المؤلفون: Marco Montagna, Mark E. Robson, Daniel Barrowdale, Mark H. Greene, Adrià López-Fernández, Miquel Angel Pujana, Paul Brennan, Lucy Side, Jackie Cook, Munaza Ahmed, Christi J. van Asperen, Katherine L. Nathanson, Ian G. Campbell, Shan Wang-Gohrke, Gero Kramer, Debra Frost, Noura Mebirouk, Angel Izquierdo, Conxi Lázaro, Douglas F. Easton, Joe Dennis, Kenneth Offit, Esther Darder, Stefania Tommasi, Angela Toss, Brca, Virginia Valentini, Tu Nguyen-Dumont, Charlotte Kvist Lautrup, Manuel R. Teixeira, Mads Thomassen, Xin Yang, Susan M. Domchek, Valentina Silvestri, Paolo Radice, Marta Venturelli, Joseph Vijai, Pedro Pinto, Caroline Pottinger, Karina Rønlund, Lone Kroeldrup, Paul A. James, Alan Donaldson, Rita K. Schmutzler, Muriel Belotti, Kim De Leeneer, Lesley McGuffog, Susan L. Neuhausen, Amanda E. Toland, Siranoush Manoukian, Vishakha Tripathi, Adalgeir Arason, Pascaline Berthet, Linda Steele, Judit Horvath, Gord Glendon, Goska Leslie, Eva Gross, Anna Coppa, D. J. Gallagher, Payal D. Shah, Hebon Investigators, Alfons Meindl, Orland Diez, Irene L. Andrulis, Angela F. Brady, Giuseppe Damante, Paolo Peterlongo, Ana Sánchez de Abajo, Maria A. Caligo, Alison H. Trainer, Sophie Giraud, Saba Sharif, Christian Sutter, Johanna Rantala, Javier Benitez, Mark T. Rogers, kConFab Investigators, Lídia Feliubadaló, Inge Søkilde Pedersen, Annabeth Høgh Petersen, Jesús del Valle, Agostino Bucalo, Andrea Gehrig, Megan N. Frone, Judith Balmaña, Marc Tischkowitz, Thomas Hansen, Joan Brunet, Ines Zanna, Torben A Kruse, Carole Brewer, Bernard Peissel, Helen Gregory, Mary Porteous, Rosa B. Barkardottir, Andreas Rump, Ros Eeles, Anna Whaite, Saundra S. Buys, Fabienne Lesueur, Lisa Walker, Laura Ottini, Louise Izatt, Antonis C. Antoniou, Georgia Chenevix-Trench, Susanne E. Boonen, Hayley Cassingham, Jacques Simard, Christoph Engel, Patrick J. Morrison, Lise Lotte Christensen, Giulia Cini, Alvaro N.A. Monteiro, Kathleen Claes, Jacqueline Eason, Zoltan Matrai, Uffe Birk Jensen, Kristiina Aittomäki, Ramunas Janavicius, Olufunmilayo I. Olopade, Bjarni A. Agnarsson, Kara N. Maxwell, Julian Barwell, Bernd Auber, Julian Adlard, Esther M. John, Alex Teulé, Miguel de la Hoya, Darcy L. Thull, David E. Goldgar, Alessandra Viel, Dominique Stoppa-Lyonnet, Barbara Wappenschmidt, Phuong L. Mai, Taru A. Muranen, Eric Hahnen, Fergus J. Couch, Laura Matricardi, Domenico Palli, Yen Y. Tan, Julia Hentschel, Florentia Fostira, Ute Hamann, Trinidad Caldés, Rosemarie Davidson, Daniel R. Barnes, Åke Borg, Pedro Pérez-Segura, Aniko Bozsik, Yuan Chun Ding, Dieter Niederacher, Heli Nevanlinna, Helen Hanson, Norbert Arnold, Robin de Putter, Juliane Ramser, Alex Murray, Laura Cortesi, Christian F. Singer, Jacopo Azzollini, Zsofia K. Stadler, Oskar T. Johannsson, Andrew K. Godwin, D. Gareth Evans, Edith Olah, Michael T. Parsons

