The TP53 Arg72Pro and MDM2 309G > T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Autor: Ignacio Blanco, Heli Nevanlinna, Norbert Arnold, Gad Rennert, Catherine Noguès, Javier Benitez, Etienne Rouleau, Embrace, Gemo, Irene Konstantopoulou, David J. Hughes, Flavio Lejbkowicz, kConFab, Rita K. Schmutzler, Mercedes Durán, Carole Brewer, Beatrix Versmold, Georgia Chenevix-Trench, Paolo Radice, Trevor Cole, Alfons Meindl, Ivan Bièche, Rosalind A. Eeles, Isabelle Coupier, Olga M. Sinilnikova, Hebon, A L Laborde, Florence Coulet, Kristiina Aittomäki, M. Cook, Ana Osorio, D. G. Evans, Dieter Schaefer, S. Giraud, Craig Luccarini, Jacques Simard, Hans J. J. P. Gille, Fiona Lalloo, Liliane Demange, Xiaoqing Chen, Florent Soubrier, Susan Peock, Amanda B. Spurdle, Rosemarie Davidson, Lesley McGuffog, T. A. M. van Os, Henry T. Lynch, Jacqueline Cook, Ursula G. Froster, Douglas F. Easton, Sara Dishon, Siranoush Manoukian, Christian Sutter, Gabriella Pichert, Frans B. L. Hogervorst, Mélanie Léoné, Jonathan Beesley, Katherine L. Nathanson, Rosette Lidereau, Sue Healey, Daniel Sinnett, Gc-Hboc, Christoph Engel, Joan Paterson, Chrystelle Colas, Mark H. Greene, U Hamann, Dominique Stoppa-Lyonnet, Ocgn, Irene L. Andrulis, Helmut Deissler, Jennifer T. Loud, A C Antoniou, Susan M. Domchek

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
BRITISH JOURNAL OF CANCER
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Recercat. Dipósit de la Recerca de Catalunya
British Journal of Cancer
Sinilnikova, O M, Antoniou, A C, Simard, J, Healey, S, Leone, M, Sinnett, D, Spurdle, A B, Beesley, J, Chen, X, Greene, M H, Loud, J T, Lejbkowicz, F, Rennert, G, Dishon, S, Andrulis, I L, Domchek, S M, Nathanson, K L, Manoukian, S, Radice, P, Konstantopoulou, I, Blanco, I, Laborde, A L, Duran, M, Osorio, A, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A M, Gille, J J P, Peock, S, Cook, M, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Davidson, R, Cole, T, Cook, J, Paterson, J, Brewer, C, Hughes, D J, Coupier, I, Giraud, S, Coulet, F, Colas, C, Soubrier, F, Rouleau, E, Bieche, I, Lidereau, R, Demange, L, Nogues, C, Lynch, H T, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Sutter, C, Deissler, H, Schaefer, D, Froster, U G, Aittomaki, K, Nevanlinna, H, McGuffog, L, Easton, D F, Chenevix-Trench, G & Stoppa-Lyonnet, D 2009, ' The TP53 Arg72Pro and MDM2 309G > T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', British Journal of Cancer, vol. 101, no. 8, pp. 1456-1460 . https://doi.org/10.1038/sj.bjc.6605279
British Journal of Cancer, 101(8), 1456-1460. Nature Publishing Group

BACKGROUND: The TP53 pathway, in which TP53 and its negative regulator MDM2 are the central elements, has an important role in carcinogenesis, particularly in BRCA1- and BRCA2-mediated carcinogenesis. A single nucleotide polymorphism (SNP) in the pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc2176476f08ccdf42bfc7391bc1cac4
https://doi.org/10.1038/sj.bjc.6605279

Molecular study of the perforin gene in familial hematological malignancies

Autor: Hélène Zattara, Ilia Voskoboinik, Halima El Omri, Saloua Yacoub Jemni, Laurence Faivre, Hagay Sobol, Catherine Dugast, Valérie Bonadona, Hélène Dreyfus, Testsuro Noguchi, Laetitia Huiart, Yosra Ben Youssef, Rim El Abed, Marc Frenay, Liliane Demange, Violaine Bourdon, Paul Gesta, Mohamed Adnène Laatiri, François Eisinger, Laetitia Rabayrol, Monia Zaier, Zohra Soua

