Search Results - "Forey, Nathalie"

TERT Promoter Mutations as Simple and Non-Invasive Urinary Biomarkers for the Detection of Urothelial Bladder Cancer in a High-Risk Region by Pakmanesh, Hamid, Anvari, Omid, Forey, Nathalie, Weiderpass, Elisabete, Malekpourafshar, Reza, Iranpour, Maryam, Shahesmaeili, Armita, Ahmadi, Nahid, Bazrafshan, Azam, Zendehdel, Kazem, Kannengiesser, Caroline, Ba, Ibrahima, McKay, James, Zvereva, Maria, Hosen, Md Ismail, Sheikh, Mahdi, Calvez-Kelm, Florence Le

“…Bladder cancer (BC) is the 10th most common cancer in the world. While there are FDA-approved urinary assays to detect BC, none have demonstrated sufficient…”
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Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma by Vinayanuwattikun, Chanida, Le Calvez-Kelm, Florence, Abedi-Ardekani, Behnoush, Zaridze, David, Mukeria, Anush, Voegele, Catherine, Vallée, Maxime, Purnomosari, Dewajani, Forey, Nathalie, Durand, Geoffroy, Byrnes, Graham, Mckay, James, Brennan, Paul, Scelo, Ghislaine

“…To examine the diversity of somatic alterations and clonal evolution according to aggressiveness of disease, nineteen tumor-blood pairs of ‘formerly…”
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Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer by Tavtigian, Sean V., Oefner, Peter J., Babikyan, Davit, Hartmann, Anne, Healey, Sue, Le Calvez-Kelm, Florence, Lesueur, Fabienne, Byrnes, Graham B., Chuang, Shu-Chun, Forey, Nathalie, Feuchtinger, Corinna, Gioia, Lydie, Hall, Janet, Hashibe, Mia, Herte, Barbara, McKay-Chopin, Sandrine, Thomas, Alun, Vallée, Maxime P., Voegele, Catherine, Webb, Penelope M., Whiteman, David C., Sangrajrang, Suleeporn, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., John, Esther M., Chenevix-Trench, Georgia

“…The susceptibility gene for ataxia telangiectasia, ATM, is also an intermediate-risk breast-cancer-susceptibility gene. However, the spectrum and frequency…”
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Urinary TERT promoter mutations are detectable up to 10 years prior to clinical diagnosis of bladder cancer: Evidence from the Golestan Cohort Study by Hosen, Md Ismail, Sheikh, Mahdi, Zvereva, Maria, Scelo, Ghislaine, Forey, Nathalie, Durand, Geoffroy, Voegele, Catherine, Poustchi, Hossein, Khoshnia, Masoud, Roshandel, Gholamreza, Sotoudeh, Masoud, Nikmanesh, Arash, Etemadi, Arash, Avogbe, Patrice Hodonou, Chopard, Priscilia, Delhomme, Tiffany Myriam, Foll, Matthieu, Manel, Arnaud, Vian, Emmanuel, Weiderpass, Elisabete, Kamangar, Farin, Boffetta, Paolo, Pharaoh, Paul D., Dawsey, Sanford M., Abnet, Christian C., Brennan, Paul, McKay, James, Malekzadeh, Reza, Calvez-Kelm, Florence Le

“…Detecting pre-clinical bladder cancer (BC) using urinary biomarkers may provide a valuable opportunity for screening and management. Telomerase reverse…”
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Detection of Circulating HPV16 DNA as a Biomarker for Cervical Cancer by a Bead-Based HPV Genotyping Assay by Galati, Luisa, Combes, Jean-Damien, Le Calvez-Kelm, Florence, McKay-Chopin, Sandrine, Forey, Nathalie, Ratel, Mathis, McKay, James, Waterboer, Tim, Schroeder, Lea, Clifford, Gary, Tommasino, Massimo, Gheit, Tarik

“…Human papillomavirus (HPV) circulating tumor DNA (HPV ctDNA) was proposed as a biomarker for the detection and disease monitoring of HPV-related cancers. One…”
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Urinary TERT promoter mutations as non-invasive biomarkers for the comprehensive detection of urothelial cancer by Avogbe, Patrice Hodonou, Manel, Arnaud, Vian, Emmanuel, Durand, Geoffroy, Forey, Nathalie, Voegele, Catherine, Zvereva, Maria, Hosen, Md Ismail, Meziani, Sonia, De Tilly, Berengere, Polo, Gilles, Lole, Olesia, Francois, Pauline, Delhomme, Tiffany Myriam, Carreira, Christine, Monteiro-Reis, Sara, Henrique, Rui, Abedi-Ardekani, Behnoush, Byrnes, Graham, Foll, Matthieu, Weiderpass, Elisabete, McKay, James, Jeronimo, Carmen, Scelo, Ghislaine, Le Calvez-Kelm, Florence

