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3. Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

Author

Yonneau Laurent, Méjean Arnaud, Denoux Yves, Giraud Sophie, Gad Sophie, Nordenskjöld Magnus, Bergerheim Ulf, Aly Markus, Zickert Peter, Sääf Annika, Yang Ximing J, Chen Jindong, Dykema Karl J, Niemi Natalie M, Petillo David, Klomp Jeff A, Vasiliu Viorel, Richard Stéphane, MacKeigan Jeffrey P, Teh Bin T, and Furge Kyle A

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Germline mutations in the folliculin (FLCN) gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS), a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothorax, and the development of renal neoplasias. The majority of renal tumors that arise in BHDS-affected individuals are histologically similar to sporadic chromophobe renal cell carcinoma (RCC) and sporadic renal oncocytoma. However, most sporadic tumors lack FLCN mutations and the extent to which the BHDS-derived renal tumors share genetic defects associated with the sporadic tumors has not been well studied. Methods BHDS individuals were identified symptomatically and FLCN mutations were confirmed by DNA sequencing. Comparative gene expression profiling analyses were carried out on renal tumors isolated from individuals afflicted with BHDS and a panel of sporadic renal tumors of different subtypes using discriminate and clustering approaches. qRT-PCR was used to confirm selected results of the gene expression analyses. We further analyzed differentially expressed genes using gene set enrichment analysis and pathway analysis approaches. Pathway analysis results were confirmed by generation of independent pathway signatures and application to additional datasets. Results Renal tumors isolated from individuals with BHDS showed distinct gene expression and cytogenetic characteristics from sporadic renal oncocytoma and chromophobe RCC. The most prominent molecular feature of BHDS-derived kidney tumors was high expression of mitochondria-and oxidative phosphorylation (OXPHOS)-associated genes. This mitochondria expression phenotype was associated with deregulation of the PGC-1α-TFAM signaling axis. Loss of FLCN expression across various tumor types is also associated with increased nuclear mitochondrial gene expression. Conclusions Our results support a genetic distinction between BHDS-associated tumors and other renal neoplasias. In addition, deregulation of the PGC-1α-TFAM signaling axis is most pronounced in renal tumors that harbor FLCN mutations and in tumors from other organs that have relatively low expression of FLCN. These results are consistent with the recently discovered interaction between FLCN and AMPK and support a model in which FLCN is a regulator of mitochondrial function.

Published
2010
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4. The ancient mammalian KRAB zinc finger gene cluster on human chromosome 8q24.3 illustrates principles of C2H2 zinc finger evolution associated with unique expression profiles in human tissues

Author

Ding Guohui, Wen Gaiping, Gad Sophie, Autran Sandra, Koczan Dirk, Wilhelm Thomas, Dietmann Sabine, Lorenz Peter, Li Yixue, Rousseau-Merck Marie-Françoise, and Thiesen Hans-Juergen

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Expansion of multi-C2H2 domain zinc finger (ZNF) genes, including the Krüppel-associated box (KRAB) subfamily, paralleled the evolution of tetrapodes, particularly in mammalian lineages. Advances in their cataloging and characterization suggest that the functions of the KRAB-ZNF gene family contributed to mammalian speciation. Results Here, we characterized the human 8q24.3 ZNF cluster on the genomic, the phylogenetic, the structural and the transcriptome level. Six (ZNF7, ZNF34, ZNF250, ZNF251, ZNF252, ZNF517) of the seven locus members contain exons encoding KRAB domains, one (ZNF16) does not. They form a paralog group in which the encoded KRAB and ZNF protein domains generally share more similarities with each other than with other members of the human ZNF superfamily. The closest relatives with respect to their DNA-binding domain were ZNF7 and ZNF251. The analysis of orthologs in therian mammalian species revealed strong conservation and purifying selection of the KRAB-A and zinc finger domains. These findings underscore structural/functional constraints during evolution. Gene losses in the murine lineage (ZNF16, ZNF34, ZNF252, ZNF517) and potential protein truncations in primates (ZNF252) illustrate ongoing speciation processes. Tissue expression profiling by quantitative real-time PCR showed similar but distinct patterns for all tested ZNF genes with the most prominent expression in fetal brain. Based on accompanying expression signatures in twenty-six other human tissues ZNF34 and ZNF250 revealed the closest expression profiles. Together, the 8q24.3 ZNF genes can be assigned to a cerebellum, a testis or a prostate/thyroid subgroup. These results are consistent with potential functions of the ZNF genes in morphogenesis and differentiation. Promoter regions of the seven 8q24.3 ZNF genes display common characteristics like missing TATA-box, CpG island-association and transcription factor binding site (TFBS) modules. Common TFBS modules partly explain the observed expression pattern similarities. Conclusions The ZNF genes at human 8q24.3 form a relatively old mammalian paralog group conserved in eutherian mammals for at least 130 million years. The members persisted after initial duplications by undergoing subfunctionalizations in their expression patterns and target site recognition. KRAB-ZNF mediated repression of transcription might have shaped organogenesis in mammalian ontogeny.

