Search Results - "Briaux, A."

Combination of PI3K and MEK inhibitors yields durable remission in PDX models of PIK3CA-mutated metaplastic breast cancers by Coussy, F, El Botty, R, Lavigne, M, Gu, C, Fuhrmann, L, Briaux, A, de Koning, L, Dahmani, A, Montaudon, E, Morisset, L, Huguet, L, Sourd, L, Painsec, P, Chateau-Joubert, S, Larcher, T, Vacher, S, Melaabi, S, Salomon, A Vincent, Marangoni, E, Bieche, I

“…Metaplastic breast cancer (MBC) is a rare form of breast cancer characterized by an aggressive clinical presentation, with a poor response to standard…”
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ATM has a major role in the double-strand break repair pathway dysregulation in sporadic breast carcinomas and is an independent prognostic marker at both mRNA and protein levels by Rondeau, S, Vacher, S, De Koning, L, Briaux, A, Schnitzler, A, Chemlali, W, Callens, C, Lidereau, R, Bièche, I

“…Background: Ataxia telangiectasia mutated (ATM) is a kinase that has a central role in the maintenance of genomic integrity by activating cell cycle…”
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Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations by Golmard, L, Delnatte, C, Laugé, A, Moncoutier, V, Lefol, C, Abidallah, K, Tenreiro, H, Copigny, F, Giraudeau, M, Guy, C, Barbaroux, C, Amorim, G, Briaux, A, Guibert, V, Tarabeux, J, Caputo, S, Collet, A, Gesta, P, Ingster, O, Stern, M-H, Rouleau, E, de Pauw, A, Gauthier-Villars, M, Buecher, B, Bézieau, S, Stoppa-Lyonnet, D, Houdayer, C

“…BRCA1 and BRCA2 are the two major genes predisposing to breast and ovarian cancer. Whereas high de novo mutation rates have been demonstrated for several…”
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Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition by dos Santos, E. Santana, Caputo, S. M., Castera, L., Gendrot, M., Briaux, A., Breault, M., Krieger, S., Rogan, P. K., Mucaki, E. J., Burke, L. J., Bièche, I., Houdayer, C., Vaur, D., Stoppa-Lyonnet, D., Brown, M. A., Lallemand, F., Rouleau, E.

“…Purpose The molecular mechanism of breast and/or ovarian cancer susceptibility remains unclear in the majority of patients. While germline mutations in the…”
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233 Contribution of the loss of heterozygosity in the classification of BRCA1 variants by Santana Dos Santos, E, Caputo, S, Briaux, A, Southey, M, Spurdle, A, Vincent-Salomon, A, Meseure, D, Stoppa-Lyonnet, D, Houdayer, C, Rouleau, E

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Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition by Rouleau, E., Jesson, B., Briaux, A., Nogues, C., Chabaud, V., Demange, L., Sokolowska, J., Coulet, F., Barouk-Simonet, E., Bignon, Y. J., Bonnet, F., Bourdon, V., Bronner, M., Caputo, S., Castera, L., Delnatte, C., Delvincourt, C., Fournier, J., Hardouin, A., Muller, D., Peyrat, J. P., Toulas, C., Uhrhammer, N., Vidal, V., Stoppa-Lyonnet, D., Bieche, I., Lidereau, R.

“…Hereditary breast cancers account for up to 5–10 % of breast cancers and a majority are related to the BRCA1 and BRCA2 genes. However, many families with…”
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First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome by Rouleau, E, Zattara, H, Lefol, C, Noguchi, T, Briaux, A, Buecher, B, Bourdon, V, Sobol, H, Lidereau, R, Olschwang, S

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115 A Diagnostic Genetic Test for the Physical Mapping of Germline Rearrangements in the Susceptibility Breast Cancer Genes BRCA1 and BRCA2 by Ceppi, M, Cheeseman, K, Rouleau, E, Thomas, A, Briaux, A, Lefol, C, Walrafen, P, Bensimon, A, Conseiller, E, Lidereau, R