Publikováno v: Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 9, Iss 1, p 9 (2011)

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 fam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc247c4fdacd860b9b5b28afa8e697e9
https://pubmed.ncbi.nlm.nih.gov/21936944

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

Autor: F, Lesueur, M, de Lichy, M, Barrois, G, Durand, J, Bombled, M-F, Avril, A, Chompret, F, Boitier, G M, Lenoir, B, Bressac-de Paillerets, Monique, Baccard, Bertrand, Bachollet, Pascaline, Berthet, Valérie, Bonadona, Jean-Marie, Bonnetblanc, Olivier, Caron, Jacqueline, Chevrant-Breton, Jean-François, Cuny, Stéphane, Dalle, Michèle, Delaunay, Liliane, Demange, Julie, De Quatrebarbes, Jean-François, Doré, Marc, Frénay, Jean-Pierre, Fricker, Marion, Gauthier-Villars, Paul, Gesta, Sophie, Giraud, Philippe, Gorry, Florent, Grange, Andrew, Green, Laetitia, Huiart, Nicolas, Janin, Pascal, Joly, Delphine, Kérob, Christine, Lasset, Dominique, Leroux, Jean-Marc, Limacher, Michel, Longy, Sandrine, Mansard, Karine, Marrou, Tanguy, Martin-Denavit, Christine, Mateus, Eve, Maubec, Laurence, Olivier-Faivre, Vincent, Orlandini, Pascal, Pujol, Bruno, Sassolas, Dominique, Stoppa-Lyonnet, Luc, Thomas, Pierre, Vabres, Laurence, Venat, Ewa, Wierzbicka, Hélène, Zattara

Publikováno v: British Journal of Cancer
British Journal of Cancer, Cancer Research UK, 2008, 99 (2), pp.364-370. ⟨10.1038/sj.bjc.6604470⟩
British Journal of Cancer, 2008, 99 (2), pp.364-370. ⟨10.1038/sj.bjc.6604470⟩

International audience; Mutations in two genes encoding cell cycle regulatory proteins have been shown to cause familial cutaneous malignant melanoma (CMM). About 20% of melanoma-prone families bear a point mutation in the CDKN2A locus at 9p21, which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe7899be6299cad831247c3a98072fc2
https://hal.archives-ouvertes.fr/hal-02196212

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

Autor: Aaron Bensimon, Sabine Pagès-Berhouet, Marc Frenay, Dominique Stoppa-Lyonnet, Isabelle Coupier, Yves-Jean Bignon, Annick Rossi, Tan Dat Nguyen, Jean-Pierre Fricker, Annie Chevrier, Liliane Demange, Christine Maugard, Alain Aurias, Pascal Pujol, Marion Gauthier-Villars, Brigitte Gilbert, Sophie Gad, Virginie Caux-Moncoutier

Publikováno v: Oncogene. 21(44)

Genetic linkage data have shown that alterations of the BRCA1 gene are responsible for the majority of hereditary breast-ovarian cancers. However, BRCA1 germline mutations are found much less frequently than expected, especially as standard PCR-based

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ecd34e854cde55ec91a1b927ddd2f37
https://pubmed.ncbi.nlm.nih.gov/12360411

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition

Autor: Inès Schultz, Liliane Demange, Ivan Bièche, Jean Pierre Fricker, Etienne Rouleau, Danièle Muller, Rosette Lidereau, Jean Marc Limacher, Catherine Noguès, Olivier Caron, Sandrine M. Caputo, Cédrick Lefol, Joseph Abecassis

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 12, Iss 1, p 121 (2011)

Background Germ-line mutations in the BRCA1 and BRCA2 genes are major contributors to hereditary breast/ovarian cancer. Large rearrangements are less frequent in the BRCA2 gene than in BRCA1. We report, here, the first total deletion of exon 3 in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76d465d18357b685c1462cfd1f432b5a
http://europepmc.org/articles/PMC3198910