Real-World Use of Highly Sensitive Liquid Biopsy Monitoring in Metastatic Breast Cancer Patients Treated with Endocrine Agents after Exposure to Aromatase Inhibitors

Autor: Jesús Fuentes-Antrás, Ana Martínez-Rodríguez, Kissy Guevara-Hoyer, Igor López-Cade, Víctor Lorca, Alejandro Pascual, Alicia de Luna, Carmen Ramírez-Ruda, Jennifer Swindell, Paloma Flores, Ana Lluch, David W. Cescon, Pedro Pérez-Segura, Alberto Ocaña, Frederick Jones, Fernando Moreno, Vanesa García-Barberán, José Ángel García-Sáenz

Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 14, p 11419 (2023)

Endocrine-resistant, hormone receptor-positive, and HER2-negative (HR+/HER2-) metastatic breast cancer (mBC) is largely governed by acquired mutations in the estrogen receptor, which promote ligand-independent activation, and by truncal alterations i

Externí odkaz: https://doaj.org/article/ad6deb7e9e48410696732803de1a58c1

Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.

Autor: Víctor Lorca, Daniel Rueda, Lorena Martín-Morales, Carmen Poves, María Jesús Fernández-Aceñero, Clara Ruiz-Ponte, Patricia Llovet, David Marrupe, Vanesa García-Barberán, Beatriz García-Paredes, Pedro Pérez-Segura, Miguel de la Hoya, Eduardo Díaz-Rubio, Trinidad Caldés, Pilar Garre

Publikováno v: PLoS ONE, Vol 12, Iss 11, p e0187312 (2017)

The involvement of GALNT12 in colorectal carcinogenesis has been demonstrated but it is not clear to what extent it is implicated in familial CRC susceptibility. Partially inactivating variant, NM_024642.4:c.907G>A, p.(D303N), has been previously det

Externí odkaz: https://doaj.org/article/fd09141029544588ac11fc1e88cef1b0

BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X

Autor: Patricia Llovet, Vanesa García-Barberán, Víctor Lorca, Maria Luisa Gonzalez-Morales, Marta Cazorla, Lorena Martín-Morales, Clara Esteban-Jurado, Pilar Garre, Inmaculada Bando, Trinidad Caldés, Sergi Castellví-Bel, Miguel de la Hoya

Publikováno v: Cancer Prevention Research. 14:185-194

Familial colorectal cancer Type X (FCCTX) comprises a heterogeneous group of families with an increased risk of developing colorectal cancer and other related tumors, but with mismatch repair–proficient, microsatellite-stable (MSS) tumors. Unfortun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0c4221f67cf3f0a4fb45a48c98749955
https://doi.org/10.1158/1940-6207.capr-20-0316

Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

Autor: Henriette Roed Nielsen, Judith Balmaña, Anne-Marie Gerdes, Ellen Honisch, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Douglas F. Easton, Linda Steele, Ava Kwong, Sung Won Kim, Bjarni A. Agnarsson, Piera Rizzolo, Angela R. Solano, Mads Thomassen, Johannes Lemke, Grazia Artioli, Heli Nevanlinna, Johanna I. Kiiski, Frans B. L. Hogervorst, Jong Won Lee, Diana Eccles, Mark H. Greene, Marc Tischkowitz, David E. Goldgar, Angela R. Bradbury, Javier Benitez, Marie Navratilova, Dominique Stoppa-Lyonnet, Arjen R. Mensenkamp, Alfons Meindl, Zisun Kim, Nadine Tung, Agnes Jager, Matthew L. Freedman, Ana Osorio, Norbert Arnold, Doris Steinemann, Inge Søkilde Pedersen, Patricia Llovet, Rob B. van der Luijt, Vivek L Patel, Munaza Ahmed, Lidia Moserle, Irene Konstantopoulou, Jackie Cook, Jacques Simard, Joan Brunet, Johanna Rantala, Kai-ren Ong, Carole Brewer, Joe Dennis, Sook-Yee Yoon, Hanne Meijers-Heijboer, Roberta Villa, Katie Snape, Louise Izatt, Ana Peixoto, Susan M. Domchek, Nina Ditsch, D. Gareth Evans, Tara M. Friebel, Sue K. Park, Katherine L. Nathanson, Lenka Foretova, Miguel Angel Pujana, Edith Olah, Hélène Schuster, Raymonda Varon-Mateeva, Silvia Tognazzo, Payal D. Shah, Oskar T. Johannsson, Hans Ehrencrona, Paul Gesta, Ian G. Campbell, Drakoulis Yannoukakos, Mirjam Larsen, Anthony V. D'Amico, Liene Nikitina-Zake, Davide Bondavalli, Valérie Bonadona, Paul A. James, Alan Donaldson, Antonis C. Antoniou, Bernd Auber, Andrew K. Godwin, Denise Molina Gomes, Jihyoun Lee, Laurence Faivre, Almuth Caliebe, Pilar Garre, Siddhartha Yadav, Julika Borde, Pedro Pérez-Segura, Birgitte Bertelsen, Paolo Peterlongo, Michael T. Parsons, John L. Hopper, Bruno Buecher, Goska Leslie, Shan Wang-Gohrke, Amanda B. Spurdle, T.M. Mooij, Juliane Ramser, kConFab Investigators, Lídia Feliubadaló, Susanne E. Boonen, Bernard Peissel, Anna von Wachenfeldt, Timothy R. Rebbeck, Christi J. van Asperen, Víctor Lorca, Estela Carrasco, Elisa Alducci, Ulrike Faust, Karin Kast, Gord Glendon, Saundra S. Buys, Fergus J. Couch, Mariarosaria Calvello, Istvan Bodrogi, Kathryn J. Ruddy, Philipp Wagner, Fabienne Lesueur, Evan L. Busch, Hebon Investigators, Laura Cortesi, Christian F. Singer, Ute Hamann, Giuseppe Damante, Stefania Tommasi, Esther M. John, Jacopo Azzollini, Cristina Zanzottera, Angelica M. Gutierrez-Barrera, Emmanuelle Mouret-Fourme, Claire Saule, Rosa B. Barkardottir, Kristin K. Zorn, Kerstin Rhiem, Uffe Birk Jensen, Mark Pomerantz, Yuan Chun Ding, Alison H. Trainer, Marco Montagna, Vijai Joseph, Domenico Palli, Kwang-Pil Ko, Angel M. Cronin, Susan L. Neuhausen, Dieter Niederacher, Laura Ottini, Angela Toss, Rita K. Schmutzler, Muriel Belotti, Jeffrey N. Weitzel, Caroline M. Seynaeve, Ileana Carnevali, Adalgeir Arason, Rosalind A. Eeles, Annie T W Chu, Florentia Fostira, Greet Wieme, Brita Arver, Charlotte Kvist Lautrup, Christoph Engel, Marion Gauthier-Villars, Daniel Barrowdale, Caroline Maria Rossing, Kenneth Offit, Kathleen Claes, Olufunmilayo I. Olopade, Penny Soucy, Alicia Barroso, Manuel R. Teixeira, Wendy K. Chung, Gero Kramer, Tsun Leung Chan, Agostina Stradella, Debra Frost, Noura Mebirouk, Liselotte P. van Hest, Esther Darder, Valentina Silvestri, Annabeth Høgh Petersen, Lesley McGuffog, Andrea Gehrig, Mary Porteous, Matti A. Rookus, Lizet E. van der Kolk, Siranoush Manoukian, Lone Sunde, Conxi Lázaro, Maria A. Caligo, Priyanka Sharma, Anne-Bine Skytte, Claus-Eric Ott, Christian Sutter, Paolo Radice, Veronica Medici, Georgia Chenevix-Trench, Vanesa García-Barberán, Kristiina Aittomäki, Amanda E. Toland, Anna Marie Mulligan, Véronique Mari, Bernd Dworniczak, Lynn Martin, Lara Della Puppa, Phuong L. Mai, George Fountzilas, Yen Y. Tan, Simona Agata, Torben A Kruse, Trinidad Caldés, Rosemarie Davidson, Daniel R. Barnes, Thomas Dyrso Jensen, Åke Borg, Mark E. Robson, Jennifer T. Loud, Vivian Y. Shin, Irene López-Perolio, Leigha Senter, Irene L. Andrulis, Rosa Scarpitta, Angela F. Brady, Annika Lindblom, Diana Torres, Lotte Nylandsted Krogh, Barbara Wappenschmidt, Muhammad Rashid, Jeroen Vierstraete, Mary B. Daly, Annelie Liljegren, Frederieke H. van der Baan, Eunyoung Kang, Alessandra Viel, Santiago Cabezas-Camarero, Eric Hahnen, Laura Matricardi, Marinus J. Blok, Edmond S. K. Ma, Maria Grazia Tibiletti, Catarina Santos, Julian Adlard, Soo Hwang Teo, Giuseppe Giannini, Jan Hauke, Peter J. Hulick, Miguel de la Hoya, Clare Miller, Bernardo Bonanni, Bent Ejlertsen, Lajos Géczi, Liliana Varesco, Orland Diez, N Herold, Christine Lasset, Adrià López-Fernández, Min Hyuk Lee

