Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case–control study

Autor: Omar Alejandro Zayas-Villanueva, Luis Daniel Campos-Acevedo, José de Jesús Lugo-Trampe, David Hernández-Barajas, Juan Francisco González-Guerrero, María Fernanda Noriega-Iriondo, Ilse Alejandra Ramírez-Sánchez, Laura Elia Martínez-de-Villarreal

Publikováno v: BMC Cancer, Vol 19, Iss 1, Pp 1-8 (2019)

Abstract Background Pathogenic variants (PVs) of BRCA genes entail a lifetime risk of developing breast cancer in 50–85% of carriers. Their prevalence in different populations has been previously reported. However, there is scarce information regar

Externí odkaz: https://doaj.org/article/a0ffabcfb65d4cdbb5b757dcde402f13

Deep Learning Architecture Optimization with Metaheuristic Algorithms for Predicting BRCA1/BRCA2 Pathogenicity NGS Analysis

Autor: Eric Pellegrino, Theo Brunet, Christel Pissier, Clara Camilla, Norman Abbou, Nathalie Beaufils, Isabelle Nanni-Metellus, Philippe Métellus, L’Houcine Ouafik

Publikováno v: BioMedInformatics
BioMedInformatics, 2022, 2 (2), pp.244-267. ⟨10.3390/biomedinformatics2020016⟩
BioMedInformatics; Volume 2; Issue 2; Pages: 244-267

BRCA1 and BRCA2 are genes with tumor suppressor activity, and they are involved ina considerable number of biological processes allowing the regulation of the cellreplication cycle. A mutation in one of these two genes has a significant probability o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8892fcdb02ae5995ca875aeae713cbb4
https://doi.org/10.3390/biomedinformatics2020016

Genetic Variation of The BRCA1 and BRCA2 Genes in Macedonian Patients

Autor: Plaseska-Karanfilska Dijana, Maleva I, Madjunkova S, Bozhinovski G, Smickova E, Kondov G, Spiroski Z, Arsovski A

Publikováno v: Balkan Journal of Medical Genetics, Vol 15, Iss Supplement, Pp 81-85 (2012)

The most significant and well characterized genetic risk factors for breast and/or ovarian cancer are germline mutations in the BRCA1 and BRCA2 genes. The BRCA1 and BRCA2 gene mutations strikingly increase breast cancer risk, suggesting that polymorp

Externí odkaz: https://doaj.org/article/625d29c023cb4136b2942eaf334e3762

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Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer

Autor: Caroline Seynaeve, Katja Harbst, Eric A. Ross, Nandita Mitra, Elisa Alducci, Marco Montagna, Janusz Menkiszak, Marion Gauthier-Villars, Javier Benitez, Carole Brewer, Etienne Rouleau, Inge Søkilde Pedersen, Orland Diez, Anya Kushnir, Antonis C. Antoniou, Christine Rappaport, Florentia Fostira, Maurizio Genuardi, Simona Agata, Mark H. Greene, Mary Beth Terry, Nicola Dikow, David E. Goldgar, Anna Jakubowska, Min Hyuk Lee, Sylvie Mazoyer, Diana Eccles, Shirley Hodgson, Anne-Marie Gerdes, Alexander Miron, Laima Tihomirova, Alan Donaldson, Adalgeir Arason, Rosalind A. Eeles, Fergus J. Couch, Hans Jörg Plendl, Francesca Vignolo-Lutati, Ute Hamann, Jackie Cook, Torben A Kruse, Shani Paluch-Shimon, Lisa Walker, Doris Steinemann, Dorothea Gadzicki, Juul T. Wijnen, Markus C. Fleisch, Kenneth Offit, Mary B. Daly, Jamal Zidan, Georgia Chenevix-Trench, Stephanie V. Blank, Marc Tischkowitz, Esther Darder, Annette Fontaine, Louise Izatt, Elżbieta Złowocka-Perłowska, Nadia Boutry-Kryza, Frans B. L. Hogervorst, Stefanie Engert, Danièle Muller, Susan M. Domchek, Phuong L. Mai, Senno Verhoef, Bernhard H. F. Weber, Cecilia M. Dorfling, Kathleen Claes, Kristiina Aittomäki, Annemarie H. van der Hout, Sharon Sand, Olufunmilayo I. Olopade, Margreet G. E. M. Ausems, Aleksandra Tołoczko-Grabarek, Trevor Cole, Giulietta Scuvera, Ana Osorio, Niklas Loman, Timothy R. Rebbeck, Riccardo Dolcetti, Marit Beer, Harsh B. Pathak, Douglas F. Easton, Lone Sunde, Conxi Lázaro, Raanan Berger, Paolo Radice, Mads Thomassen, Ignacio Blanco, Joseph Vijai, Kristie Bobolis, János Papp, Jean-Pierre Fricker, Christine Walsh, Patricia A. Ganz, Marie Stenmark-Askmalm, Andrea Gehrig, Vernon S. Pankratz, Atocha Romero, Xianshu Wang, Loris Bernard, Viviana Gismondi, Mary Porteous, Muy-Kheng Tea, Karen H. Lu, Gustavo C. Rodriguez, Bernardo Bonanni, Christoph Mundhenke, Julian Adlard, Bent Ejlertsen, Dominique Stoppa-Lyonnet, Nadine Tung, Patrick J. Morrison, Dezheng Huo, Cezary Cybulski, Jack Basil, Georg Pfeiler, Daphne Gschwantler-Kaulich, Heli Nevanlinna, Anders Bojesen, Marion Piedmonte, Katherine L. Nathanson, Amanda E. Toland, Sung-Won Kim, Judy Garber, Amanda B. Spurdle, Noralane M. Lindor, Sanne Traasdahl Moeller, Hans Ehrencrona, Trinidad Caldés, Rosemarie Davidson, Karin Kast, Jenny Lester, Shan Wang-Gohrke, Norbert Arnold, Ana Peixoto, Christine Lasset, Andreas Berger, Olga M. Sinilnikova, Katie Wakely, Claude Houdayer, Mercedes Durán, Robert L. Nussbaum, Ramūnas Janavičius, Christina G. Selkirk, Paolo Aretini, Nina Ditsch, J. Margriet Collée, Rosa B. Barkardottir, Sue Healey, Tomasz Huzarski, Cora M. Aalfs, Gillian Mitchell, Peter J. Hulick, Encarna B. Gomez Garcia, Zakaria Einbeigi, Christian F. Singer, Leigha Senter, Yuan Chun Ding, Dieter Niederacher, Yael Laitman, Siranoush Manoukian, Christoph Engel, Anne De Paepe, Anneliese Fink-Retter, Irene L. Andrulis, Rachel Laframboise, Maria A. Caligo, Priyanka Sharma, Miguel de la Hoya, Teresa Ramón y Cajal, Bruce Poppe, Thomas Hansen, Francesca Damiola, Anne-Bine Skytte, Susan L. Neuhausen, Christian Sutter, Marie-Agnès Collonge-Rame, Johannes J. P. Gille, Barbara Pasini, Wendy K. Chung, Noah D. Kauff, M. John Kennedy, Diana Torres, Salina B. Chan, Mark E. Robson, Elizabeth J. van Rensburg, Eric Hahnen, Barbara Wappenschmidt, Grzegorz Sukiennicki, Esther M. John, Rohini Rau-Murthy, Alice S. Whittemore, Kunle Odunsi, Masoud Azodi, John F. Boggess, Sue K. Park, Rita K. Schmutzler, Muriel Belotti, Jeffrey N. Weitzel, Simon A. Gayther, Fei Wan, Andrew K. Godwin, Arjen R. Mensenkamp, Daniela Zaffaroni, Jacques Simard, Susan Peock, Soo Hwang Teo, Claus R. Bartram, Evgeny N. Imyanitov, Maria-Isabel Tejada, Giuseppe Giannini, Mónica Salinas, Banu Arun, Jan C. Oosterwijk, Jacek Gronwald, Alexandra Becker, Tara M. Friebel, Lenka Foretova, Catherine Noguès, Muhammad Usman Rashid, Valeria Pensotti, Antonella Savarese, Debra Frost, Beatrice Melin, Drakoulis Yannoukakos, Steve Ellis, Jean-Philippe Peyrat, Hagay Sobol, Kim De Leeneer, Radka Platte, Jan Lubinski, Javier Godino, Lesley McGuffog, Tomasz Byrski, Claudine Isaacs, Johanna Rantala, Kelly-Anne Phillips, Carolien M. Kets, Uffe Birk Jensen, Katarzyna Durda, Linda Steele, Beth Y. Karlan, Ava Kwong, Alfons Meindl, Lucia Guidugli, Raymonda Varon-Mateeva, D. Gareth Evans, Edith Olah, Isabelle Mortemousque, Manuel R. Teixeira, Joyce Seldon, Katarzyna Jaworska-Bieniek, Bernard Peissel, Saundra S. Buys, Peter Devilee, Kerstin Rhiem, Eitan Friedman