Published
2010
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5. Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma

Author

Fevotte Joelle, Béroud Christophe, Caïola Delphine, Gad Sophie, Charbotel Barbara, Bergeret Alain, Ferlicot Sophie, and Richard Stéphane

Subjects
Industrial medicine. Industrial hygiene, RC963-969
Abstract

Abstract Background We investigated the association between exposure to trichloroethylene (TCE) and mutations in the von Hippel-Lindau (VHL) gene and the subsequent risk for renal cell carcinoma (RCC). Methods Cases were recruited from a case-control study previously carried out in France that suggested an association between exposures to high levels of TCE and increased risk of RCC. From 87 cases of RCC recruited for the epidemiological study, 69 were included in the present study. All samples were evaluated by a pathologist in order to identify the histological subtype and then be able to focus on clear cell RCC. The majority of the tumour samples were fixed either in formalin or Bouin's solutions. The majority of the tumours were of the clear cell RCC subtype (48 including 2 cystic RCC). Mutation screening of the 3 VHL coding exons was carried out. A descriptive analysis was performed to compare exposed and non exposed cases of clear cell RCC in terms of prevalence of mutations in both groups. Results In the 48 cases of RCC, four VHL mutations were detected: within exon 1 (c.332G>A, p.Ser111Asn), at the exon 2 splice site (c.463+1G>C and c.463+2T>C) and within exon 3 (c.506T>C, p.Leu169Pro). No difference was observed regarding the frequency of mutations in exposed versus unexposed groups: among the clear cell RCC, 25 had been exposed to TCE and 23 had no history of occupational exposure to TCE. Two patients with a mutation were identified in each group. Conclusion This study does not confirm the association between the number and type of VHL gene mutations and exposure to TCE previously described.

Published
2007
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6. Is the gene encoding Chibby implicated as a tumour suppressor in colorectal cancer ?

Author

Beaune Philippe, Berger Anne, Goasguen Nicolas, Lièvre Astrid, Teboul David, Gad Sophie, and Laurent-Puig Pierre

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background A novel member of the Wnt signalling pathway, Chibby, was recently identified. This protein inhibits Wnt/β-catenin mediated transcriptional activation by competing with Lef-1 (the transcription factor and target of β-catenin) to bind to β-catenin. This suggests that Chibby could be a tumour suppressor protein. The C22orf2 gene coding Chibby is located on chromosome 22, a region recurrently lost in colorectal cancer. Activation of the Wnt pathway is a major feature of colorectal cancer and occurs through inactivation of APC or activation of β-catenin. All of this led us to analyse the possible implication of Chibby in colorectal carcinogenesis. Methods First, 36 tumour and matched normal colonic mucosa DNA were genotyped with five microsatellite markers located on chromosome 22 to search for loss of heterozygosity. Then, mutation screening of the C22orf2 coding sequence and splice sites was performed in the 36 tumour DNA. Finally, expression of Chibby was analysed by quantitative RT-PCR on 10 patients, 4 with loss of heterozygosity (LOH) on chromosome 22. Results Loss of heterozygosity involving the C22orf2 region was detected in 11 out of 36 patients (30%). Sequencing analysis revealed a known variant, rs3747174, in exon 5: T321C leading to a silent amino acid polymorphism A107A. Allelic frequencies were 0.69 and 0.31 for T and C variants respectively. No other mutation was detected. Among the 10 patients studied, expression analysis revealed that Chibby is overexpressed in 2 tumours and underexpressed in 1. No correlations were found with 22q LOH status. Conclusion As no somatic mutation was detected in C22orf2 in 36 colorectal tumour DNA, our results do not support the implication of Chibby as a tumour suppressor in colorectal carcinogenesis. This was supported by the absence of underexpression of Chibby among the tumour samples with 22q LOH. The implication of other Wnt pathway members remains to be identified to explain the part of colorectal tumours without mutation in APC and β-catenin.

