Search Results - "SEVENET, N"

Dramatic response to PARP inhibition in a PALB2-mutated breast cancer: moving beyond BRCA by Grellety, T., Peyraud, F., Sevenet, N., Tredan, O., Dohollou, N., Barouk-Simonet, E., Kind, M., Longy, M., Blay, J.-Y., Italiano, A.

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Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition by Macquere, P, Orazio, S, Bonnet, F, Jones, N, Bubien, V, Chiron, J, Lafon, D, Barouk-Simonet, E, Tinat, J, Venat-Bouvet, L, Gesta, P, Longy, M, Sevenet, N

“…Pathogenic Variants (PV) in major cancer predisposition genes are only identified in approximately 10% of patients with Hereditary Breast and Ovarian Cancer…”
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Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same by Huq, A. J., Walsh, M., Rajagopalan, B., Finlay, M., Trainer, A. H., Bonnet, F., Sevenet, N., Winship, I. M.

“…Many cancer predisposition syndromes are preceded or accompanied by a range of typical skin signs. Gorlin syndrome is a rare multisystem inherited disorder…”
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Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations by SEVENET, N, LELLOUCH-TUBIANA, A, SCHOFIELD, D, HOANG-XUAN, K, GESSLER, M, BIRNBAUM, D, JEANPIERRE, C, JOUVET, A, DELATTRE, O

“…The hSNF5/INI1 gene which encodes a member of the SWI/SNF chromatin ATP-dependent remodeling complex, is a new tumor suppressor gene localized on chromosome…”
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Regulation of bone resorption and osteoclast survival by nitric oxide: Possible involvement of NMDA-receptor by Mentaverri, R., Kamel, S., Wattel, A., Prouillet, C., Sevenet, N., Petit, J. P., Tordjmann, T., Brazier, M.

“…Nitric oxide has been shown to play an important role in regulation of bone resorption. However, the role of endogenous nitric oxide on osteoclast activity…”
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Nævomatose basocellulaire diffuse du tronc chez une enfant de 10 ans traitée par Vismodégib by Salhi, A., Messaoudi, S., Cheddani, N., Oughanem, S., Cavelier-Balloy, B., Boukendjakdji, A., Leclerc-Mercier, S., Sevenet, N., Bourrat, E., Bessis, D., Djéridane, A., Hammoud, H., Sévenet, N., Bensalah, K., Guedouar, A., Benkaidali, I.

“…La nævomatose basocellulaire ou syndrome de Gorlin (SG) (OMIM 109400) est une maladie génétique multisystémique, due principalement à une mutation du gène…”
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DNA microarrays in clinical practice: past, present, and future by SEVENET, N, CUSSENOT, O

“…Gene expression is a central concept in molecular biology and forms part of our knowledge of the role of genes in human diseases. Genome-wide monitoring of…”
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Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer by Delattre, Olivier, Versteege, Isabella, Sévenet, Nicolas, Lange, Julian, Rousseau-Merck, Marie-Françoise, Ambros, Peter, Handgretinger, Rupert, Aurias, Alain

“…Malignant rhabdoid tumours (MRTs) are extremely aggressive cancers of early childhood. They can occur in various locations, mainly the kidney, brain and soft…”
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Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers by Sévenet, Nicolas, Sheridan, Eammon, Amram, Daniel, Schneider, Pascale, Handgretinger, Rupert, Delattre, Olivier

“…Biallelic, truncating mutations of the hSNF5/INI1 gene have recently been documented in malignant rhabdoid tumor (MRT), one of the most aggressive human…”
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High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome by Bubien, Virginie, Bonnet, Françoise, Brouste, Veronique, Hoppe, Stéphanie, Barouk-Simonet, Emmanuelle, David, Albert, Edery, Patrick, Bottani, Armand, Layet, Valérie, Caron, Olivier, Gilbert-Dussardier, Brigitte, Delnatte, Capucine, Dugast, Catherine, Fricker, Jean-Pierre, Bonneau, Dominique, Sevenet, Nicolas, Longy, Michel, Caux, Frédéric

“…PTEN hamartoma tumour syndrome (PHTS) encompasses several clinical syndromes with germline mutations in the PTEN tumour suppressor gene, including Cowden…”
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INI1 mutations in meningiomas at a potential hotspot in exon 9 by SCHMITZ, U, MUELLER, W, WEBER, M, SEVENET, N, DELATTRE, O, VON DEIMLING, A