المساهمون: Medicum, Research Programs Unit, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki University Hospital Area, Research Program in Systems Oncology, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Clinicum, Institut Català de la Salut, [Barnes DR, Leslie G, McGuffog L, Dennis J, Yang X] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Silvestri V] Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy. [Balmaña J] Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Barnes, D R, Silvestri, V, Leslie, G, McGuffog, L, Dennis, J, Yang, X, Adlard, J, Agnarsson, B A, Ahmed, M, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Barwell, J, Belotti, M, Benitez, J, Berthet, P, Boonen, S E, Borg, Å, Bozsik, A, Brady, A F, Brennan, P, Brewer, C, Brunet, J, Bucalo, A, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Cassingham, H, Christensen, L L, Cini, G, Claes, K B M, Cook, J, Coppa, A, Cortesi, L, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Hansen, T V O, Horvath, J, Jensen, U B, Lautrup, C, Pedersen, I S & GEMO Study Collaborators 2022, ' Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores ', Journal of the National Cancer Institute, vol. 114, no. 1, 147, pp. 109-122 . https://doi.org/10.1093/jnci/djab147Test
JNCI Journal of the National Cancer Institute
Barnes, D R, Silvestri, V, Leslie, G, McGuffog, L, Dennis, J, Yang, X, Adlard, J, Agnarsson, B A, Ahmed, M, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Barwell, J, Belotti, M, Benitez, J, Berthet, P, Boonen, S E, Borg, Å, Bozsik, A, Brady, A F, Brennan, P, Brewer, C, Brunet, J, Bucalo, A, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Cassingham, H, Christensen, L L, Cini, G, Claes, K B M, Cook, J, Coppa, A, Cortesi, L, Damante, G, Darder, E, Davidson, R, de la Hoya, M, De Leeneer, K, de Putter, R, Del Valle, J, Diez, O, Ding, Y C, Domchek, S M, Donaldson, A, Eason, J, Eeles, R, Engel, C, Evans, D G, Feliubadaló, L, Fostira, F, Frone, M, Frost, D, Gallagher, D, Gehrig, A, Giraud, S, Glendon, G, Godwin, A K, Goldgar, D E, Greene, M H, Gregory, H, Gross, E, Hahnen, E, Hamann, U, Hansen, T V O, Hanson, H, Hentschel, J, Horvath, J, Izatt, L, Izquierdo, A, James, P A, Janavicius, R, Jensen, U B, Johannsson, O T, John, E M, Kramer, G, Kroeldrup, L, Kruse, T A, Lautrup, C, Lazaro, C, Lesueur, F, Lopez-Fernández, A, Mai, P L, Manoukian, S, Matrai, Z, Matricardi, L, Maxwell, K N, Mebirouk, N, Meindl, A, Montagna, M, Monteiro, A N, Morrison, P J, Muranen, T A, Murray, A, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nguyen-Dumont, T, Niederacher, D, Olah, E, Olopade, O I, Palli, D, Parsons, M T, Pedersen, I S, Peissel, B, Perez-Segura, P, Peterlongo, P, Petersen, A H, Pinto, P, Porteous, M E, Pottinger, C, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Robson, M, Rogers, M T, Rønlund, K, Rump, A, Sánchez de Abajo, A M, Shah, P D, Sharif, S, Side, L E, Singer, C F, Stadler, Z, Steele, L, Stoppa-Lyonnet, D, Sutter, C, Tan, Y Y, Teixeira, M R, Teulé, A, Thull, D L, Tischkowitz, M, Toland, A E, Tommasi, S, Toss, A, Trainer, A H, Tripathi, V, Valentini, V, van Asperen, C J, Venturelli, M, Viel, A, Vijai, J, Walker, L, Wang-Gohrke, S, Wappenschmidt, B, Whaite, A, Zanna, I, Offit, K, Thomassen, M, Couch, F J, Schmutzler, R K, Simard, J, Easton, D F, Chenevix-Trench, G, Antoniou, A C, Ottini, L & GEMO Study Collaborators 2022, ' Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores ', Journal of the National Cancer Institute, vol. 114, no. 1, pp. 109-122 . https://doi.org/10.1093/jnci/djab147Test
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of the National Cancer Institute, 114(1), 109-122. OXFORD UNIV PRESS INC
JNCI-Journal of the National Cancer Institute, Oxford : Oxford University Press, 2022, vol. 114, iss. 1, p. 109-122
GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, BRCA1 & BRCA2 2022, ' Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores ', National Cancer Institute. Journal (Online), vol. 114, no. 1, 147, pp. 109-122 . https://doi.org/10.1093/jnci/djab147Test
Scientia
GEMO Study Collaborators, Kristensen, L K, Jensen, U B, Lautrup, C K & Høgh Petersen, A 2022, ' Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores ', National Cancer Institute. Journal (Online), vol. 114, no. 1, djab147, pp. 109-122 . https://doi.org/10.1093/jnci/djab147Test