Publikováno v: BASE-Bielefeld Academic Search Engine
Rebbeck, T R, Mitra, N, Wan, F, Sinilnikova, O M, Healey, S, McGuffog, L, Mazoyer, S, Chenevix-Trench, G, Easton, D F, Antoniou, A C, Nathanson, K L, Laitman, Y, Kushnir, A, Paluch-Shimon, S, Berger, R, Zidan, J, Friedman, E, Ehrencrona, H, Stenmark-Askmalm, M, Einbeigi, Z, Loman, N, Harbst, K, Rantala, J, Melin, B, Huo, D, Olopade, O I, Seldon, J, Ganz, P A, Nussbaum, R L, Chan, S B, Odunsi, K, Gayther, S A, Domchek, S M, Arun, B K, Lu, K H, Mitchell, G, Karlan, B Y, Walsh, C, Lester, J, Godwin, A K, Pathak, H, Ross, E, Gerdes, A-M, Hansen, T V O, Bojesen, A, Thomassen, M, Moeller, S T, Kruse, T A, Pedersen, I S, Skytte, A-B & CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', J A M A: The Journal of the American Medical Association, vol. 313, no. 13, pp. 1347-1361 . https://doi.org/10.1001/jama.2014.5985
JAMA-Journal of the American Medical Association, 313(13), 1347-1361. American Medical Association
JAMA-Journal of the American Medical Association, 313(13), 1347-1361. AMER MEDICAL ASSOC
Digital.CSIC. Repositorio Institucional del CSIC
instname
Jama : Journal of the American Medical Association, 313, 13, pp. 1347-61
JAMA, 313(13), 1347-1361. American Medical Association
Rebbeck, T R, Mitra, N, Wan, F, Sinilnikova, O M, Healey, S, McGuffog, L, Mazoyer, S, Chenevix-Trench, G, Easton, D F, Antoniou, A C, Nathanson, K L, Laitman, Y, Kushnir, A, Paluch-Shimon, S, Berger, R, Zidan, J, Friedman, E, Ehrencrona, H, Stenmark-Askmalm, M, Einbeigi, Z, Loman, N, Harbst, K, Rantala, J, Melin, B, Huo, D, Olopade, O I, Seldon, J, Ganz, P A, Nussbaum, R L, Chan, S B, Odunsi, K, Gayther, S A, Domchek, S M, Arun, B K, Lu, K H, Mitchell, G, Karlan, B Y, Walsh, C, Lester, J, Godwin, A K, Pathak, H, Ross, E, Daly, M B, Whittemore, A S, John, E M, Miron, A, Terry, M B, Chung, W K, Goldgar, D E, Pedersen, I S & CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', JAMA: The Journal of the American Medical Association, vol. 313, no. 13, pp. 1347-61 . https://doi.org/10.1001/jama.2014.5985
CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', JAMA, vol. 313, no. 13, pp. 1347-61 . https://doi.org/10.1001/jama.2014.5985
Jama : Journal of the American Medical Association, 313, 1347-61
Rebbeck, T R, Mitra, N, Wan, F, Sinilnikova, O M, Healey, S, McGuffog, L, Mazoyer, S, Chenevix-Trench, G, Easton, D F, Antoniou, A C, Nathanson, K L, Laitman, Y, Kushnir, A, Paluch-Shimon, S, Berger, R, Zidan, J, Friedman, E, Ehrencrona, H, Stenmark-Askmalm, M, Einbeigi, Z, Loman, N, Harbst, K, Rantala, J, Melin, B, Huo, D, Olopade, O I, Seldon, J, Ganz, P A, Nussbaum, R L, Chan, S B, Odunsi, K, Gayther, S A, Domchek, S M, Arun, B K, Lu, K H, Mitchell, G, Karlan, B Y, Walsh, C, Lester, J, Godwin, A K, Pathak, H, Ross, E, Daly, M B, Whittemore, A S, John, E M, Miron, A, Pedersen, I S, Skytte, A-B, Sunde, L, Jensen, U B & CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', JAMA: The Journal of the American Medical Association, vol. 313, no. 13, pp. 1347-61 . https://doi.org/10.1001/jama.2014.5985
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
JAMA, 313(13), 1347-61. American Medical Association

CIMBA Consortium et al.
PMID: 25849179
[Importance]: Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. [Objective]: To identify mutation-specific cancer risks for carri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0415ece5c738d9598312bc28311732ca
https://doi.org/10.1001/jama.2014.5985