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

Nature

Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B.
PMID: 26633630
Nature. 2016 Mar 03;531(7592):126. doi: 10.1038/nature16158. Epub 2015 Dec 02.

No abstract available.

Cite
Bertolotto C, Lesueur F, Giuliano S, et al. Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature. 2015;531(7592):126doi: 10.1038/nature16158.
Bertolotto, C., Lesueur, F., Giuliano, S., Strub, T., de Lichy, M., Bille, K., Dessen, P., d'Hayer, B., Mohamdi, H., Remenieras, A., Maubec, E., de la Fouchardière, A., Molinié, V., Vabres, P., Dalle, S., Poulalhon, N., Martin-Denavit, T., Thomas, L., Andry-Benzaquen, P., Dupin, N., Boitier, F., Rossi, A., Perrot, J. L., Labeille, B., Robert, C., Escudier, B., Caron, O., Brugières, L., Saule, S., Gardie, B., Gad, S., Richard, S., Couturier, J., Teh, B. T., Ghiorzo, P., Pastorino, L., Puig, S., Badenas, C., Olsson, H., Ingvar, C., Rouleau, E., Lidereau, R., Bahadoran, P., Vielh, P., Corda, E., Blanché, H., Zelenika, D., Galan, P., Chaudru, V., Lenoir, G. M., Lathrop, M., Davidson, I., Avril, M. F., Demenais, F., Ballotti, R., & Bressac-de Paillerets, B. (2016). Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature, 531(7592), 126. https://doi.org/10.1038/nature16158
Bertolotto, Corine, et al. "Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma." Nature vol. 531,7592 (2016): 126. doi: https://doi.org/10.1038/nature16158
Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B. Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature. 2016 Mar 03;531(7592):126. doi: 10.1038/nature16158. Epub 2015 Dec 02. PMID: 26633630.
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Nucleic acids research

Leman R, Gaildrat P, Le Gac G, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Bressac-de Paillerets B, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C.
PMID: 31863589
Nucleic Acids Res. 2020 Feb 20;48(3):1600-1601. doi: 10.1093/nar/gkz1212.

No abstract available.

Cite
Leman R, Gaildrat P, Le Gac G, et al. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Nucleic Acids Res. 2020;48(3):1600-1601doi: 10.1093/nar/gkz1212.
Leman, R., Gaildrat, P., Le Gac, G., Ka, C., Fichou, Y., Audrezet, M. P., Caux-Moncoutier, V., Caputo, S. M., Boutry-Kryza, N., Léone, M., Mazoyer, S., Bonnet-Dorion, F., Sevenet, N., Guillaud-Bataille, M., Rouleau, E., Bressac-de Paillerets, B., Wappenschmidt, B., Rossing, M., Muller, D., Bourdon, V., Revillon, F., Parsons, M. T., Rousselin, A., Davy, G., Castelain, G., Castéra, L., Sokolowska, J., Coulet, F., Delnatte, C., Férec, C., Spurdle, A. B., Martins, A., Krieger, S., & Houdayer, C. (2020). Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Nucleic acids research, 48(3), 1600-1601. https://doi.org/10.1093/nar/gkz1212
Leman, Raphaël, et al. "Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort." Nucleic acids research vol. 48,3 (2020): 1600-1601. doi: https://doi.org/10.1093/nar/gkz1212
Leman R, Gaildrat P, Le Gac G, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Bressac-de Paillerets B, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Nucleic Acids Res. 2020 Feb 20;48(3):1600-1601. doi: 10.1093/nar/gkz1212. PMID: 31863589; PMCID: PMC7026662.
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BRCA1-p53 relationship in hereditary breast cancer.

International journal of oncology

Sobol H, Stoppalyonnet D, Bressacdepaillerets B, Peyrat J, Guinebretiere J, Jacquemier J, Eisinger F, Birnbaum D.
PMID: 21533383
Int J Oncol. 1997 Feb;10(2):349-53. doi: 10.3892/ijo.10.2.349.

BRCA1, a major gene predisposing to breast and ovarian cancers, encodes a ring finger-containing protein. Its function is still unknown. Recently, the existence of a new structural domain called BRCT was postulated. This domain has some similarity with the...