“…Rhabdoid tumours have been shown to carry somatic mutations in the INI1 (SMARCB1/hSNF5) gene. A considerable fraction of these tumours exhibit allelic losses…”
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PTEN Immunohistochemical detection in breast cancer by Macqroqan, G, Bonnet, F, de Mascarel, I, Sevenet, N, Sierankowski, G, Brouste, V, Debled, M, Bonnefoi, H, Mauriac, L, Longy, M

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Abstract P5-09-07: Risk reducing strategy in germline BRCA mutated patients with locally advanced breast cancer. Establishing mastectomy as a preventing procedure of local recurrence by Tunon de Lara, C, Leroux, J, Bonnet, F, Debled, M, Barrouk-Simonet, E, Quenel-Tueux, N, Lagarde, P, Chassaigne, F, Esnaud, T, Fournier, M, Bubien, V, Breton-Callu, C, Charitansky, H, Petit, A, Mathoulin-Pelissier, S, Macgrogan, G, Longy, M, Sevenet, N

“…Introduction Neoadjuvant chemotherapy (NAC) is proposed for locally advanced breast cancer (LABC) to increase the breast conservative treatment (BCT). In…”
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Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same: Fam Cancer by Huq, A. J., Walsh, M., Rajagopalan, B., Finlay, M., Trainer, A. H., Bonnet, Fabrice, Sevenet, N., Winship, I. M.

“…Many cancer predisposition syndromes are preceded or accompanied by a range of typical skin signs. Gorlin syndrome is a rare multisystem inherited disorder…”
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Abstract P5-16-23: Rapid germline BRCA screening for locally advanced breast cancer changes surgical procedure after neoadjuvant chemotherapy by Tunon de Lara, C, Bonnet, F, Debled, M, Lafon, D, Breton-Callu, C, Rarouk-Simonet, E, Fournier, M, Petit, A, Bubien, V, Quenel-Tueux, N, Lagarde, P, Longy, M, Macgrogan, G, Sevenet, N

“…Introduction Neoadjuvant chemotherapy (NAC) is proposed in case of locally advanced breast cancer (LABC) to improve breast conservative treatment (BCT). In the…”
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BRCA1&2 tumoral and germline status for ovarian cancer patients in first line setting within the PAOLA-01 trial by Callens, C., Vaur, D., Soubeyran, I., Rouleau, E., Just, P-A., Guillerm, E., Golmard, L., Goardon, N., Sevenet, N., Cabaret, O., Harter, P., Gonzalez Martin, A., Fujiwara, K., Pignata, S., Colombo, N., Marth, C., Vergote, I., Mäenpää, J., Pujade-Lauraine, E., Ray-Coquard, I.

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Abstract P4-04-04: Targeted resequencing of germline PTEN-negative patients with Cowden disease reveals alternate mechanism of molecular alteration by Sevenet, N, Gourdon, S, Lafon, D, Dupiot-Chiron, J, Geneste, G, Jones, N, Bonnet, F, Longy, M

“…Introduction Cowden disease belongs to the PTEN hamartoma tumor syndrome (PHTS) group, defined by germline PTEN heterozygous inactivation. Describing the PTEN…”
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Validation of a yeast functional assay for p53 mutations using clonal sequencing by Iggo, Richard, Rudewicz, Justine, Monceau, Elodie, Sevenet, Nicolas, Bergh, Jonas, Sjoblom, Tobias, Bonnefoi, Hervé

“…We have previously tested biopsies from 1469 breast tumours with a p53 functional assay in the context of a prospective clinical trial (EORTC 10994/BIG 1–00)…”
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Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: Pathologic and molecular diagnosis by FERNANDEZ, C, BOUVIER, C, SEVENET, N, LIPRANDI, A, COZE, C, LENA, G, FIGARELLA-BRANGER, D

“…Malignant rhabdoid tumors are highly aggressive childhood tumors. Recently, all of the malignant rhabdoid tumors, whatever their location, have been related to…”
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Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations by Banneau, Guillaume, Guedj, Mickaël, MacGrogan, Gaëtan, de Mascarel, Isabelle, Velasco, Valerie, Schiappa, Renaud, Bonadona, Valerie, David, Albert, Dugast, Catherine, Gilbert-Dussardier, Brigitte, Ingster, Olivier, Vabres, Pierre, Caux, Frederic, de Reynies, Aurelien, Iggo, Richard, Sevenet, Nicolas, Bonnet, Françoise, Longy, Michel

“…Breast carcinoma is the main malignant tumor occurring in patients with Cowden disease, a cancer-prone syndrome caused by germline mutation of the tumor…”
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