Published
2004
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7. Hypoxia as a potential inducer of immune tolerance, tumor plasticity and a driver of tumor mutational burden: Impact on cancer immunotherapy

Author

Khouzam, Raefa Abou, primary, Janji, Bassam, additional, Thiery, Jerome, additional, Zaarour, Rania Faouzi, additional, Chamseddine, Ali N, additional, Mayr, Hemma, additional, Savagner, Pierre, additional, Kieda, Claudine, additional, Gad, Sophie, additional, Buart, Stéphanie, additional, Lehn, Jean–Marie, additional, Limani, Perparim, additional, and Chouaib, Salem, additional

Published
2023
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8. Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Author

Lenglet, Marion, Robriquet, Florence, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J.L., Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R., Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C., Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, and Gardie, Betty

Published
2018
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9. Supplementary Figure 2 from MET Is a Potential Target across All Papillary Renal Cell Carcinomas: Result from a Large Molecular Study of pRCC with CGH Array and Matching Gene Expression Array

Author

Albiges, Laurence, primary, Guegan, Justine, primary, Le Formal, Audrey, primary, Verkarre, Virginie, primary, Rioux-Leclercq, Nathalie, primary, Sibony, Mathilde, primary, Bernhard, Jean-Christophe, primary, Camparo, Philippe, primary, Merabet, Zahira, primary, Molinie, Vincent, primary, Allory, Yves, primary, Orear, Cedric, primary, Couvé, Sophie, primary, Gad, Sophie, primary, Patard, Jean-Jacques, primary, and Escudier, Bernard, primary

Published
2023
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10. Supplementary Figure 1 from MET Is a Potential Target across All Papillary Renal Cell Carcinomas: Result from a Large Molecular Study of pRCC with CGH Array and Matching Gene Expression Array

Author

Albiges, Laurence, primary, Guegan, Justine, primary, Le Formal, Audrey, primary, Verkarre, Virginie, primary, Rioux-Leclercq, Nathalie, primary, Sibony, Mathilde, primary, Bernhard, Jean-Christophe, primary, Camparo, Philippe, primary, Merabet, Zahira, primary, Molinie, Vincent, primary, Allory, Yves, primary, Orear, Cedric, primary, Couvé, Sophie, primary, Gad, Sophie, primary, Patard, Jean-Jacques, primary, and Escudier, Bernard, primary

Published
2023
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11. Supplementary Tables 1 - 7 and Figures 1 - 3 from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis

Author

Couvé, Sophie, primary, Ladroue, Charline, primary, Laine, Elodie, primary, Mahtouk, Karène, primary, Guégan, Justine, primary, Gad, Sophie, primary, Le Jeune, Hélène, primary, Le Gentil, Marion, primary, Nuel, Gregory, primary, Kim, William Y., primary, Lecomte, Bernard, primary, Pagès, Jean-Christophe, primary, Collin, Christine, primary, Lasne, Françoise, primary, Benusiglio, Patrick R., primary, Bressac-de Paillerets, Brigitte, primary, Feunteun, Jean, primary, Lazar, Vladimir, primary, Gimenez-Roqueplo, Anne-Paule, primary, Mazure, Nathalie M., primary, Dessen, Philippe, primary, Tchertanov, Luba, primary, Mole, David R., primary, Kaelin, William, primary, Ratcliffe, Peter, primary, Richard, Stéphane, primary, and Gardie, Betty, primary

Published
2023
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12. Data from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis

Author

Couvé, Sophie, primary, Ladroue, Charline, primary, Laine, Elodie, primary, Mahtouk, Karène, primary, Guégan, Justine, primary, Gad, Sophie, primary, Le Jeune, Hélène, primary, Le Gentil, Marion, primary, Nuel, Gregory, primary, Kim, William Y., primary, Lecomte, Bernard, primary, Pagès, Jean-Christophe, primary, Collin, Christine, primary, Lasne, Françoise, primary, Benusiglio, Patrick R., primary, Bressac-de Paillerets, Brigitte, primary, Feunteun, Jean, primary, Lazar, Vladimir, primary, Gimenez-Roqueplo, Anne-Paule, primary, Mazure, Nathalie M., primary, Dessen, Philippe, primary, Tchertanov, Luba, primary, Mole, David R., primary, Kaelin, William, primary, Ratcliffe, Peter, primary, Richard, Stéphane, primary, and Gardie, Betty, primary

Published
2023
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13. Supplementary Data from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis

Author

Couvé, Sophie, primary, Ladroue, Charline, primary, Laine, Elodie, primary, Mahtouk, Karène, primary, Guégan, Justine, primary, Gad, Sophie, primary, Le Jeune, Hélène, primary, Le Gentil, Marion, primary, Nuel, Gregory, primary, Kim, William Y., primary, Lecomte, Bernard, primary, Pagès, Jean-Christophe, primary, Collin, Christine, primary, Lasne, Françoise, primary, Benusiglio, Patrick R., primary, Bressac-de Paillerets, Brigitte, primary, Feunteun, Jean, primary, Lazar, Vladimir, primary, Gimenez-Roqueplo, Anne-Paule, primary, Mazure, Nathalie M., primary, Dessen, Philippe, primary, Tchertanov, Luba, primary, Mole, David R., primary, Kaelin, William, primary, Ratcliffe, Peter, primary, Richard, Stéphane, primary, and Gardie, Betty, primary

Published
2023
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15. Involvement of PBRM1 in VHL disease‑associated clear cell renal cell carcinoma and its putative relationship with the HIF pathway

Author

Gad, Sophie, primary, Le Teuff, Gwenaël, additional, Nguyen, Baptiste, additional, Verkarre, Virginie, additional, Duchatelle, Veronique, additional, Molinie, Vincent, additional, Posseme, Katia, additional, Grandon, Benjamin, additional, Da Costa, Melanie, additional, Job, Bastien, additional, Meurice, Guillaume, additional, Droin, Nathalie, additional, Mejean, Arnaud, additional, Couve, Sophie, additional, Renaud, Flore, additional, Gardie, Betty, additional, Teh, Bin, additional, Richard, Stephane, additional, and Ferlicot, Sophie, additional

Published
2021
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16. A germline mutation in PBRM1 predisposes to renal cell carcinoma

Author

Benusiglio, Patrick R, Couvé, Sophie, Gilbert-Dussardier, Brigitte, Deveaux, Sophie, Le Jeune, Hélène, Da Costa, Mélanie, Fromont, Gaëlle, Memeteau, Françoise, Yacoub, Mokrane, Coupier, Isabelle, Leroux, Dominique, Méjean, Arnaud, Escudier, Bernard, Giraud, Sophie, Gimenez-Roqueplo, Anne-Paule, Blondel, Christophe, Frouin, Eric, Teh, Bin T, Ferlicot, Sophie, Bressac-de Paillerets, Brigitte, Richard, Stéphane, and Gad, Sophie

Published
2015
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17. A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Author

Bertolotto, Corine, Lesueur, Fabienne, Giuliano, Sandy, Strub, Thomas, de Lichy, Mahaut, Bille, Karine, Dessen, Philippe, d’Hayer, Benoit, Mohamdi, Hamida, Remenieras, Audrey, Maubec, Eve, de la Fouchardière, Arnaud, Molinié, Vincent, Vabres, Pierre, Dalle, Stéphane, Poulalhon, Nicolas, Martin-Denavit, Tanguy, Thomas, Luc, Andry-Benzaquen, Pascale, Dupin, Nicolas, Boitier, Françoise, Rossi, Annick, Perrot, Jean-Luc, Labeille, Bruno, Robert, Caroline, Escudier, Bernard, Caron, Olivier, Brugières, Laurence, Saule, Simon, Gardie, Betty, Gad, Sophie, Richard, Stéphane, Couturier, Jérôme, Teh, Bin Tean, Ghiorzo, Paola, Pastorino, Lorenza, Puig, Susana, Badenas, Celia, Olsson, Hakan, Ingvar, Christian, Rouleau, Etienne, Lidereau, Rosette, Bahadoran, Philippe, Vielh, Philippe, Corda, Eve, Blanché, Hélène, Zelenika, Diana, Galan, Pilar, Chaudru, Valérie, Lenoir, Gilbert M., Lathrop, Mark, Davidson, Irwin, Avril, Marie-Françoise, Demenais, Florence, Ballotti, Robert, and Bressac-de Paillerets, Brigitte

Published
2011
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18. PHD2 mutation and congenital erythrocytosis with paraganglioma

Author

Ladroue, Charline, Carcenac, Romain, Leporrier, Michel, Gad, Sophie, Le Hello, Claire, Galateau-Salle, Francoise, Feunteun, Jean, Pouyssegur, Jacques, Richard, Stephane, and Gardie, Betty

Subjects
Polycythemia -- Usage, Polycythemia -- Health aspects, Gene therapy -- Usage, Gene therapy -- Health aspects
Abstract

The role of prolyl hydroxylase domain 2 gene (PHD2) proteins in the regulation of hypoxia-inducible factor (HIF) that affects patients with familial erythrocytosis is discussed. The mutation of the PHD2 gene is believed to be a tumor-suppressant gene.