مصطلحات موضوعية: Oncology, Male, Cancer Research, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], Diàtesi, polygenic, male breast cancer, PRS, Medical Oncology, Prostate cancer, Breast cancer, 0302 clinical medicine, Prostate, Risk Factors, Medicine and Health Sciences, 80 and over, genetics, skin and connective tissue diseases, Aged, 80 and over, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], 0303 health sciences, education.field_of_study, BRCA1 Protein, Men, Articles, ASSOCIATION, Single Nucleotide, prostate cancer, OVARIAN, BRCA1, BRCA2, 3. Good health, Mutation carriers, medicine.anatomical_structure, Ovarian, 030220 oncology & carcinogenesis, Male breast cancer, Pròstata - Càncer - Aspectes genètics, BRCA2 Protein, Genetic Predisposition to Disease, Heterozygote, Humans, Mutation, Polymorphism, Single Nucleotide, Risk Assessment, Breast Neoplasms, Prostatic Neoplasms, AcademicSubjects/MED00010, medicine.medical_specialty, Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Male::Prostatic Neoplasms [DISEASES], Urology, 3122 Cancers, Population, Single-nucleotide polymorphism, MUTATION CARRIERS, Càncer de mama, Association, 03 medical and health sciences, Internal medicine, medicine, Polymorphism, education, fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], 030304 developmental biology, Aged, Càncer de pròstata, business.industry, Cancer, Odds ratio, medicine.disease, neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales masculinos::neoplasias de la próstata [ENFERMEDADES], Homes, Mama - Càncer - Aspectes genètics, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c81f6326649ecf1e3ace95b9e9e43d8Test
https://hdl.handle.net/11380/1280528Test

المؤلفون: Carolina Gómez, Joan Brunet, Gabriel Capellá, Eva Montes, Mireia Menéndez, Conxi Lázaro, Marta Pineda, Jesús del Valle, Rafael de Cid, Lídia Feliubadaló, Paula Rofes

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Dipòsit Digital de la UB
Universidad de Barcelona
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

مصطلحات موضوعية: Gene isoform, Heredity, Science, Ubiquitin-Protein Ligases, Càncer d'ovari, Breast Neoplasms, Biology, Polymerase Chain Reaction, Germline, Article, Càncer de mama, Frameshift mutation, Exon, Breast cancer, Human genetics, Ovarian cancer, Risk Factors, BARD1, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Cancer genetics, Genetics, Gynaecological cancer, Ovarian Neoplasms, Genètica humana, Multidisciplinary, Molecular medicine, Tumor Suppressor Proteins, RNA, Genetic Variation, Alternative Splicing, Case-Control Studies, RNA splicing, Allelic Imbalance, Medicine, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fefbed415b43374fd2e4f6c09ce9703aTest
http://europepmc.org/articles/PMC8617171Test

