Search Results - "Bonadona, Valérie"

Germline BAP1 Mutations Predispose to Renal Cell Carcinomas by Popova, Tatiana, Hebert, Lucie, Jacquemin, Virginie, Gad, Sophie, Caux-Moncoutier, Virginie, Dubois-d’Enghien, Catherine, Richaudeau, Bénédicte, Renaudin, Xavier, Sellers, Jason, Nicolas, André, Sastre-Garau, Xavier, Desjardins, Laurence, Gyapay, Gabor, Raynal, Virginie, Sinilnikova, Olga M., Andrieu, Nadine, Manié, Elodie, de Pauw, Antoine, Gesta, Paul, Bonadona, Valérie, Maugard, Christine M., Penet, Clotilde, Avril, Marie-Françoise, Barillot, Emmanuel, Cabaret, Odile, Delattre, Olivier, Richard, Stéphane, Caron, Olivier, Benfodda, Meriem, Hu, Hui-Han, Soufir, Nadem, Bressac-de Paillerets, Brigitte, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri

“…The genetic cause of some familial nonsyndromic renal cell carcinomas (RCC) defined by at least two affected first-degree relatives is unknown. By combining…”
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Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer by Labidi-Galy, S Intidhar, Olivier, Timothée, Rodrigues, Manuel, Ferraioli, Domenico, Derbel, Olfa, Bodmer, Alexandre, Petignat, Patrick, Rak, Beata, Chopin, Nicolas, Tredan, Olivier, Heudel, Pierre-Etienne, Stuckelberger, Sarah, Meeus, Pierre, Meraldi, Patrick, Viassolo, Valeria, Ayme, Aurélie, Chappuis, Pierre O, Stern, Marc-Henri, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Buisson, Adrien, Golmard, Lisa, Bonadona, Valérie, Ray-Coquard, Isabelle

“…BRCA2 plays a central role in homologous recombination by loading RAD51 on DNA breaks. The objective of this study is to determine whether the location of…”
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Immune checkpoint inhibitor sensitivity of DNA repair deficient tumors by Rochefort, Pauline, Desseigne, Françoise, Bonadona, Valérie, Dussart, Sophie, Coutzac, Clélia, Sarabi, Matthieu, la Fouchardiere, Christelle de

“…Faithful DNA replication is necessary to maintain genome stability and implicates a complex network with several pathways depending on DNA damage type:…”
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Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers by Bougeard, Gaëlle, Renaux-Petel, Mariette, Flaman, Jean-Michel, Charbonnier, Camille, Fermey, Pierre, Belotti, Muriel, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Consolino, Emilie, Brugières, Laurence, Caron, Olivier, Benusiglio, Patrick R, Bressac-de Paillerets, Brigitte, Bonadona, Valérie, Bonaïti-Pellié, Catherine, Tinat, Julie, Baert-Desurmont, Stéphanie, Frebourg, Thierry

“…The aim of the study was to update the description of Li-Fraumeni syndrome (LFS), a remarkable cancer predisposition characterized by extensive clinical…”
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Significant contribution of germline BRCA2 rearrangements in male breast cancer families by TOURNIER, Isabelle, BRESSAC-DE PAILLERETS, Brigitte, LORTHOLARY, Alain, CHAPPUIS, Pierre, BOURDON, Violaine, BONADONA, Valérie, MAUGARD, Christine, GILBERT, Brigitte, NOGUES, Catherine, FREBOURG, Thierry, TOSI, Mario, SOBOL, Hagay, STOPPA-LYONNET, Dominique, LIDEREAU, Rosette, BARROIS, Michel, MAZOYER, Sylvie, COULET, Florence, HARDOUIN, Agnès, CHOMPRET, Agnès

“…Although screening for large deletions or duplications of the BRCA1 gene is becoming a routine component of the molecular diagnosis of familial breast cancer,…”
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Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome by Bonadona, Valérie, Bonaïti, Bernard, Olschwang, Sylviane, Grandjouan, Sophie, Huiart, Laetitia, Longy, Michel, Guimbaud, Rosine, Buecher, Bruno, Bignon, Yves-Jean, Caron, Olivier, Colas, Chrystelle, Noguès, Catherine, Lejeune-Dumoulin, Sophie, Olivier-Faivre, Laurence, Polycarpe-Osaer, Florence, Nguyen, Tan Dat, Desseigne, Françoise, Saurin, Jean-Christophe, Berthet, Pascaline, Leroux, Dominique, Duffour, Jacqueline, Manouvrier, Sylvie, Frébourg, Thierry, Sobol, Hagay, Lasset, Christine, Bonaïti-Pellié, Catherine, French Cancer Genetics Network, for the