Published
2008

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

Author

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

Published
2002
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25. Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Author

Bertolotto, Corine, Lesueur, Fabienne, Giuliano, Sandy, Strub, Thomas, de Lichy, Mahaut, Bille, Karine, Dessen, Philippe, d%apos;Hayer, Benoit, Mohamdi, Hamida, Remenieras, Audrey, Maubec, Eve, de la Fouchardière, Arnaud, Molinié, Vincent, Vabres, Pierre, Dalle, Stéphane, Poulalhon, Nicolas, Martin-Denavit, Tanguy, Thomas, Luc, Andry-Benzaquen, Pascale, Dupin, Nicolas, Boitier, Françoise, Rossi, Annick, Perrot, Jean-Luc, Labeille, Bruno, Robert, Caroline, Escudier, Bernard, Caron, Olivier, Brugières, Laurence, Saule, Simon, Gardie, Betty, Gad, Sophie, Richard, Stéphane, Couturier, Jérôme, Teh, Bin Tean, Ghiorzo, Paola, Pastorino, Lorenza, Puig, Susana, Badenas, Celia, Olsson, Hakan, Ingvar, Christian, Rouleau, Etienne, Lidereau, Rosette, Bahadoran, Philippe, Vielh, Philippe, Corda, Eve, Blanché, Hélène, Zelenika, Diana, Galan, Pilar, Aubin, François, Bachollet, Bertrand, Becuwe, Céline, Berthet, Pascaline, Jean Bignon, Yves, Bonadona, Valérie, Bonafe, Jean-Louis, Bonnet-Dupeyron, Marie-Noëlle, Cambazard, Fréderic, Chevrant-Breton, Jacqueline, Coupier, Isabelle, Dalac, Sophie, Demange, Liliane, d%apos;Incan, Michel, Dugast, Catherine, Faivre, Laurence, Vincent-Fétita, Lynda, Gauthier-Villars, Marion, Gilbert, Brigitte, Grange, Florent, Grob, Jean-Jacques, Humbert, Philippe, Janin, Nicolas, Joly, Pascal, Kerob, Delphine, Lasset, Christine, Leroux, Dominique, Levang, Julien, Limacher, Jean-Marc, Livideanu, Cristina, Longy, Michel, Lortholary, Alain, Stoppa-Lyonnet, Dominique, Mansard, Sandrine, Mansuy, Ludovic, Marrou, Karine, Matéus, Christine, Maugard, Christine, Meyer, Nicolas, Nogues, Catherine, Souteyrand, Pierre, Venat-Bouvet, Laurence, Zattara, Hélène, Chaudru, Valérie, Lenoir, Gilbert M., Lathrop, Mark, Davidson, Irwin, Avril, Marie-Françoise, Demenais, Florence, Ballotti, Robert, and Bressac-de Paillerets, Brigitte

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Corine Bertolotto; Fabienne Lesueur; Sandy Giuliano; Thomas Strub; Mahaut de Lichy; Karine Bille; Philippe Dessen; Benoit d%apos;Hayer; Hamida Mohamdi; Audrey Remenieras; Eve Maubec; Arnaud de la Fouchardière; Vincent Molinié; [...]

Published
2016
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28. Identification of a new exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

Author

UCL - (SLuc) Centre de génétique médicale UCL, Lenglet, Marion, Robriquet, Florence, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J L, Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R, Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C, Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, Gardie, Betty, UCL - (SLuc) Centre de génétique médicale UCL, Lenglet, Marion, Robriquet, Florence, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J L, Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R, Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C, Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, and Gardie, Betty

Abstract

Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a homozygous p.Arg200Trp mutation in the von Hippel-Lindau () gene. Since this discovery, additional mutations have been identified in patients with congenital erythrocytosis, in a homozygous or compound-heterozygous state. is a major tumor suppressor gene, mutations in which were first described in patients presenting with VHL disease, which is characterized by the development of highly vascularized tumors. Here, we identify a new cryptic exon (termed E1') deep in intron 1 that is naturally expressed in many tissues. More importantly, we identify mutations in E1' in 7 families with erythrocytosis (1 homozygous case and 6 compound-heterozygous cases with a mutation in E1' in addition to a mutation in coding sequences) and in 1 large family with typical VHL disease but without any alteration in the other exons. In this study, we show that the mutations induced a dysregulation of splicing with excessive retention of E1' and were associated with a downregulation of VHL protein expression. In addition, we demonstrate a pathogenic role for synonymous mutations in exon 2 that altered splicing through E2-skipping in 5 families with erythrocytosis or VHL disease. In all the studied cases, the mutations differentially affected splicing, correlating with phenotype severity. This study demonstrates that cryptic exon retention and exon skipping are new alterations and reveals a novel complex splicing regulation of the gene. These findings open new avenues for diagnosis and research regarding the VHL-related hypoxia-signaling pathway.