“…Recurrent mutations in the promoter of the telomerase reverse transcriptase (TERT) gene (C228T and C250T) detected in tumours and cells shed into urine of…”
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Revealing the Molecular Portrait of Triple Negative Breast Tumors in an Understudied Population through Omics Analysis of Formalin-Fixed and Paraffin-Embedded Tissues by Vaca-Paniagua, Felipe, Alvarez-Gomez, Rosa María, Maldonado-Martínez, Hector Aquiles, Pérez-Plasencia, Carlos, Fragoso-Ontiveros, Veronica, Lasa-Gonsebatt, Federico, Herrera, Luis Alonso, Cantú, David, Bargallo-Rocha, Enrique, Mohar, Alejandro, Durand, Geoffroy, Forey, Nathalie, Voegele, Catherine, Vallée, Maxime, Le Calvez-Kelm, Florence, McKay, James, Ardin, Maude, Villar, Stéphanie, Zavadil, Jiri, Olivier, Magali

“…Triple negative breast cancer (TNBC), defined by the lack of expression of the estrogen receptor, progesterone receptor and human epidermal receptor 2, is an…”
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RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study by Le Calvez-Kelm, Florence, Oliver, Javier, Damiola, Francesca, Forey, Nathalie, Robinot, Nivonirina, Durand, Geoffroy, Voegele, Catherine, Vallée, Maxime P, Byrnes, Graham, Registry, Breast Cancer Family, Hopper, John L, Southey, Melissa C, Andrulis, Irene L, John, Esther M, Tavtigian, Sean V, Lesueur, Fabienne

“…Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved in the DNA homologous recombination repair…”
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Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis by Nguyen-Dumont, Tú, Calvez-Kelm, Florence Le, Forey, Nathalie, McKay-Chopin, Sandrine, Garritano, Sonia, Gioia-Patricola, Lydie, De Silva, Deepika, Weigel, Ron, Sangrajrang, Suleeporn, Lesueur, Fabienne, Tavtigian, Sean V.

“…Mutation scanning using high‐resolution melting curve analysis (HR‐melt) is an effective and sensitive method to detect sequence variations. However, the…”
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Rare key functional domain missense substitutions in MRE11A, RAD50, and NBNcontribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study by Damiola, Francesca, Pertesi, Maroulio, Oliver, Javier, Le Calvez-Kelm, Florence, Voegele, Catherine, Young, Erin L, Robinot, Nivonirina, Forey, Nathalie, Durand, Geoffroy, Vallñe, Maxime P, Tao, Kayoko, Roane, Terrell C, Williams, Gareth J, Hopper, John L, Southey, Melissa C, Andrulis, Irene L, John, Esther M, Goldgar, David E, Lesueur, Fabienne, Tavtigian, Sean V

“…Abstract Introduction The MRE11A-RAD50-Nibrin (MRN) complex plays several critical roles related to repair of DNA double-strand breaks. Inherited mutations in…”
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Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2 by Nguyen-Dumont, Tú, Jordheim, Lars P, Michelon, Jocelyne, Forey, Nathalie, McKay-Chopin, Sandrine, Sinilnikova, Olga, Le Calvez-Kelm, Florence, Southey, Melissa C, Tavtigian, Sean V, Lesueur, Fabienne

“…The gene CHEK2 encodes a checkpoint kinase playing a key role in the DNA damage pathway. Though CHEK2 has been identified as an intermediate breast cancer…”
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Impaired Ig class switch in mice deficient for the X-linked lymphoproliferative disease gene Sap by Al-Alem, Umaima, Li, Cuiling, Forey, Nathalie, Relouzat, Francis, Fondanèche, Marie-Claude, Tavtigian, Sean V., Wang, Zhao-Qi, Latour, Sylvain, Yin, Luo

“…X-linked lymphoproliferative disease (XLP) is characterized by abnormal immune responses to Epstein-Barr virus attributed to inactivating mutations of the SAP…”
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C620R mutation of the murine ret proto‐oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes by Yin, Luo, Puliti, Aldamaria, Bonora, Elena, Evangelisti, Cecilia, Conti, Valerio, Tong, Wei‐Min, Medard, Jean‐Jacques, Lavoué, Marie‐France, Forey, Nathalie, Wang, Lily C., Manié, Serge, Morel, Gérard, Raccurt, Mireille, Wang, Zhao‐Qi, Romeo, Giovanni

“…Germline RET mutations are responsible for different inherited disorders: Hirschsprung disease (congenital aganglionic megacolon), caused by loss of function…”
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Simplex Droplet Digital PCR Assays for the Detection of TERT Promoter Mutations in Urine Samples for the Non-invasive Diagnosis of Urothelial Cancer by Zvereva, Maria, Hosen, Md Ismail, Forey, Nathalie, Sheikh, Mahdi, Kannengiesser, Caroline, Ba, Ibrahima, Manel, Arnaud, Vian, Emmanuel, Le Calvez-Kelm, Florence

