Search Results - "Lyonnet, D. Stoppa"

Malformations, genetic abnormalities, and wilms tumor by 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.

“…Background Wilms Tumor (WT) can occur in association with tumor predisposition syndromes and/or with clinical malformations. These associations have not been…”
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Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations by 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

“…BRCA1 and BRCA2 are the two major genes predisposing to breast and ovarian cancer. Whereas high de novo mutation rates have been demonstrated for several…”
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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 by 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.

“…Purpose The molecular mechanism of breast and/or ovarian cancer susceptibility remains unclear in the majority of patients. While germline mutations in the…”
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Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein by 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.

“…Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by…”
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Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families by Bougeard, G, Sesboüé, R, Baert-Desurmont, S, Vasseur, S, Martin, C, Tinat, J, Brugières, L, Chompret, A, de Paillerets, B Bressac, Stoppa-Lyonnet, D, Bonaïti-Pellié, C, Frébourg, T

“…We have performed an extensive analysis of TP53 in 474 French families suggestive of Li-Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret…”
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Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome by 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

“…Li-Fraumeni syndrome, resulting from p53 (TP53) germline mutations, represents one of the most devastating genetic predispositions to cancer. Recently, the…”
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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 by 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.

“…Based on nationwide data from the French national cancer institute (INCa), we analyzed the evolution of cancer genetics consultations and testing over time,…”
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Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF by 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.

“…Constitutional mutations of the RB1 gene are associated with a predisposition to retinoblastoma. It is essential to identify these mutations to provide…”
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Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants by 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.

“…•Some gynecologic tumors harbor a POLE pathogenic variant, raising prognostic and therapeutic issues.•Tumors harboring a POLE pathogenic variant exhibit…”
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Structural organization and expression of human MTUS1, a candidate 8p22 tumor suppressor gene encoding a family of angiotensin II AT2 receptor-interacting proteins, ATIP by Di Benedetto, M., Bièche, I., Deshayes, F., Vacher, S., Nouet, S., Collura, V., Seitz, I., Louis, S., Pineau, P., Amsellem-Ouazana, D., Couraud, P.O., Strosberg, A.D., Stoppa-Lyonnet, D., Lidereau, R., Nahmias, C.

“…The Mitochondrial Tumor suppressor 1 ( MTUS1) gene is a newly identified candidate tumor suppressor gene at chromosomal position 8p22. We report here that…”
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Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? by WARE, M. D, DESILVA, D, SINILNIKOVA, O. M, STOPPA-LYONNET, D, TAVTIGIAN, S. V, MAZOYER, S

“…BRCA2 (BReast CAncer susceptibility gene 2) germline mutation carriers are at increased risk for breast and ovarian cancers. Mutations occurring in the ovarian…”
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Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families by Cavaciuti, E., Laugé, A., Janin, N., Ossian, K., Hall, J., Stoppa-Lyonnet, D., Andrieu, N.

“…Epidemiological studies have indicated that ataxia‐telangiectasia (AT) heterozygotes in AT families have an increased risk of cancer, particularly of breast…”
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BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance by 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.

“…Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation…”
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The contribution of germline rearrangements to the spectrum of BRCA2 mutations by Casilli, F, Tournier, I, Sinilnikova, O M, Coulet, F, Soubrier, F, Houdayer, C, Hardouin, A, Berthet, P, Sobol, H, Bourdon, V, Muller, D, Fricker, J P, Capoulade-Metay, C, Chompret, A, Nogues, C, Mazoyer, S, Chappuis, P, Maillet, P, Philippe, C, Lortholary, A, Gesta, P, Bézieau, S, Toulas, C, Gladieff, L, Maugard, C M, Provencher, D M, Dugast, C, Delvincourt, C, Nguyen, T D, Faivre, L, Bonadona, V, Frébourg, T, Lidereau, R, Stoppa-Lyonnet, D, Tosi, M

“…Background: Few germline BRCA2 rearrangements have been described compared with the large number of germline rearrangements reported in the BRCA1 gene…”
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Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene by Dehainault, C., Laugé, A., Caux-Moncoutier, V., Pagès-Berhouet, S., Doz, F., Desjardins, L., Couturier, J., Gauthier-Villars, M., Stoppa-Lyonnet, D., Houdayer, C.

“…Screening for large gene rearrangements is established as an important part of molecular medicine but is also challenging. A variety of robust methods can…”
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PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history by Alarcon, F., Bourgain, C., Gauthier-Villars, M., Planté-Bordeneuve, V., Stoppa-Lyonnet, D., Bonaïti-Pellié, C.

“…Providing valid risk estimates of a genetic disease with variable age of onset is a major challenge for prevention strategies. When data are obtained from…”
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Mutation analysis of the 8p22 candidate tumor suppressor gene ATIP/ MTUS1 in hepatocellular carcinoma by Di Benedetto, M., Pineau, P., Nouet, S., Berhouet, S., Seitz, I., Louis, S., Dejean, A., Couraud, P.O., Strosberg, A.D., Stoppa-Lyonnet, D., Nahmias, C.

“…A high frequency of allelic loss affecting chromosome 8p and a minimal region of deletion at p21-22 have been previously reported in hepatocellular carcinoma…”
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Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers by FERNET, M, MOULLAN, N, LAUGE, A, STOPPA-LYONNET, D, HALL, J

“…It has been estimated that approximately 1% of the general population are ataxia telangiectasia (AT) mutated (ATM) heterozygotes. The ATM protein plays a…”
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Multiple molecular mechanisms contribute to radiation sensitivity in mantle cell lymphoma by M'KACHER, R, BENNACEUR, A, STOPPA-LYONNET, D, RIBRAG, V, CARDE, P, PARMENTIER, C, BERNHEIM, A, TURHAN, A. G, FARACE, F, LAUGE, A, PLASSA, L. F, WITTMER, E, DOSSOU, J, VIOLOT, D, DEUTSCH, E, BOURHIS, J

“…Mantle cell lymphomas (MCL) are characterized by their aggressive behavior and poor response to chemotherapy regimens. We report here evidence of increased in…”
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LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1 by 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.

“…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…”
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