Published
2018

29. Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease

Author

Gattolliat, Charles-Henry, primary, Couv�, Sophie, additional, Meurice, Guillaume, additional, Or�ar, C�dric, additional, Droin, Nathalie, additional, Chiquet, Mathieu, additional, Ferlicot, Sophie, additional, Verkarre, Virginie, additional, Vasiliu, Viorel, additional, Molini�, Vincent, additional, M�jean, Arnaud, additional, Dessen, Philippe, additional, Giraud, Sophie, additional, Bressac-De-Paillerets, Brigitte, additional, Gardie, Betty, additional, Tean Teh, Bin, additional, Richard, St�phane, additional, and Gad, Sophie, additional

Published
2018
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31. Renal Cell Carcinoma Programmed Death-ligand 1, a New Direct Target of Hypoxia-inducible Factor-2 Alpha, is Regulated by von Hippel–Lindau Gene Mutation Status

Author

Messai, Yosra, primary, Gad, Sophie, additional, Noman, Muhammad Zaeem, additional, Le Teuff, Gwenael, additional, Couve, Sophie, additional, Janji, Bassam, additional, Kammerer, Solenne Florence, additional, Rioux-Leclerc, Nathalie, additional, Hasmim, Meriem, additional, Ferlicot, Sophie, additional, Baud, Véronique, additional, Mejean, Arnaud, additional, Mole, David Robert, additional, Richard, Stéphane, additional, Eggermont, Alexander M.M., additional, Albiges, Laurence, additional, Mami-Chouaib, Fathia, additional, Escudier, Bernard, additional, and Chouaib, Salem, additional

Published
2016
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32. Isolation and characterization of renal cancer stem cells from patient-derived xenografts

Author

Hasmim, Meriem, primary, Bruno, Stefania, additional, Azzi, Sandy, additional, Gallerne, Cindy, additional, Michel, Julien Giron, additional, Chiabotto, Giulia, additional, Lecoz, Vincent, additional, Romei, Cristina, additional, Spaggiari, Grazia Maria, additional, Pezzolo, Annalisa, additional, Pistoia, Vito, additional, Angevin, Eric, additional, Gad, Sophie, additional, Ferlicot, Sophie, additional, Messai, Yosra, additional, Kieda, Claudine, additional, Clay, Denis, additional, Sabatini, Federica, additional, Escudier, Bernard, additional, Camussi, Giovanni, additional, Eid, Pierre, additional, Azzarone, Bruno, additional, and Chouaib, Salem, additional

Published
2015
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33. A germline mutation inPBRM1predisposes to renal cell carcinoma

Author

Benusiglio, Patrick R, primary, Couvé, Sophie, additional, Gilbert-Dussardier, Brigitte, additional, Deveaux, Sophie, additional, Le Jeune, Hélène, additional, Da Costa, Mélanie, additional, Fromont, Gaëlle, additional, Memeteau, Françoise, additional, Yacoub, Mokrane, additional, Coupier, Isabelle, additional, Leroux, Dominique, additional, Méjean, Arnaud, additional, Escudier, Bernard, additional, Giraud, Sophie, additional, Gimenez-Roqueplo, Anne-Paule, additional, Blondel, Christophe, additional, Frouin, Eric, additional, Teh, Bin T, additional, Ferlicot, Sophie, additional, Bressac-de Paillerets, Brigitte, additional, Richard, Stéphane, additional, and Gad, Sophie, additional

Published
2015
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34. A Comprehensive Study of the VHL-R200W Chuvash Polycythemia Mutation Reveals a Gradual Dysregulation of the Hypoxia Pathway in Oncogenesis