“…Somatic mutations in the telomerase reverse transcriptase (TERT) promoter region are highly frequent in urothelial cancer (UC), and their detection in urine…”
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Identification of novel long non-coding RNAs deregulated in hepatocellular carcinoma using RNA-sequencing by Esposti, Davide Degli, Hernandez-Vargas, Hector, Voegele, Catherine, Fernandez-Jimenez, Nora, Forey, Nathalie, Bancel, Brigitte, Le Calvez-Kelm, Florence, McKay, James, Merle, Philippe, Herceg, Zdenko

“…Functional characterization of long non-coding RNAs (lncRNAs) and their pathological relevance is still a challenging task. Abnormal expression of a few long…”
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Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study by Damiola, Francesca, Pertesi, Maroulio, Oliver, Javier, Le Calvez-Kelm, Florence, Voegele, Catherine, Young, Erin L, Robinot, Nivonirina, Forey, Nathalie, Durand, Geoffroy, Vallée, Maxime P, Tao, Kayoko, Roane, Terrell C, Williams, Gareth J, Hopper, John L, Southey, Melissa C, Andrulis, Irene L, John, Esther M, Goldgar, David E, Lesueur, Fabienne, Tavtigian, Sean V

“…The MRE11A-RAD50-Nibrin (MRN) complex plays several critical roles related to repair of DNA double-strand breaks. Inherited mutations in the three components…”
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Development of Sensitive Droplet Digital PCR Assays for Detecting Urinary TERT Promoter Mutations as Non-Invasive Biomarkers for Detection of Urothelial Cancer by Hosen, Md Ismail, Forey, Nathalie, Durand, Geoffroy, Voegele, Catherine, Bilici, Selin, Avogbe, Patrice Hodonou, Delhomme, Tiffany Myriam, Foll, Matthieu, Manel, Arnaud, Vian, Emmanuel, Meziani, Sonia, De Tilly, Berengere, Polo, Gilles, Lole, Olesia, Francois, Pauline, Boureille, Antoine, Pisarev, Eduard, Salas, Andrei R O S E, Monteiro-Reis, Sara, Henrique, Rui, Byrnes, Graham, Jeronimo, Carmen, Scelo, Ghislaine, McKay, James D, Calvez-Kelm, Florence Le, Zvereva, Maria

“…Somatic mutations in the ( ) promoter regions are frequent events in urothelial cancer (UC) and their detection in urine (supernatant cell-free DNA or DNA from…”
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Abstract 171: Deciphering the role of long noncoding RNAs in the progression of hepatocellular carcinoma using next-generation sequencing by Degli Esposti, Davide, Voegele, Catherine, Cahais, Vincent, Forey, Nathalie, Le Calvez Kelm, Florence, McKay, James, Hernandez-Vargas, Hector, Herceg, Zdenko

“…Abstract Hepatocellular carcinoma (HCC) is the second most common cause of death from cancer worldwide, estimated to be responsible for nearly 746,000 deaths…”
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Low-Coverage Exome Sequencing Screen in Formalin-Fixed Paraffin-Embedded Tumors Reveals Evidence of Exposure to Carcinogenic Aristolochic Acid by Castells, Xavier, Karanović, Sandra, Ardin, Maude, Tomić, Karla, Xylinas, Evanguelos, Durand, Geoffroy, Villar, Stephanie, Forey, Nathalie, Le Calvez-Kelm, Florence, Voegele, Catherine, Karlović, Krešimir, Mišić, Maja, Dittrich, Damir, Dolgalev, Igor, McKay, James, Shariat, Shahrokh F, Sidorenko, Viktoria S, Fernandes, Andrea, Heguy, Adriana, Dickman, Kathleen G, Olivier, Magali, Grollman, Arthur P, Jelaković, Bojan, Zavadil, Jiri

“…Dietary exposure to cytotoxic and carcinogenic aristolochic acid (AA) causes severe nephropathy typically associated with urologic cancers. Monitoring of AA…”
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Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study by Le Calvez-Kelm, Florence, Lesueur, Fabienne, Damiola, Francesca, Vallée, Maxime, Voegele, Catherine, Babikyan, Davit, Durand, Geoffroy, Forey, Nathalie, McKay-Chopin, Sandrine, Robinot, Nivonirina, Nguyen-Dumont, Tù, Thomas, Alun, Byrnes, Graham B, Hopper, John L, Southey, Melissa C, Andrulis, Irene L, John, Esther M, Tavtigian, Sean V

“…Both protein-truncating variants and some missense substitutions in CHEK2 confer increased risk of breast cancer. However, no large-scale study has used full…”
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