TY - JOUR
A1 - Blanco, Ignacio
A1 - Kuchenbaecker, Karoline
A1 - Cuadras, Daniel
A1 - Wang, Xianshu
A1 - Barrowdale, Daniel
A1 - Ruiz de Garibay, Gorka
A1 - Librado, Pablo
A1 - Sanchez-Gracia, Alejandro
A1 - Rozas, Julio
A1 - Bonifaci, Núria
A1 - McGuffog, Lesley
A1 - Pankratz, Vernon S.
A1 - Islam, Abul
A1 - Mateo, Francesca
A1 - Berenguer, Antoni
A1 - Petit, Anna
A1 - Català, Isabel
A1 - Brunet, Joan
A1 - Feliubadaló, Lidia
A1 - Tornero, Eva
A1 - Benítez, Javier
A1 - Osorio, Ana
A1 - Ramón y Cajal, Teresa
A1 - Nevanlinna, Heli
A1 - Aittomäki, Kristina
A1 - Arun, Banu K.
A1 - Toland, Amanda E.
A1 - Karlan, Beth Y.
A1 - Walsh, Christine
A1 - Lester, Jenny
A1 - Greene, Mark H.
A1 - Mai, Phuong L.
A1 - Nussbaum, Robert L.
A1 - Andrulis, Irene L.
A1 - Domchek, Susan M.
A1 - Nathanson, Katherine L.
A1 - Rebbeck, Timothy R.
A1 - Barkardottir, Rosa B.
A1 - Jakubowska, Anna
A1 - Lubinski, Jan
A1 - Durda, Katarzyna
A1 - Jaworska-Bieniek, Katarzyna
A1 - Claes, Kathleen
A1 - Van Maerken, Tom
A1 - Díez, Orland
A1 - Hansen, Thomas V.
A1 - Jønson, Lars
A1 - Gerdes, Anne-Marie
A1 - Ejlertsen, Bent
A1 - De la Hoya, Miguel
A1 - Caldés, Trinidad
A1 - Dunning, Alison M.
A1 - Oliver, Clare
A1 - Fineberg, Elena
A1 - Cook, Margaret
A1 - Peock, Susan
A1 - McCann, Emma
A1 - Murray, Alex
A1 - Jacobs, Chris
A1 - Pichert, Gabriella
A1 - Lalloo, Fiona
A1 - Chu, Carol
A1 - Dorkins, Huw
A1 - Paterson, Joan
A1 - Ong, Kai-Ren
A1 - Teixeira, Manuel R.
A1 - Hogervorst, Frans B. L.
A1 - Van der Hout, Annemarie H.
A1 - Seynaeve, Caroline
A1 - Van der Luijt, Rob B.
A1 - Ligtenberg, Marjolijn J. L.
A1 - Devilee, Peter
A1 - Wijnen, Juul T.
A1 - Rookus, Matti A.
A1 - Meijers-Heijboer, Hanne E. J.
A1 - Blok, Marinus J.
A1 - Van den Ouweland, Ans M. W.
A1 - Aalfs, Cora M.
A1 - Rodriguez, Gustavo C.
A1 - Phillips, Kelly-Anne A.
A1 - Piedmonte, Marion
A1 - Nerenstone, Stacy R.
A1 - Bae-Jump, Victoria L.
A1 - O'Malley, David M.
A1 - Schmutzler, Rita K.
A1 - Wappenschmidt, Barbara
A1 - Rhiem, Kerstin
A1 - Engel, Christoph
A1 - Meindl, Alfons
A1 - Ditsch, Nina
A1 - Arnold, Norbert
A1 - Plendl, Hansjoerg J.
A1 - Niederacher, Dieter
A1 - Sutter, Christian
A1 - Wang-Gohrke, Shan
A1 - Steinemann, Doris
A1 - Preisler-Adams, Sabine
A1 - Kast, Karin
A1 - Varon-Mateeva, Raymonda
A1 - Gehrig, Andrea
A1 - Bojesen, Anders
A1 - Pedersen, Inge Sokilde
A1 - Sunde, Lone
A1 - Birk Jensen, Uffe
A1 - Thomassen, Mads
A1 - Kruse, Torben A.
A1 - Foretova, Lenka
A1 - Peterlongo, Paolo
A1 - Bernard, Loris
A1 - Peissel, Bernard
A1 - Scuvera, Giulietta
A1 - Manoukian, Siranoush
A1 - Radice, Paolo
A1 - Ottini, Laura
A1 - Montagna, Marco
A1 - Agata, Simona
A1 - Maugard, Christine
A1 - Simard, Jacques
A1 - Soucy, Penny
A1 - Berger, Andreas
A1 - Fink-Retter, Anneliese
A1 - Singer, Christian F.
A1 - Rappaport, Christine
A1 - Geschwantler-Kaulich, Daphne
A1 - Tea, Muy-Kheng
A1 - Pfeiler, Georg
A1 - John, Esther M.
A1 - Miron, Alex
A1 - Neuhausen, Susan L.
A1 - Terry, Mary Beth
A1 - Chung, Wendy K.
A1 - Daly, Mary B.
A1 - Goldgar, David E.
A1 - Janavicius, Ramunas
A1 - Dorfling, Cecilia M.
A1 - Van Rensburg, Elisabeth J.
A1 - Fostira, Florentia
A1 - Konstantopoulou, Irene
A1 - Garber, Judy
A1 - Godwin, Andrew K.
A1 - Olah, Edith
A1 - Narod, Steven A.
