Functional and conformational impact of cancer-associated SF3B1 mutations depends on the position and the charge of amino acid substitution

por Canbezdi, Christine, Tarin, Malcy, Houy, Alexandre, Bellanger, Dorine, Popova, Tatiana, Stern, Marc-Henri, Roman-Roman, Sergio, Alsafadi, Samar
Publicado 2021

Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

por Alsafadi, Samar, Houy, Alexandre, Battistella, Aude, Popova, Tatiana, Wassef, Michel, Henry, Emilie, Tirode, Franck, Constantinou, Angelos, Piperno-Neumann, Sophie, Roman-Roman, Sergio, Dutertre, Martin, Stern, Marc-Henri
Publicado 2016

Prospective validation in epithelial tumors of a gene expression predictor of liver metastasis derived from uveal melanoma

por Tsantoulis, Petros, Delorenzi, Mauro, Bièche, Ivan, Vacher, Sophie, Mariani, Pascale, Cassoux, Nathalie, Houy, Alexandre, Stern, Marc-Henri, Roman-Roman, Sergio, Dietrich, Pierre-Yves, Roth, Arnaud, Cacheux, Wulfran
Publicado 2019

Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers

por Alsafadi, Samar, Dayot, Stephane, Tarin, Malcy, Houy, Alexandre, Bellanger, Dorine, Cornella, Michele, Wassef, Michel, Waterfall, Joshua J., Lehnert, Erik, Roman-Roman, Sergio, Stern, Marc-Henri, Popova, Tatiana
Publicado 2020

ShallowHRD: detection of homologous recombination deficiency from shallow whole genome sequencing

por Eeckhoutte, Alexandre, Houy, Alexandre, Manié, Elodie, Reverdy, Manon, Bièche, Ivan, Marangoni, Elisabetta, Goundiam, Oumou, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Bidard, François-Clément, Stern, Marc-Henri, Popova, Tatiana
Publicado 2020

Definition of Biologically Distinct Groups of Conjunctival Melanomas According to Etiological Factors and Implications for Precision Medicine

por Gardrat, Sophie, Houy, Alexandre, Brooks, Kelly, Cassoux, Nathalie, Barnhill, Raymond, Dayot, Stéphane, Bièche, Ivan, Raynal, Virginie, Baulande, Sylvain, Marais, Richard, Roman-Roman, Sergio, Stern, Marc-Henri, Rodrigues, Manuel
Publicado 2021

A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus

por Mobuchon, Lenha, Battistella, Aude, Bardel, Claire, Scelo, Ghislaine, Renoud, Alexia, Houy, Alexandre, Cassoux, Nathalie, Milder, Maud, Cancel-Tassin, Géraldine, Cussenot, Olivier, Delattre, Olivier, Besse, Céline, Boland, Anne, Deleuze, Jean-François, Cox, David G., Stern, Marc-Henri
Publicado 2017

Germline MBD4 Mutations and Predisposition to Uveal Melanoma

por Derrien, Anne-Céline, Rodrigues, Manuel, Eeckhoutte, Alexandre, Dayot, Stéphane, Houy, Alexandre, Mobuchon, Lenha, Gardrat, Sophie, Lequin, Delphine, Ballet, Stelly, Pierron, Gaëlle, Alsafadi, Samar, Mariani, Odette, El-Marjou, Ahmed, Matet, Alexandre, Colas, Chrystelle, Cassoux, Nathalie, Stern, Marc-Henri
Publicado 2020

Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas

por Mobuchon, Lenha, Derrien, Anne-Céline, Houy, Alexandre, Verrier, Thibault, Pierron, Gaëlle, Cassoux, Nathalie, Milder, Maud, Deleuze, Jean-François, Boland, Anne, Scelo, Ghislaine, Cancel-Tassin, Géraldine, Cussenot, Olivier, Rodrigues, Manuel, Noirel, Josselin, Machiela, Mitchell J, Stern, Marc-Henri
Publicado 2021

Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor

por Derrien, Anne-Céline, Houy, Alexandre, Ganier, Olivier, Dingli, Florent, Ningarhari, Massih, Mobuchon, Lenha, Espejo Díaz, María Isabel, Loew, Damarys, Cassoux, Nathalie, Cussenot, Olivier, Cancel-Tassin, Géraldine, Margueron, Raphael, Noirel, Josselin, Zucman-Rossi, Jessica, Rodrigues, Manuel, Stern, Marc-Henri
Publicado 2022

Circulating Tumor DNA as a Prognostic Factor in Patients With Resectable Hepatic Metastases of Uveal Melanoma

por Mariani, Pascale, Bidard, François-Clément, Rampanou, Aurore, Houy, Alexandre, Servois, Vincent, Ramtohul, Toulsie, Pierron, Gaelle, Chevrier, Marion, Renouf, Benjamin, Lantz, Olivier, Gardrat, Sophie, Vincent-Salomon, Anne, Roman-Roman, Sergio, Rodrigues, Manuel, Piperno-Neumann, Sophie, Cassoux, Nathalie, Stern, Marc-Henri, Renault, Shufang
Publicado 2023

Glycolysis Dependency as a Hallmark of SF3B1-Mutated Cells

por Vivet-Noguer, Raquel, Tarin, Malcy, Canbezdi, Christine, Dayot, Stephane, Silva, Lisseth, Houy, Alexandre, Martineau, Sylvain, Mieulet, Virginie, Gentric, Géraldine, Loew, Damarys, Lombard, Bérangère, Nemati, Fariba, Richon, Sophie, Guyonnet, Lea, Servois, Vincent, Vagner, Stephan, Stern, Marc-Henri, Roman-Roman, Sergio, Alsafadi, Samar
Publicado 2022

Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors

por Rodrigues, Manuel, Mobuchon, Lenha, Houy, Alexandre, Fiévet, Alice, Gardrat, Sophie, Barnhill, Raymond L., Popova, Tatiana, Servois, Vincent, Rampanou, Aurore, Mouton, Aurore, Dayot, Stéphane, Raynal, Virginie, Galut, Michèle, Putterman, Marc, Tick, Sarah, Cassoux, Nathalie, Roman-Roman, Sergio, Bidard, François-Clément, Lantz, Olivier, Mariani, Pascale, Piperno-Neumann, Sophie, Stern, Marc-Henri
Publicado 2018

SF3B1 hotspot mutations confer sensitivity to PARP inhibition by eliciting a defective replication stress response

por Bland, Philip, Saville, Harry, Wai, Patty T., Curnow, Lucinda, Muirhead, Gareth, Nieminuszczy, Jadwiga, Ravindran, Nivedita, John, Marie Beatrix, Hedayat, Somaieh, Barker, Holly E., Wright, James, Yu, Lu, Mavrommati, Ioanna, Read, Abigail, Peck, Barrie, Allen, Mark, Gazinska, Patrycja, Pemberton, Helen N., Gulati, Aditi, Nash, Sarah, Noor, Farzana, Guppy, Naomi, Roxanis, Ioannis, Pratt, Guy, Oldreive, Ceri, Stankovic, Tatjana, Barlow, Samantha, Kalirai, Helen, Coupland, Sarah E., Broderick, Ronan, Alsafadi, Samar, Houy, Alexandre, Stern, Marc-Henri, Pettit, Stephen, Choudhary, Jyoti S., Haider, Syed, Niedzwiedz, Wojciech, Lord, Christopher J., Natrajan, Rachael
Publicado 2023