Cite
Sobol H, Stoppalyonnet D, Bressacdepaillerets B, et al. BRCA1-p53 relationship in hereditary breast cancer. Int J Oncol. 1997;10(2):349-53doi: 10.3892/ijo.10.2.349.
Sobol, H., Stoppalyonnet, D., Bressacdepaillerets, B., Peyrat, J., Guinebretiere, J., Jacquemier, J., Eisinger, F., & Birnbaum, D. (1997). BRCA1-p53 relationship in hereditary breast cancer. International journal of oncology, 10(2), 349-53. https://doi.org/10.3892/ijo.10.2.349
Sobol, H, et al. "BRCA1-p53 relationship in hereditary breast cancer." International journal of oncology vol. 10,2 (1997): 349-53. doi: https://doi.org/10.3892/ijo.10.2.349
Sobol H, Stoppalyonnet D, Bressacdepaillerets B, Peyrat J, Guinebretiere J, Jacquemier J, Eisinger F, Birnbaum D. BRCA1-p53 relationship in hereditary breast cancer. Int J Oncol. 1997 Feb;10(2):349-53. doi: 10.3892/ijo.10.2.349. PMID: 21533383.
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GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in .

Frontiers in oncology

Lesueur F, Mebirouk N, Jiao Y, Barjhoux L, Belotti M, Laurent M, Léone M, Houdayer C, Bressac-de Paillerets B, Vaur D, Sobol H, Noguès C, Longy M, Mortemousque I, Fert-Ferrer S, Mouret-Fourme E, Pujol P, Venat-Bouvet L, Bignon YJ, Leroux D, Coupier I, Berthet P, Mari V, Delnatte C, Gesta P, Collonge-Rame MA, Giraud S, Bonadona V, Baurand A, Faivre L, Buecher B, Lasset C, Gauthier-Villars M, Damiola F, Mazoyer S, Caputo SM, Andrieu N, Stoppa-Lyonnet D.
PMID: 30430080
Front Oncol. 2018 Oct 31;8:490. doi: 10.3389/fonc.2018.00490. eCollection 2018.

No abstract available.

Cite
Lesueur F, Mebirouk N, Jiao Y, et al. GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in . Front Oncol. 2018;8:490doi: 10.3389/fonc.2018.00490.
Lesueur, F., Mebirouk, N., Jiao, Y., Barjhoux, L., Belotti, M., Laurent, M., Léone, M., Houdayer, C., Bressac-de Paillerets, B., Vaur, D., Sobol, H., Noguès, C., Longy, M., Mortemousque, I., Fert-Ferrer, S., Mouret-Fourme, E., Pujol, P., Venat-Bouvet, L., Bignon, Y. J., Leroux, D., Coupier, I., Berthet, P., Mari, V., Delnatte, C., Gesta, P., Collonge-Rame, M. A., Giraud, S., Bonadona, V., Baurand, A., Faivre, L., Buecher, B., Lasset, C., Gauthier-Villars, M., Damiola, F., Mazoyer, S., Caputo, S. M., Andrieu, N., Stoppa-Lyonnet, D. (2018). GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in . Frontiers in oncology, 8490. https://doi.org/10.3389/fonc.2018.00490
Lesueur, Fabienne, et al. "GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in ." Frontiers in oncology vol. 8 (2018): 490. doi: https://doi.org/10.3389/fonc.2018.00490
Lesueur F, Mebirouk N, Jiao Y, Barjhoux L, Belotti M, Laurent M, Léone M, Houdayer C, Bressac-de Paillerets B, Vaur D, Sobol H, Noguès C, Longy M, Mortemousque I, Fert-Ferrer S, Mouret-Fourme E, Pujol P, Venat-Bouvet L, Bignon YJ, Leroux D, Coupier I, Berthet P, Mari V, Delnatte C, Gesta P, Collonge-Rame MA, Giraud S, Bonadona V, Baurand A, Faivre L, Buecher B, Lasset C, Gauthier-Villars M, Damiola F, Mazoyer S, Caputo SM, Andrieu N, Stoppa-Lyonnet D. GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in . Front Oncol. 2018 Oct 31;8:490. doi: 10.3389/fonc.2018.00490. eCollection 2018. PMID: 30430080; PMCID: PMC6220051.
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Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.