المؤلفون: Emma Tudini, Setareh Moghadasi, Conxi Lázaro, Dieter Niederacher, Lizet E. van der Kolk, Ans M.W. van den Ouweland, Lídia Feliubadaló, Barbara Wappenschmidt, Michael T. Parsons, Amanda B. Spurdle

المساهمون: Clinical Genetics

المصدر: Breast Cancer Research and Treatment, 172(2), 497-503. Springer New York
Breast Cancer Research and Treatment, 172(2), 497-503

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, DNA Repair, DNA repair, Posterior probability, Mutation, Missense, Breast Neoplasms, Biology, Conserved sequence, Evolution, Molecular, Mice, 03 medical and health sciences, Bayes' theorem, Animals, Humans, Missense mutation, Genetic Predisposition to Disease, Clinical significance, Breast and ovarian cancer, Conserved Sequence, Sequence (medicine), Genetics, Evolutionary conservation, Multiple sequence alignment, BRCA1 Protein, Bayes Theorem, BRCA1, Multifactorial likelihood analysis, 030104 developmental biology, Oncology, Variant classification, Female, Sequence Alignment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf932fdc5a5e01d47a1cbdab081a8841Test
https://hdl.handle.net/1887/88333Test

المؤلفون: Marco Montagna, Bruno Buecher, Goska Leslie, Daniel Barrowdale, Anita Bane, Louise Izatt, Eitan Friedman, Yosr Hamdi, Kenneth Offit, Klaartje van Engelen, Soo Hwang Teo, Frans B. L. Hogervorst, Conxi Lázaro, Sylvie Mazoyer, Diana Eccles, Yuan Chun Ding, Laura Papi, Georgia Chenevix-Trench, Katarzyna Kaczmarek, Laima Tihomirova, Jacek Gronwald, Jocelyne Chiquette, Patricia A. Ganz, Thomas P. Slavin, Kathleen Claes, Paolo Radice, Elizabeth J. van Rensburg, Adalgeir Arason, Lenka Foretova, Milena Mariani, Johanna Rantala, Pascaline Berthet, Evgeny N. Imyanitov, Claudine Isaacs, Esther M. John, Maite Laurent, Irene L. Andrulis, Juul T. Wijnen, Paolo Peterlongo, Susan M. Domchek, Banu Arun, Amanda E. Toland, Anna Marie Mulligan, Penny Soucy, Kristiina Aittomäki, Orland Diez, Heli Nevanlinna, Anne-Marie Gerdes, Austin Miller, Olufunmilayo I. Olopade, Raymonda Varon-Mateeva, Alfons Meindl, Cecilia M. Dorfling, Niklas Loman, Paul A. James, Susan L. Neuhausen, Muy Kheng Tea, Inge Søkilde Pedersen, Arnaud Droit, D. Gareth Evans, Mark E. Robson, Jennifer T. Loud, Jan C. Oosterwijk, Judy Garber, Douglas F. Easton, Jacques Simard, Mark H. Greene, Pamela S. Ganschow, Edith Olah, Audrey Lemaçon, Norbert Arnold, Catherine M. Phelan, Gad Rennert, Judy Kirk, Johanna Sokolowska, Tomi Pastinen, Robert L. Nussbaum, Simon A. Gayther, Karoline B. Kuchenbaeker, Mads Thomassen, Ros Eeles, Riccardo Dolcetti, Hanne Meijers-Heijboer, Marc Tischkowitz, George Fountzilas, Laure Barjhoux, Kristie Bobolis, Christoph Engel, Bernardo Bonanni, Sue K. Park, Beth Y. Karlan, Nicolas Sevenet, Bent Ejlertsen, Wendy K. Chung, Timothy R. Rebbeck, Amanda B. Spurdle, Peter J. Hulick, Mary B. Daly, Yen Y. Tan, Annelie Liljegren, Carolien M. Kets, Miguel de la Hoya, Gord Glendon, Mieke Kriege, Rita K. Schmutzler, Manuel R. Teixeira, Christine Rappaport-Fuerhauser, Pedro Pérez Segura, William D. Foulkes, Rosemarie Davidson, Steven N. Hart, Javier Benitez, Jenny Lester, Melissa C. Southey, Ramunas Janavicius, Uffe Birk Jensen, Zakaria Einbeigi, Christian F. Singer, Jacopo Azzollini, Alex Teulé, David E. Goldgar, Ans M.W. van den Ouweland, Anna Jakubowska, Angela R. Bradbury, Dominique Stoppa-Lyonnet, Carole Brewer, Zsofia K. Stadler, Nadine Tung, Eric Hahnen, Vijai Joseph, Grzegorz Sukiennicki, Siranoush Manoukian, Debra Frost, Maria A. Caligo, Andrew K. Godwin, Christian Sutter, Bernard Peissel, Andrea L. Richardson, Kim De Leeneer, Antonis C. Antoniou, Florentia Fostira, Lesley McGuffog, Matti A. Rookus, Mary Beth Terry, Saundra S. Buys, Fabienne Lesueur, Gustavo C. Rodriguez, Julian Adlard, Barbara Wappenschmidt, Marinus J. Blok, Yael Laitman, Rob B. van der Luijt, Thomas Hansen, Francesca Damiola, Katherine L. Nathanson, Silje Nord, Kai Ren Ong, Ana Osorio, Katie Snape, Fergus J. Couch, John L. Hays, Walter Just, Ute Hamann, Silvia Tognazzo, Payal D. Shah, Valérie Bonadona, Ida Marie Heeholm Sonderstrup, Lídia Feliubadaló