“…CONTEXT Providing accurate estimates of cancer risks is a major challenge in the clinical management of Lynch syndrome. OBJECTIVE To estimate the age-specific…”
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Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes by De Talhouet, Solene, Peron, Julien, Vuilleumier, Aurelie, Friedlaender, Alex, Viassolo, Valeria, Ayme, Aurélie, Bodmer, Alexandre, Treilleux, Isabelle, Lang, Noemie, Tille, Jean- Christophe, Chappuis, Pierre O., Buisson, Adrien, Giraud, Sophie, Lasset, Christine, Bonadona, Valerie, Trédan, Olivier, Labidi-Galy, S.Intidhar

“…BRCA1/BRCA2 genes play a central role in DNA repair and their mutations increase sensitivity to DNA-damaging agents. There are conflicting data regarding the…”
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Patients’ characteristics and rate of Internet use to obtain cancer information by Mancini, Julien, Noguès, Catherine, Adenis, Claude, Berthet, Pascaline, Bonadona, Valérie, Chompret, Agnès, Coupier, Isabelle, Eisinger, François, Fricker, Jean-Pierre, Gauthier-Villars, Marion, Lasset, Christine, Lortholary, Alain, N’Guyen, Tan Dat, Vennin, Philippe, Sobol, Hagay, Stoppa-Lyonnet, Dominique, Julian-Reynier, Claire

“…The aim of this study was to present baseline data on the access to Internet by French breast cancer patients attending genetic clinics and to examine factors…”
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Molecular study of the perforin gene in familial hematological malignancies by El Abed, Rim, Bourdon, Violaine, Voskoboinik, Ilia, Omri, Halima, Youssef, Yosra Ben, Laatiri, Mohamed Adnene, Huiart, Laetitia, Eisinger, François, Rabayrol, Laetitia, Frenay, Marc, Gesta, Paul, Demange, Liliane, Dreyfus, Hélène, Bonadona, Valérie, Dugast, Catherine, Zattara, Hélène, Faivre, Laurence, Zaier, Monia, Jemni, Saloua Yacoub, Noguchi, Testsuro, Sobol, Hagay, Soua, Zohra

“…Perforin gene (PRF1) mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH) and in…”
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Acetyl-CoA carboxylase α gene and breast cancer susceptibility by Sinilnikova, Olga M., Ginolhac, Sophie M., Magnard, Clémence, Léoné, Mélanie, Anczukow, Olga, Hughes, David, Moreau, Karen, Thompson, Deborah, Coutanson, Christine, Hall, Janet, Romestaing, Pascale, Gérard, Jean-Pierre, Bonadona, Valérie, Lasset, Christine, Goldgar, David E., Joulin, Virginie, Venezia, Nicole Dalla, Lenoir, Gilbert M.

“…The identification of an interaction between BRCA1 and acetyl-CoA carboxylase α (ACCα), a key enzyme in lipid synthesis, led us to investigate the role of ACCα…”
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Anti-müllerian hormone levels and antral follicle count in women with a BRCA1 or BRCA2 germline pathogenic variant: A retrospective cohort study by Denis-Laroque, Laurie, Drouet, Youenn, Plotton, Ingrid, Chopin, Nicolas, Bonadona, Valérie, Lornage, Jacqueline, Salle, Bruno, Lasset, Christine, Rousset-Jablonski, Christine

“…Some studies suggested a decreased ovarian reserve among BRCA1/2 pathogenic variant carriers, with conflicting results. We conducted a retrospective…”
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First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants by Coudert, Marie, Drouet, Youenn, Delhomelle, Hélène, Svrcek, Magali, Benusiglio, Patrick R, Coulet, Florence, Clark, Dana Farengo, Katona, Bryson W, van Hest, Liselotte P, van der Kolk, Lizet E, Cats, Annemieke, van Dieren, Jolanda M, Nehoray, Bita, Slavin, Thomas, Spier, Isabel, Hüneburg, Robert, Lobo, Silvana, Oliveira, Carla, Boussemart, Lise, Masson, Laure, Chiesa, Jean, Schwartz, Mathias, Buecher, Bruno, Golmard, Lisa, Bouvier, Anne-Marie, Bonadona, Valérie, Stoppa-Lyonnet, Dominique, Lasset, Christine, Colas, Chrystelle

“…Pathogenic variants (PV) of are found in families fulfilling criteria for hereditary diffuse gastric cancer (HDGC) but no risk estimates were available until…”
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Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors by Thomson, Grégory, Filser, Mathilde, Guerrini-Rousseau, Léa, Tauziede-Espariat, Arnault, Bourneix, Christine, Gauthier-Villars, Marion, Simaga, Fatoumata, Beccaria, Kévin, Faure-Conter, Cécile, Maureille, Aurélien, Zattara-Cannoni, Hélène, Andre, Nicolas, Entz-Werle, Natacha, Brugieres, Laurence, Mansuy, Ludovic, Denizeau, Philippe, Julia, Sophie, Ingster, Olivier, Lejeune, Sophie, Brahimi, Afane, Coupier, Isabelle, Bonadona, Valérie, Delattre, Olivier, Masliah-Planchon, Julien, Bourdeaut, Franck

