Sun, P
Published in British journal of cancer (22.07.2008)
Published in British journal of cancer (22.07.2008)
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Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management
Anheim, M., Fleury, M., Monga, B., Laugel, V., Chaigne, D., Rodier, G., Ginglinger, E., Boulay, C., Courtois, S., Drouot, N., Fritsch, M., Delaunoy, J. P., Stoppa-Lyonnet, D., Tranchant, C., Koenig, M.
Published in Neurogenetics (01.02.2010)
Published in Neurogenetics (01.02.2010)
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Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants
Villy, M.-C., Masliah-Planchon, J., Melaabi, S., Trabelsi Grati, O., Girard, E., Bataillon, G., Vincent-Salomon, A., Le Gall, J., Golmard, L., Stoppa-Lyonnet, D., Bieche, I., Colas, C.
Published in Gynecologic oncology reports (01.08.2021)
Published in Gynecologic oncology reports (01.08.2021)
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Short-term psychological impact of the BRCA1/2 test result in women with breast cancer according to their perceived probability of genetic predisposition to cancer
Brédart, A, Kop, J L, DePauw, A, Caron, O, Sultan, S, Leblond, D, Fajac, A, Buecher, B, Gauthier-Villars, M, Noguès, C, Flahault, C, Stoppa-Lyonnet, D, Dolbeault, S
Published in British journal of cancer (19.03.2013)
Published in British journal of cancer (19.03.2013)
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Risk reducing mastectomy: outcomes in 10 European centres
Evans, D G R, Baildam, A D, Anderson, E, Brain, A, Shenton, A, Vasen, H F A, Eccles, D, Lucassen, A, Pichert, G, Hamed, H, Moller, P, Maehle, L, Morrison, P J, Stoppat-Lyonnet, D, Gregory, H, Smyth, E, Niederacher, D, Nestle-Krämling, C, Campbell, J, Hopwood, P, Lalloo, F, Howell, A
Published in Journal of medical genetics (01.04.2009)
Published in Journal of medical genetics (01.04.2009)
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233 Contribution of the loss of heterozygosity in the classification of BRCA1 variants
Santana Dos Santos, E, Caputo, S, Briaux, A, Southey, M, Spurdle, A, Vincent-Salomon, A, Meseure, D, Stoppa-Lyonnet, D, Houdayer, C, Rouleau, E
Published in European journal of cancer (1990) (01.09.2015)
Published in European journal of cancer (1990) (01.09.2015)
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422: Genomic structural instability and homologous recombination deficiency in breast and ovarian cancers
Popova, T, Manié, E, Battistella, A, Sastre-Garau, X, Goundiam, O, Vincent-Salomon, A, Stoppa-Lyonnet, D, Stern, M.H
Published in European journal of cancer (1990) (01.07.2014)
Published in European journal of cancer (1990) (01.07.2014)
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Establishment and characterisation of a new breast cancer xenograft obtained from a woman carrying a germline BRCA2 mutation
de Plater, L, Laugé, A, Guyader, C, Poupon, M-F, Assayag, F, de Cremoux, P, Vincent-Salomon, A, Stoppa-Lyonnet, D, Sigal-Zafrani, B, Fontaine, J-J, Brough, R, Lord, C J, Ashworth, A, Cottu, P, Decaudin, D, Marangoni, E
Published in British journal of cancer (12.10.2010)
Published in British journal of cancer (12.10.2010)
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