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BRCAness, SLFN11, and RB1 loss predict response to topoisomerase I inhibitors in triple-negative breast cancers by Coussy, Florence, El-Botty, Rania, Château-Joubert, Sophie, Dahmani, Ahmed, Montaudon, Elodie, Leboucher, Sophie, Morisset, Ludivine, Painsec, Pierre, Sourd, Laura, Huguet, Léa, Nemati, Fariba, Servely, Jean-Luc, Larcher, Thibaut, Vacher, Sophie, Briaux, Adrien, Reyes, Cécile, La Rosa, Philippe, Lucotte, Georges, Popova, Tatiana, Foidart, Pierre, Sounni, Nor Eddine, Noel, Agnès, Decaudin, Didier, Fuhrmann, Laetitia, Salomon, Anne, Reyal, Fabien, Mueller, Christopher, Ter Brugge, Petra, Jonkers, Jos, Poupon, Marie-France, Stern, Marc-Henri, Bièche, Ivan, Pommier, Yves, Marangoni, Elisabetta

“…Topoisomerase I (TOP1) inhibitors trap TOP1 cleavage complexes resulting in DNA double-strand breaks (DSBs) during replication, which are repaired by…”
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Exome sequencing reveals aberrant signalling pathways as hallmark of treatment-naive anal squamous cell carcinoma by Cacheux, Wulfran, Dangles-Marie, Virginie, Rouleau, Etienne, Lazartigues, Julien, Girard, Elodie, Briaux, Adrien, Mariani, Pascale, Richon, Sophie, Vacher, Sophie, Buecher, Bruno, Richard-Molard, Marion, Jeannot, Emmanuelle, Servant, Nicolas, Farkhondeh, Fereshteh, Mariani, Odette, Rio-Frio, Thomas, Roman-Roman, Sergio, Mitry, Emmanuel, Bieche, Ivan, Lièvre, Astrid

“…Anal squamous cell carcinomas (ASCC) are rare tumours in humans. The etiological role of HPV infection is now well established but little is known about the…”
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38MO Validation study of the ShallowHRDv2 assay for homologous recombination deficiency (HRD) detection in high-grade ovarian carcinomas (HGOC) in the first-line setting, from the phase III PAOLA-1/ENGOT-ov25 trial by Callens, C., Rodrigues, M.J., Briaux, A., Browaeys, E., Eeckhoutte, A., Pujade-Lauraine, E., Renault, V., Stoppa-Lyonnet, D., Bieche, I., Bataillon, G., Heitz, F., Chiara-Cecere, S., Rubio Perez, M.J., Berger, R., Jakobi Nøttrup, T., Colombo, N., Vergote, I.B., Ray-Coquard, I.L., Stern, M-H., Popova, T.

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Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP by Lagarde, Arnaud, Rouleau, Etienne, Ferrari, Anthony, Noguchi, Tetsuro, Qiu, Jinghua, Briaux, Adrien, Bourdon, Violaine, Rémy, Virginie, Gaildrat, Pascaline, Adélaïde, José, Birnbaum, Daniel, Lidereau, Rosette, Sobol, Hagay, Olschwang, Sylviane

“…Heterozygous APC germline alteration is responsible for familial adenomatous polyposis, a colon cancer predisposition with almost complete penetrance. Point…”
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P2-13-10: Detection, Visualization and High Resolution Physical Mapping of Large Rearrangements by Molecular Combing in the Hereditary Breast Cancer Genes BRCA1 and BRCA2 by Ceppi, M, Roleau, E, Cheeseman, K, Thomas, A, Briaux, A, Lefol, C, Walrafen, P, Bensimon, A, Lidereau, R, Conseiller, E

“…Abstract The BRCA1 and BRCA2 genes are involved, with high penetrance, in breast and ovarian cancer susceptibility. About 2% to 4% of breast cancer patients…”
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