Publikováno v: Cancer Research, 80(3), 624-638. American Association for Cancer Research Inc.
Cancer Research, 80, 3, pp. 624-638
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Cancer Research, 80(3), 624-638. AMER ASSOC CANCER RESEARCH
Cancer Research, 80, 624-638
Cancer research, 80(3), 624-638. American Association for Cancer Research Inc.
Patel, V L, Busch, E L, Friebel, T M, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, B A, Ahmed, M, Aittomäki, K, Alducci, E, Andrulis, I L, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barnes, D R, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, M J, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, S E, Borde, J, Borg, A, Bradbury, A R, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, S S, Cabezas-Camarero, S, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Campbell, I G, Carnevali, I, Carrasco, E, Chan, T L, Chu, A T W, Chung, W K, Claes, K B M, Collaborators, G S, Collaborators, E, Cook, J, Cortesi, L, Couch, F J, Daly, M B, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Puppa, L D, Dennis, J, Díez, O, Ding, Y C, Ditsch, N, Domchek, S M, Donaldson, A, Dworniczak, B, Easton, D F, Eccles, D M, Eeles, R A, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, D G, Faivre, L, Faust, U, Feliubadaló, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberán, V, Garre, P, Gauthier-Villars, M, Géczi, L, Gehrig, A, Gerdes, A M, Gesta, P, Giannini, G, Glendon, G, Godwin, A K, Radice, P, Greene, M H, Gutierrez-Barrera, A M, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, F B L, Honisch, E, Hopper, J L, Hulick, P J, Investigators, KC F, Investigators, H, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, U B, Jensen, T D, Johannsson, O T, John, E M, Joseph, V, Kang, E, Kast, K, Kiiski, J I, Kim, S W, Kim, Z, Ko, K P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, T A, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lazaro, C, Lee, J, Lee, J W, Lee, M H, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernández, A, Lopez-Perolio, I, Lorca, V, Loud, J T, Ma, E S K, Mai, P L, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A R, Miller, C, Gomes, D M, Montagna, M, Mooij, T M, Moserle, L, Mouret-Fourme, E, Mulligan, A M, Nathanson, K L, Navratilova, M, Nevanlinna, H, Niederacher, D, Nielsen, F C C, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Ong, K R, Osorio, A, Ott, C E, Palli, D, Park, S K, Parsons, M T, Pedersen, I S, Peissel, B, Peixoto, A, Pérez-Segura, P, Peterlongo, P, Petersen, A H, Porteous, M E, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Rashid, M U, Rhiem, K, Rizzolo, P, Robson, M E, Rookus, M A, Rossing, C M, Ruddy, K J, Santos, C, Saule, C, Scarpitta, R, Schmutzler, R K, Schuster, H, Senter, L, Seynaeve, C M, Shah, P D, Sharma, P, Shin, V Y, Silvestri, V, Simard, J, Singer, C F, Skytte, A B, Snape, K, Solano, A R, Soucy, P, Southey, M C, Spurdle, A B, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Tibiletti, M G, Tischkowitz, M, Tognazzo, S, Toland, A E, Tommasi, S, Torres, D, Toss, A, Trainer, A H, Tung, N, van Asperen, C J, van der Baan, F H, van der Kolk, L E, van der Luijt, R B, van Hest, L P, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstrate, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, J N, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S Y, Zanzottera, C, Zorn, K K, D'Amico, A V, Freedman, M L, Pomerantz, M M, Chenevix-Trench, G, Antoniou, A C, Neuhausen, S L, Ottini, L, Nielsen, H R & Rebbeck, T R 2020, ' Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness ', Cancer Research, vol. 80, no. 3, pp. 624-638 . https://doi.org/10.1158/0008-5472.CAN-19-1840
Cancer Res
Cancer Research, 80(3), 624. American Association for Cancer Research Inc.

Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586e4ca6b50ef1e96acbb61e1a78bc0c
https://eprints.soton.ac.uk/438074/

Current status of the genetic susceptibility in attenuated adenomatous polyposis

Autor: Víctor Lorca, Pilar Garre

Publikováno v: World Journal of Gastrointestinal Oncology

Adenomatous polyposis (AP) is classified according to cumulative adenoma number in classical AP (CAP) and attenuated AP (AAP). Genetic susceptibility is the major risk factor in CAP due to mutations in the known high predisposition genes APC and MUTY

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::036bc31182ede159cbd5dbe4feff8472
https://pubmed.ncbi.nlm.nih.gov/31908716