A1 - Rennert, Gad
A1 - Paluch, Shani Shimon
A1 - Laitman, Yael
A1 - Friedman, Eitan
A1 - Liljegren, Annelie
A1 - Rantala, Johanna
A1 - Stenmark-Askmalm, Marie
A1 - Loman, Niklas
A1 - Imyanitov, Evgeny N.
A1 - Hamann, Ute
A1 - Spurdle, Amanda B.
A1 - Healey, Sue
A1 - Weitzel, Jeffrey N.
A1 - Herzog, Josef
A1 - Margileth, David
A1 - Gorrini, Chiara
A1 - Esteller, Manel
A1 - Gómez, Antonio
A1 - Sayols, Sergi
A1 - Vidal, Enrique
A1 - Heyn, Holger
A1 - Stoppa-Lyonnet, Dominique
A1 - Léoné, Melanie
A1 - Barjhoux, Laure
A1 - Fassy-Colcombet, Marion
A1 - Pauw, Antoine de
A1 - Lasset, Christine
A1 - Fert Ferrer, Sandra
A1 - Castera, Laurent
A1 - Berthet, Pascaline
A1 - Cornelis, François
A1 - Bignon, Yves-Jean
A1 - Damiola, Francesca
A1 - Mazoyer, Sylvie
A1 - Sinilnikova, Olga M.
A1 - Maxwell, Christopher A.
A1 - Vijai, Joseph
A1 - Robson, Mark
A1 - Kauff, Noah
A1 - Corines, Marina J.
A1 - Villano, Danylko
A1 - Cunningham, Julie
A1 - Lee, Adam
A1 - Lindor, Noralane
A1 - Lázaro, Conxi
A1 - Easton, Douglas F.
A1 - Offit, Kenneth
A1 - Chenevix-Trench, Georgia
A1 - Couch, Fergus J.
A1 - Antoniou, Antonis C.
A1 - Pujana, Miguel Angel
T1 - Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers
JF - PLoS ONE
N2 - While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of HMMR rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04 - 1.15, p = 1.9 x 10\(^{-4}\) (false discovery rate (FDR)-adjusted p = 0.043). Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03 - 1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted p\(_{interaction}\) values > 0.05) for deviations from the multiplicative model for rs299290 and CSTF1 rs6064391, and rs299290 and TUBG1 rs11649877 in both BRCA1 and BRCA2 mutation carriers. Following these suggestions, the expression of HMMR and AURKA or TUBG1 in sporadic breast tumors was found to potentially interact, influencing patients' survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers.
KW - genetic interaction networks
KW - genome-wide association
KW - expression signature
KW - susceptibility loci
KW - survival
KW - modifiers
KW - polymorphism
KW - cell
KW - chip-seq
KW - elements
Y1 - 2015
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-143469
VL - 10
IS - 4
ER -
TY - JOUR
A1 - Carmela Vegliante, Maria
A1 - Royo, Cristina
A1 - Palomero, Jara
A1 - Salaverria, Itziar
A1 - Balint, Balazs
A1 - Martin-Guerrero, Idoia
A1 - Agirre, Xabier
A1 - Lujambio, Amaia
A1 - Richter, Julia
A1 - Xargay-Torrent, Silvia
A1 - Bea, Silvia
A1 - Hernandez, Luis
A1 - Enjuanes, Anna
A1 - Jose Calasanz, Maria
A1 - Rosenwald, Andreas
A1 - Ott, German
A1 - Roman-Gomez, Jose
A1 - Prosper, Felipe
A1 - Esteller, Manel
A1 - Jares, Pedro
A1 - Siebert, Reiner
A1 - Campo, Elias
A1 - Martin-Subero, Jose I.
A1 - Amador, Virginia
T1 - Epigenetic Activation of SOX11 in Lymphoid Neoplasms by Histone Modifications
JF - PLoS ONE
N2 - Recent studies have shown aberrant expression of SOX11 in various types of aggressive B-cell neoplasms. To elucidate the molecular mechanisms leading to such deregulation, we performed a comprehensive SOX11 gene expression and epigenetic study in stem cells, normal hematopoietic cells and different lymphoid neoplasms. We observed that SOX11 expression is associated with unmethylated DNA and presence of activating histone marks (H3K9/14Ac and H3K4me3) in embryonic stem cells and some aggressive B-cell neoplasms. In contrast, adult stem cells, normal hematopoietic cells and other lymphoid neoplasms do not express SOX11. Such repression was associated with silencing histone marks H3K9me2 and H3K27me3. The SOX11 promoter of non-malignant cells was consistently unmethylated whereas lymphoid neoplasms with silenced SOX11 tended to acquire DNA hypermethylation. SOX11 silencing in cell lines was reversed by the histone deacetylase inhibitor SAHA but not by the DNA methyltransferase inhibitor AZA. These data indicate that, although DNA hypermethylation of SOX11 is frequent in lymphoid neoplasms, it seems to be functionally inert, as SOX11 is already silenced in the hematopoietic system. In contrast, the pathogenic role of SOX11 is associated with its de novo expression in some aggressive lymphoid malignancies, which is mediated by a shift from inactivating to activating histone modifications.
KW - Mantle cell lymphoma
KW - Defined burkitts lymphoma
KW - Transcription-factor
KW - Gene-expression
KW - High-resolution
KW - DNA methylation
KW - Nuclear expression
KW - Cancer
KW - Microarray
KW - Survival
Y1 - 2011
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-135325
VL - 6
IS - 6
ER -