Author

Gardie, Betty, primary, Couvé, Sophie, additional, Ladroue, Charline, additional, Laine, Elodie, additional, Mahtouk, Karène, additional, Guégan, Justine, additional, Gad, Sophie, additional, Le Jeune, Hélène, additional, Lecomte, Bernard, additional, Pagès, Jean-Christophe, additional, Benusiglio, Patrick, additional, Bressac-de Paillerets, Brigitte, additional, Feunteun, Jean, additional, Dessen, Philippe, additional, Hermouet, Sylvie, additional, Tchertanov, Luba, additional, Mole, David R., additional, Kaelin, William G., additional, Ratcliffe, Peter J, additional, and Richard, Stephane, additional

Published
2014
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35. Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis

Author

Couvé, Sophie, primary, Ladroue, Charline, additional, Laine, Elodie, additional, Mahtouk, Karène, additional, Guégan, Justine, additional, Gad, Sophie, additional, Le Jeune, Hélène, additional, Le Gentil, Marion, additional, Nuel, Gregory, additional, Kim, William Y., additional, Lecomte, Bernard, additional, Pagès, Jean-Christophe, additional, Collin, Christine, additional, Lasne, Françoise, additional, Benusiglio, Patrick R., additional, Bressac-de Paillerets, Brigitte, additional, Feunteun, Jean, additional, Lazar, Vladimir, additional, Gimenez-Roqueplo, Anne-Paule, additional, Mazure, Nathalie M., additional, Dessen, Philippe, additional, Tchertanov, Luba, additional, Mole, David R., additional, Kaelin, William, additional, Ratcliffe, Peter, additional, Richard, Stéphane, additional, and Gardie, Betty, additional

Published
2014
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37. MET Is a Potential Target across All Papillary Renal Cell Carcinomas: Result from a Large Molecular Study of pRCC with CGH Array and Matching Gene Expression Array

Author

Albiges, Laurence, primary, Guegan, Justine, additional, Le Formal, Audrey, additional, Verkarre, Virginie, additional, Rioux-Leclercq, Nathalie, additional, Sibony, Mathilde, additional, Bernhard, Jean-Christophe, additional, Camparo, Philippe, additional, Merabet, Zahira, additional, Molinie, Vincent, additional, Allory, Yves, additional, Orear, Cedric, additional, Couvé, Sophie, additional, Gad, Sophie, additional, Patard, Jean-Jacques, additional, and Escudier, Bernard, additional

Published
2014
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38. CGH array and matching gene expression profiling for identification of distinct molecular variants among type II papillary renal cell carcinomas.

Author

Albiges, Laurence, primary, Auger, Nathalie, additional, Le Formal, Audrey, additional, Verhoest, Gregory, additional, Timsit, Marc Olivier, additional, Ravaud, Alain, additional, Neuzillet, Yann, additional, Baumert, Herve, additional, Salomon, Laurent, additional, Couve, Sophie, additional, Orear, Cedric, additional, Meurice, Guillaume, additional, Patard, Jean Jacques, additional, GAD, Sophie, additional, Choueiri, Toni K., additional, and Escudier, Bernard J., additional

Published
2014
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39. Identification of a new VHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Author

Lenglet, Marion, Robriquet, Florence, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J.L., Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R., Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C., Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, and Gardie, Betty

Abstract

Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a homozygous p.Arg200Trp mutation in the von Hippel-Lindau (VHL) gene. Since this discovery, additional VHLmutations have been identified in patients with congenital erythrocytosis, in a homozygous or compound-heterozygous state. VHLis a major tumor suppressor gene, mutations in which were first described in patients presenting with VHL disease, which is characterized by the development of highly vascularized tumors. Here, we identify a new VHLcryptic exon (termed E1′) deep in intron 1 that is naturally expressed in many tissues. More importantly, we identify mutations in E1′ in 7 families with erythrocytosis (1 homozygous case and 6 compound-heterozygous cases with a mutation in E1′ in addition to a mutation in VHLcoding sequences) and in 1 large family with typical VHL disease but without any alteration in the other VHLexons. In this study, we show that the mutations induced a dysregulation of VHLsplicing with excessive retention of E1′ and were associated with a downregulation of VHL protein expression. In addition, we demonstrate a pathogenic role for synonymous mutations in VHLexon 2 that altered splicing through E2-skipping in 5 families with erythrocytosis or VHL disease. In all the studied cases, the mutations differentially affected splicing, correlating with phenotype severity. This study demonstrates that cryptic exon retention and exon skipping are new VHLalterations and reveals a novel complex splicing regulation of the VHLgene. These findings open new avenues for diagnosis and research regarding the VHL-related hypoxia-signaling pathway.