“…Abstract Background Rhabdoid tumors (RT) are aggressive, rare tumors predominantly affecting young children, characterized by biallelic SMARCB1 gene…”
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Short-term risk of colorectal cancer in individuals with lynch syndrome: a meta-analysis by Jenkins, Mark A, Dowty, James G, Ait Ouakrim, Driss, Mathews, John D, Hopper, John L, Drouet, Youenn, Lasset, Christine, Bonadona, Valérie, Win, Aung Ko

“…For carriers of germline mutations in DNA mismatch repair genes, the most relevant statistic for cancer prevention is colorectal cancer (Lynch syndrome) risk,…”
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MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa) by Colas, Chrystelle, Bonadona, Valérie, Baert-Desurmont, Stéphanie, Bonnet, Delphine, Coulet, Florence, Dhooge, Marion, Saurin, Jean-Christophe, Remenieras, Audrey, Bignon, Yves-Jean, Caron, Olivier, De Pauw, Antoine, Buisine, Marie-Pierre, Buecher, Bruno

“…MUTYH-associated polyposis (MAP) was first described in 2002. It is an autosomal recessive condition associated with germline pathogenic variants of both MUTYH…”
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The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition by Moretta, Jessica, Berthet, Pascaline, Bonadona, Valérie, Caron, Olivier, Cohen-Haguenauer, Odile, Colas, Chrystelle, Corsini, Carole, Cusin, Véronica, De Pauw, Antoine, Delnatte, Capucine, Dussart, Sophie, Jamain, Christophe, Longy, Michel, Luporsi, Elisabeth, Maugard, Christine, Nguyen, Tan Dat, Pujol, Pascal, Vaur, Dominique, Andrieu, Nadine, Lasset, Christine, Noguès, Catherine

“…Next generation sequencing allows the simultaneous analysis of large panel of genes for families or individuals with a strong suspicion of hereditary breast…”
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Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers by Lecarpentier, Julie, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Buecher, Bruno, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Bonadona, Valérie, Fricker, Jean-Pierre, Berthet, Pascaline, Caron, Olivier, Coupier, Isabelle, Pujol, Pascal, Faivre, Laurence, Gesta, Paul, Eisinger, François, Mari, Véronique, Gladieff, Laurence, Lortholary, Alain, Luporsi, Elisabeth, Leroux, Dominique, Venat-Bouvet, Laurence, Maugard, Christine M, Colas, Chrystelle, Tinat, Julie, Lasset, Christine, Andrieu, Nadine

“…Mutations in BRCA1/2 confer a high risk of breast cancer, but literature values of this risk vary. A genotype-phenotype correlation has been found in both…”
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National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract by Dhooge, Marion, Baert-Desurmont, Stéphanie, Corsini, Carole, Caron, Olivier, Andrieu, Nadine, Berthet, Pascaline, Bonadona, Valérie, Cohen-Haguenauer, Odile, De Pauw, Antoine, Delnatte, Capucine, Dussart, Sophie, Lasset, Christine, Leroux, Dominique, Maugard, Christine, Moretta-Serra, Jessica, Popovici, Cornel, Buecher, Bruno, Colas, Chrystelle, Noguès, Catherine

“…In case of suspected hereditary predisposition to digestive cancers, next-generation sequencing can analyze simultaneously several genes associated with an…”
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Mutiple DICER1‐related lesions associated with a germline deep intronic mutation by Verrier, Florian, Dubois d'Enghien, Catherine, Gauthier‐Villars, Marion, Bonadona, Valérie, Faure‐Conter, Cécile, Dijoud, Frédérique, Stoppa‐Lyonnet, Dominique, Houdayer, Claude, Golmard, Lisa

“…Germline DICER1 pathogenic variants predispose to numerous benign and malignant tumors. In this report, we describe DICER1 gene analysis in an adolescent…”
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Publisher Correction: Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes by De Talhouet, Solene, Peron, Julien, Vuilleumier, Aurelie, Friedlaender, Alex, Viassolo, Valeria, Ayme, Aurélie, Bodmer, Alexandre, Treilleux, Isabelle, Lang, Noemie, Tille, Jean-Christophe, Chappuis, Pierre O., Buisson, Adrien, Giraud, Sophie, Lasset, Christine, Bonadona, Valerie, Trédan, Olivier, Labidi-Galy, S. Intidhar

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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