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), European Research Council, Cancer Research UK (Reino Unido), Post-cancer GWAS Initiative, United States Department of Defense, Research Council of Lithuania, Asociación Española Contra el Cáncer, Red Temática de Investigación Cooperativa en Cáncer (España), Fondation ARC pour la recherche sur le cancer, Canadian Institutes of Health Research, Ministère de Économie, Innovation et Exportation (Canadá), University of Kansas. Cancer Center (Estados Unidos), Deutsche Krebshilfe, Leipzig Research Centre for Civilization Diseases, Non-therapeutic Subject Registry Shared Resource at Georgetown University (NIH/NCI), Instituto de Salud Carlos III, Finlands Akademi (Finlandia), Dutch Cancer Society (Holanda), Dutch Research Council (Holanda), Pink Ribbons Project, Biobanking and BioMolecular resources Research Infrastructure (Países Bajos), Transcan Grant JTC Cancer, Hungarian Research Grants, Government of Catalonia (España), Ministry of Health and Welfare (Corea del Sur), United States of Department of Health & Human Services, State Budget of the Czech Republic (RECAMO), Charles University (República Checa), Westat (Estados Unidos), Russian Foundation for Basic Research, GOG Foundation. Gynecologic Oncology Group, Italian Association for Cancer Research, Clinical Genetics, CCA - Cancer biology and immunology, Human genetics, Epidemiology and Data Science, Human Genetics, Leslie, Goska [0000-0001-5756-6222], Tischkowitz, Marc [0000-0002-7880-0628], Easton, Douglas [0000-0003-2444-3247], Antoniou, Antonis [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Medicum, Clinicum, Department of Medical and Clinical Genetics, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON)

