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Publikováno v:
Journal of Human Genetics
Breast cancer is a heterogeneous disease that develops through a multistep process via the accumulation of genetic/epigenetic alterations in various cancer-related genes. Current treatment options for breast cancer patients include surgery, radiother
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
© The Author(s), under exclusive licence to Springer Nature B.V. 2021
Breast cancer is a heterogeneous disease, which is the most common malignancy in women. The incidence and mortality rates of breast cancer indicate that it is the leading cau
Breast cancer is a heterogeneous disease, which is the most common malignancy in women. The incidence and mortality rates of breast cancer indicate that it is the leading cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f8704585dfee30fde57fafbb3e3a01
https://hdl.handle.net/10451/47138
https://hdl.handle.net/10451/47138
Autor:
María Teresa Sánchez-Barrón, Ana I. Álvarez-Mercado, Carmen M Ruiz-Marín, Cándido Robles-Sánchez, Saturnino Reyes Lartategui, María José Sáez-Lara, María Belén Sánchez-Andujar, Mariana F. Fernández, Alejandro J. Pérez-Alonso, Ana Moreno-Delgado, Tania Gallart-Aragón, Natalia Chueca, Katia Torres-Martínez, Julio Plaza-Díaz, Federico García, Iris Reina-Pérez, Luis Fontana, Pablo Torné
Publikováno v:
Digibug. Repositorio Institucional de la Universidad de Granada
instname
BMC Cancer, Vol 19, Iss 1, Pp 1-9 (2019)
BMC Cancer
instname
BMC Cancer, Vol 19, Iss 1, Pp 1-9 (2019)
BMC Cancer
We would like to thank M Luisa Puertas-Martin and Isabel Manzano-Jimenez, nurses at the Unit of Mammary Pathology, General Surgery Service, San Cecilio University Hospital (Granada), without whose enthusiasm the enrolment of participants in Granada w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea8509963333b0ca31ea8159ad28a282
Autor:
Carmen Citterio, Jesús M. Paramio, L. Francisco Lorenzo-Martín, Pedro M. Fernández-Salguero, Romain M. Larive, Javier Robles-Valero, Javier Conde, Xosé R. Bustelo, María J. Montero, Myriam Cuadrado, Mauricio Menacho-Márquez, Mª Ángeles Sevilla, Isabel Fernández-Pisonero, Sonia Rodríguez-Fdez, Mercedes Dosil, Ramón García-Escudero
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Oncogene
instname
Oncogene
The bidirectional regulation of epithelial–mesenchymal transitions (EMT) is key in tumorigenesis. Rho GTPases regulate this process via canonical pathways that impinge on the stability of cell-to-cell contacts, cytoskeletal dynamics, and cell invas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::469910d984fe5688feeee1cb2c4772cc
http://hdl.handle.net/10261/204097
http://hdl.handle.net/10261/204097
Autor:
Arja Jukkola-Vuorinen, Anniina Jääskeläinen, Kirsi-Maria Haapasaari, Päivi Auvinen, Ylermi Soini, Peeter Karihtala
Publikováno v:
BMC Cancer
BMC Cancer, Vol 18, Iss 1, Pp 1-10 (2018)
BMC Cancer, Vol 18, Iss 1, Pp 1-10 (2018)
Background: The subtype of claudin-low breast cancer can be reliably determined only by gene-expression profiling. Attempts have been made to develop immunohistochemical surrogates, which nearly always focus on membranous claudin expression. Methods:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0882fc6ea4b5d717997d116945eea4b4
http://urn.fi/urn:nbn:fi-fe201804196713
http://urn.fi/urn:nbn:fi-fe201804196713
Autor:
Michailidou, K., Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R.L., Schmidt, M.K., Chang-Claude, J., Bojesen, S.E., Bolla, M.K., Wang, Q., Dicks, E., Lee, A., Turnbull, C., Rahman, N., Fletcher, O., Peto, J., Gibson, L., Silva, I.D., Nevanlinna, H., Muranen, T.A., Aittomaki, K., Blomqvist, C., Czene, K., Irwanto, A., Liu, J.J., Waisfisz, Q., Meijers-Heijboer, H., Adank, M., Luijt, R.B. van der, Hein, R., Dahmen, N., Beckman, L., Meindl, A., Schmutzler, R.K., Muller-Myhsok, B., Lichtner, P., Hopper, J.L., Southey, M.C., Makalic, E., Schmidt, D.F., Uitterlinden, A.G., Hofman, A., Hunter, D.J., Chanock, S.J., Vincent, D., Bacot, F., Tessier, D.C., Canisius, S., Wessels, L.F.A., Haiman, C.A., Shah, M., Luben, R., Brown, J., Luccarini, C., Schoof, N., Humphreys, K., Li, J.M., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Couch, F.J., Wang, X.S., Vachon, C., Stevens, K.N., Lambrechts, D., Moisse, M., Paridaens, R., Christiaens, M.R., Rudolph, A., Nickels, S., Flesch-Janys, D., Johnson, N., Aitken, Z., Aaltonen, K., Heikkinen, T., Broeks, A., Van't Veer, L.J., Schoot, C.E. van der, Guenel, P., Truong, T., Laurent-Puig, P., Menegaux, F., Marme, F., Schneeweiss, A., Sohn, C., Burwinke, B., Zamora, M.P., Perez, J.I.A., Pita, G., Alonso, M.R., Cox, A., Brock, I.W., Cross, S.S., Reed, M.W.R., Sawyer, E.J., Tomlinson, I., Kerin, M.J., Miller, N., Henderson, B.E., Schumacher, F., Marchand, L. le, Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Lindblom, A., Margolin, S., Hooning, M.J., Hollestelle, A., Ouweland, A.M.W. van den, Jager, A., Bui, Q.M., Stone, J., Dite, G.S., Apicella, C., Tsimiklis, H., Giles, G.G., Severi, G., Baglietto, L., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Swerdlown, A., Ashworth, A., Orr, N., Jones, M., Figueroa, J., Lissowska, J., Brinton, L., Goldberg, M.S., Labreche, F., Dumont, M., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Brauch, H., Hamann, U., Bruning, T., Radice, P., Peterlongo, P., Manouldan, S., Bonanni, B., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Bogdanova, N.V., Antonenkova, N.N., Dork, T., Kristensen, V.N., Anton-Culver, H., Slager, S., Toland, A.E., Edge, S., Fostira, F., Kang, D., Yoo, K.Y., Noh, D.Y., Matsuo, K., Ito, H., Iwata, H., Sueta, A., Wu, A.H., Tseng, C.C., Berg, D. van den, Stram, D.O., Shu, X.O., Lu, W., Gao, Y.T., Cai, H., Teo, S.H., Yip, C.H., Phuah, S.Y., Cornes, B.K., Hartman, M., Miao, H., Lim, W.Y., Sng, J.H., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Shen, C.Y., Hsiung, C.N., Wu, P.E., Ding, S.L., Sangrajrang, S., Gaborieau, V., Brennan, P., Mckay, J., Blot, W.J., Signorello, L.B., Cai, Q.Y., Zheng, W., Deming-Halverson, S., Shrubsole, M., Long, J.R., Simard, J., Garcia-Closas, M., Pharoah, P.D.P., Chenevix-Trench, G., Dunning, A.M., Benitez, J., Easton, D.F., Breast Ovarian Canc Susceptibility, Hereditary Breast Ovarian Canc Res, kConFab Investigators, Australian Ovarian Can Study Grp, GENICA Gene Environm Interaction B
Publikováno v:
Nature genetics, 45(4). Nature Publishing Group
Nature Genetics; Vol 45
Nature Genetics, 45(4), 353-361
Nature Genetics, 45(4), 353-361. Nature Publishing Group
Michailidou, K, Hall, P, Gonzalez-Neira, A, Ghoussaini, M, Dennis, J, Milne, R L, Schmidt, M K, Chang-Claude, J, Bojesen, S E, Bolla, M K, Wang, Q, Dicks, E, Lee, A, Turnbull, C, Rahman, N, Fletcher, O, Peto, J, Gibson, L, Silva, I D, Nevanlinna, H, Muranen, T A, Aittomaki, K, Blomqvist, C, Czene, K, Irwanto, A, Liu, J J, Waisfisz, Q, Meijers-Heijboer, H, Adank, M, van der Luijt, R B, Hein, R, Dahmen, N, Beckman, L, Meindl, A, Schmutzler, R K, Muller-Myhsok, B, Lichtner, P, Hopper, J L, Southey, M C, Makalic, E, Schmidt, D F, Uitterlinden, A G, Hofman, A, Hunter, D J, Chanock, S J, Vincent, D, Bacot, F, Tessier, D C, Canisius, S, Wessels, L F A, Haiman, C A, Shah, M, Luben, R, Brown, J C, Luccarini, C, Schoof, N, Humphreys, K, Li, J M, Nordestgaard, B G, Nielsen, S F, Flyger, H, Couch, F J, Wang, X S, Vachon, C, Stevens, K N, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, M R, Rudolph, A, Nickels, S, Flesch-Janys, D, Johnson, N, Aitken, Z, Aaltonen, K, Heikkinen, T, Broeks, A, van 't Veer, L J, van der Schoot, C E, Guenel, P, Truong, T, Laurent-Puig, P, Menegaux, F, Marme, F, Schneeweiss, A, Sohn, C, Burwinke, B, Zamora, M P, Perez, J I A, Pita, G, Alonso, M R, Cox, A, Brock, I W, Cross, S S, Reed, M W R, Sawyer, E J, Tomlinson, I, Kerin, M J, Miller, N, Benitez, J & Easton, D F 2013, ' Large-scale genotyping identifies 41 new loci associated with breast cancer risk ', Nature Genetics, vol. 45, no. 4, pp. 353-361 . https://doi.org/10.1038/ng.2563