Human mutation

Sebai M, Tulasne D, Caputo SM, Verkarre V, Fernandes M, Reinhart F, Adams S, Maugard C, Caron O, Guillaud-Bataille M, Berthet P, Bignon YJ, Bressac-de Paillerets B, Burnichon N, Chiesa J, Giraud S, Lejeune S, Limacher JM, de Pauw A, Stoppa-Lyonnet D, Zattara-Cannoni H, Deveaux S, Lidereau R, Richard S, Rouleau E.
PMID: 34882875
Hum Mutat. 2021 Dec 09; doi: 10.1002/humu.24313. Epub 2021 Dec 09.

Hereditary papillary renal cell carcinoma (HPRC) is a rare inherited renal cancer syndrome characterized by bilateral and multifocal papillary type 1 renal tumors (PRCC1). Activating germline pathogenic variants of MET gene were identified in HPRC families. We reviewed the...

Cite
Sebai M, Tulasne D, Caputo SM, et al. Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I. Hum Mutat. 2021;doi: 10.1002/humu.24313.
Sebai, M., Tulasne, D., Caputo, S. M., Verkarre, V., Fernandes, M., Reinhart, F., Adams, S., Maugard, C., Caron, O., Guillaud-Bataille, M., Berthet, P., Bignon, Y. J., Bressac-de Paillerets, B., Burnichon, N., Chiesa, J., Giraud, S., Lejeune, S., Limacher, J. M., de Pauw, A., Stoppa-Lyonnet, D., Zattara-Cannoni, H., Deveaux, S., Lidereau, R., Richard, S., & Rouleau, E. (2021). Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I. Human mutation, . https://doi.org/10.1002/humu.24313
Sebai, Molka, et al. "Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I." Human mutation vol. (2021). doi: https://doi.org/10.1002/humu.24313
Sebai M, Tulasne D, Caputo SM, Verkarre V, Fernandes M, Reinhart F, Adams S, Maugard C, Caron O, Guillaud-Bataille M, Berthet P, Bignon YJ, Bressac-de Paillerets B, Burnichon N, Chiesa J, Giraud S, Lejeune S, Limacher JM, de Pauw A, Stoppa-Lyonnet D, Zattara-Cannoni H, Deveaux S, Lidereau R, Richard S, Rouleau E. Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I. Hum Mutat. 2021 Dec 09; doi: 10.1002/humu.24313. Epub 2021 Dec 09. PMID: 34882875.
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The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Cancers

Hubert JN, Suybeng V, Vallée M, Delhomme TM, Maubec E, Boland A, Bacq D, Deleuze JF, Jouenne F, Brennan P, McKay JD, Avril MF, Bressac-de Paillerets B, Chanudet E.
PMID: 34067022
Cancers (Basel). 2021 May 07;13(9). doi: 10.3390/cancers13092243.

No abstract available.

Cite
Hubert JN, Suybeng V, Vallée M, et al. The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma. Cancers (Basel). 2021;13(9)doi: 10.3390/cancers13092243.
Hubert, J. N., Suybeng, V., Vallée, M., Delhomme, T. M., Maubec, E., Boland, A., Bacq, D., Deleuze, J. F., Jouenne, F., Brennan, P., McKay, J. D., Avril, M. F., Bressac-de Paillerets, B., & Chanudet, E. (2021). The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma. Cancers, 13(9), . https://doi.org/10.3390/cancers13092243
Hubert, Jean-Noël, et al. "The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma." Cancers vol. 13,9 (2021). doi: https://doi.org/10.3390/cancers13092243
Hubert JN, Suybeng V, Vallée M, Delhomme TM, Maubec E, Boland A, Bacq D, Deleuze JF, Jouenne F, Brennan P, McKay JD, Avril MF, Bressac-de Paillerets B, Chanudet E. The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma. Cancers (Basel). 2021 May 07;13(9). doi: 10.3390/cancers13092243. PMID: 34067022; PMCID: PMC8125037.
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Showing 1 to 6 of 6 entries