Published
2018
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40. Germline BAP1 Mutations Predispose to Renal Cell Carcinomas

Author

Popova, Tatiana, primary, Hebert, Lucie, additional, Jacquemin, Virginie, additional, Gad, Sophie, additional, Caux-Moncoutier, Virginie, additional, Dubois-d’Enghien, Catherine, additional, Richaudeau, Bénédicte, additional, Renaudin, Xavier, additional, Sellers, Jason, additional, Nicolas, André, additional, Sastre-Garau, Xavier, additional, Desjardins, Laurence, additional, Gyapay, Gabor, additional, Raynal, Virginie, additional, Sinilnikova, Olga M., additional, Andrieu, Nadine, additional, Manié, Elodie, additional, de Pauw, Antoine, additional, Gesta, Paul, additional, Bonadona, Valérie, additional, Maugard, Christine M., additional, Penet, Clotilde, additional, Avril, Marie-Françoise, additional, Barillot, Emmanuel, additional, Cabaret, Odile, additional, Delattre, Olivier, additional, Richard, Stéphane, additional, Caron, Olivier, additional, Benfodda, Meriem, additional, Hu, Hui-Han, additional, Soufir, Nadem, additional, Bressac-de Paillerets, Brigitte, additional, Stoppa-Lyonnet, Dominique, additional, and Stern, Marc-Henri, additional

Published
2013
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42. Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

Author

Klomp, Jeff A, primary, Petillo, David, additional, Niemi, Natalie M, additional, Dykema, Karl J, additional, Chen, Jindong, additional, Yang, Ximing J, additional, Sääf, Annika, additional, Zickert, Peter, additional, Aly, Markus, additional, Bergerheim, Ulf, additional, Nordenskjöld, Magnus, additional, Gad, Sophie, additional, Giraud, Sophie, additional, Denoux, Yves, additional, Yonneau, Laurent, additional, Méjean, Arnaud, additional, Vasiliu, Viorel, additional, Richard, Stéphane, additional, MacKeigan, Jeffrey P, additional, Teh, Bin T, additional, and Furge, Kyle A, additional

Published
2010
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43. Abstract 5011: Potential tumor suppressor role of PHD2 : functional study of mutations identified in germline DNA of patients with congenital polycythemia with or without paraganglioma

Author

Gardie, Betty, primary, Ladroue, Charline, additional, Carcenac, Romain, additional, Gad, Sophie, additional, Barrois, Michel, additional, Bombled, Johny, additional, Hermine, Olivier, additional, Leporrier, Michel, additional, Baruchel, André, additional, Jean-Claude, Kiladjian, additional, Giraud, Sophie, additional, Mazure, Nathalie, additional, Pouyssegur, Jacques, additional, and Richard, Stéphane, additional

Published
2010
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44. The ancient mammalian KRAB zinc finger gene cluster on human chromosome 8q24.3 illustrates principles of C2H2 zinc finger evolution associated with unique expression profiles in human tissues

Author

Lorenz, Peter, primary, Dietmann, Sabine, additional, Wilhelm, Thomas, additional, Koczan, Dirk, additional, Autran, Sandra, additional, Gad, Sophie, additional, Wen, Gaiping, additional, Ding, Guohui, additional, Li, Yixue, additional, Rousseau-Merck, Marie-Françoise, additional, and Thiesen, Hans-Juergen, additional

Published
2010
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45. PHD2Mutation and Congenital Erythrocytosis with Paraganglioma

Author

Ladroue, Charline, primary, Carcenac, Romain, additional, Leporrier, Michel, additional, Gad, Sophie, additional, Le Hello, Claire, additional, Galateau-Salle, Françoise, additional, Feunteun, Jean, additional, Pouysségur, Jacques, additional, Richard, Stéphane, additional, and Gardie, Betty, additional

Published
2008
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46. Familial Non-VHL Clear Cell (Conventional) Renal Cell Carcinoma: Clinical Features, Segregation Analysis, and Mutation Analysis of FLCN

Author

Woodward, Emma R., primary, Ricketts, Christopher, additional, Killick, Pip, additional, Gad, Sophie, additional, Morris, M.R., additional, Kavalier, Fred, additional, Hodgson, Shirley V., additional, Giraud, Sophie, additional, Bressac-de Paillerets, Brigitte, additional, Chapman, Cyril, additional, Escudier, Bernard, additional, Latif, Farida, additional, Richard, Stéphane, additional, and Maher, Eamonn R., additional

Published
2008
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