Nature Genetics
Nature Genetics; Vol 45
Nature Genetics, 45(4), 353-361
Nature Genetics, 45(4), 353-361. Nature Publishing Group
Michailidou, K, Hall, P, Gonzalez-Neira, A, Ghoussaini, M, Dennis, J, Milne, R L, Schmidt, M K, Chang-Claude, J, Bojesen, S E, Bolla, M K, Wang, Q, Dicks, E, Lee, A, Turnbull, C, Rahman, N, Fletcher, O, Peto, J, Gibson, L, Silva, I D, Nevanlinna, H, Muranen, T A, Aittomaki, K, Blomqvist, C, Czene, K, Irwanto, A, Liu, J J, Waisfisz, Q, Meijers-Heijboer, H, Adank, M, van der Luijt, R B, Hein, R, Dahmen, N, Beckman, L, Meindl, A, Schmutzler, R K, Muller-Myhsok, B, Lichtner, P, Hopper, J L, Southey, M C, Makalic, E, Schmidt, D F, Uitterlinden, A G, Hofman, A, Hunter, D J, Chanock, S J, Vincent, D, Bacot, F, Tessier, D C, Canisius, S, Wessels, L F A, Haiman, C A, Shah, M, Luben, R, Brown, J C, Luccarini, C, Schoof, N, Humphreys, K, Li, J M, Nordestgaard, B G, Nielsen, S F, Flyger, H, Couch, F J, Wang, X S, Vachon, C, Stevens, K N, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, M R, Rudolph, A, Nickels, S, Flesch-Janys, D, Johnson, N, Aitken, Z, Aaltonen, K, Heikkinen, T, Broeks, A, van 't Veer, L J, van der Schoot, C E, Guenel, P, Truong, T, Laurent-Puig, P, Menegaux, F, Marme, F, Schneeweiss, A, Sohn, C, Burwinke, B, Zamora, M P, Perez, J I A, Pita, G, Alonso, M R, Cox, A, Brock, I W, Cross, S S, Reed, M W R, Sawyer, E J, Tomlinson, I, Kerin, M J, Miller, N, Benitez, J & Easton, D F 2013, ' Large-scale genotyping identifies 41 new loci associated with breast cancer risk ', Nature Genetics, vol. 45, no. 4, pp. 353-361 . https://doi.org/10.1038/ng.2563
Nature Genetics
Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67ce99d85e1e04916e33425529f5e91
http://hdl.handle.net/10379/12885
http://hdl.handle.net/10379/12885
Autor:
Fabio Corradini, Francesco Piva, Riccardo Cellerino, C. Brugiati, R. Bracci, Eva Galizia, Italo Bearzi, Alessandra Viel, L. Belvederesi, Diana Baralle, Francesca Bianchi, Michela Raponi, Cristian Loretelli
Publikováno v:
Familial Cancer
Single base substitutions can lead to missense mutations, silent mutations or intronic mutations, whose significance is uncertain. Aberrant splicing can occur due to mutations that disrupt or create canonical splice sites or splicing regulatory seque
Autor:
Jan Steffen, Michalina Dabrowska, Aneta Balabas, Magdalena Piatkowska, Dorota Nowakowska, Izabela Brozek, Anna Niwińska, Magdalena Ratajska, Jadwiga Rachtan, Janusz Limon, Anna Kluska
Publikováno v:
Familial Cancer
It is estimated that about 5–10% of ovarian and 2–5% of all breast cancer patients are carriers of a germline BRCA1 or BRCA2 gene mutation. Most families with detected BRCA1 or BRCA2 gene mutation are qualified for molecular testing on the basis
Autor:
Badan S. Sehrawat, Carol E. Cass, Sambasivarao Damaraju, John R. Mackey, Malinee Sridharan, Paula J. Robson, Sunita Ghosh, Russell Greiner
Publikováno v:
Human Genetics
Previous genome-wide association studies (GWAS) have shown several risk alleles to be associated with breast cancer. However, the variants identified so far contribute to only a small proportion of disease risk. The objective of our GWAS was to ident
Publikováno v:
Familial Cancer
Triple-negative breast cancer (TNBC) is characterised by worse clinical outcome and poor prognosis. The alterations in the oncogenes and tumor suppressor genes as well as microsatellite instability (MSI) have been associated with breast cancer develo