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Breast Cancer Research and Treatment, 161(1), 117-134. Springer, Cham
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Foretova, L, Fostira, F, Pedersen, I S & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2Test
Breast Cancer Research and Treatment, 161(1), 117-134. Springer New York
Breast Cancer Research and Treatment, 161, 1, pp. 117-134
Breast Cancer Research and Treatment, 161, 117-134
Hamdi, Y; Soucy, P; Kuchenbaeker, KB; Pastinen, T; Droit, A; Lemacon, A; et al.(2017). Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. BREAST CANCER RESEARCH AND TREATMENT, 161(1), 117-134. doi: 10.1007/s10549-016-4018-2. UCLA: Retrieved from: http://www.escholarship.org/uc/item/03k1w9cmTest
Breast Cancer Research and Treatment, 161(1), 117-134
Breast Cancer Research and Treatment, 161(1), 117. Springer New York
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Foretova, L, Jensen, U B, Pedersen, I S & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117–134 . https://doi.org/10.1007/s10549-016-4018-2Test
Breast cancer research and treatment, 161(1), 117-134. Springer New York
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Azzollini, J, Arun, B K, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K A, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, de la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, EMBRACE, Engel, C, Gareth Evans, D, Feliubadaló, L, Foretova, L, Fostira, F, Gerdes, A-M, Easton, D F, Antoniou, A C & Simard, J 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2Test
kConFab Investigators, HEBON, GEMO Study Collaborators & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2Test
BREAST CANCER RESEARCH AND TREATMENT
Repisalud
Instituto de Salud Carlos III (ISCIII)
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Meijers-Heijboer, H E J, Oosterwijk, J C, van Engelen, K, EMBRACE, GEMO Study Collaborators, HEBON & KConFab Investigators 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2Test
Breast Cancer Research and Treatment
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benítez, J, Berthet, P, Blok, M J, Bobolis, K A, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, de la Hoya, M, De Leeneer, K, Díez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadaló, L, Foretova, L, Gerdes, A-M, Thomassen, M & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2Test
Breast Cancer Research and Treatment, 161(1), 117-134. SPRINGER

مصطلحات موضوعية: 0301 basic medicine, Genetic modifiers, Cancer Research, Epidemiology, Genes, BRCA2, BRCA1 and BRCA2 mutation carriers, Genes, BRCA1, Gene Expression, Gene mutation, DISEASE, Breast cancer, 3123 Gynaecology and paediatrics, Medicine and Health Sciences, INVESTIGATORS, mutation carriers, skin and connective tissue diseases, Genetics, 1184 Genetics, developmental biology, physiology, 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Oncology, Female, Differential allelic expression, Risk, Heterozygote, 3122 Cancers, Quantitative Trait Loci, NPAT, Single-nucleotide polymorphism, Locus (genetics), Breast Neoplasms, Quantitative trait locus, Biology, OVARIAN-CANCER, 03 medical and health sciences, CYCLIN E-CDK2, SDG 3 - Good Health and Well-being, Journal Article, medicine, Genetic predisposition, Genetic susceptibility, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Allele, BRCA1 and BRCA2, Alleles, Genetic association, HUMAN-CELLS, Chromosomes, Human, Pair 11, CONSORTIUM, Genetic Variation, DNA, medicine.disease, 030104 developmental biology, Mutation, Cis-regulatory variants, 3111 Biomedicine

وصف الملف: application/pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba8cf2d9bb045cb1dbafc6fe95cfcd7bTest
https://hdl.handle.net/20.500.12530/33541Test

المؤلفون: Eva Esteban-Cardeñosa, Cristina Miner, Eva María Sánchez-Tapia, Mar Infante, Mercedes Durán, Lídia Feliubadaló, María García-González, Ana Osorio, Orland Diez, Beatriz Díez-Gómez, Cristina Martínez-Bouzas, Miguel de la Hoya, Alberto Acedo, Alicia Barroso, Rogelio González-Sarmiento, Adriana Lasa, Eladio Velasco, Javier Godino, Enrique Lastra, Alexandre Teulé

المساهمون: Instituto de Salud Carlos III, Junta de Castilla y León, European Commission, Generalitat de Catalunya, Asociación Española Contra el Cáncer

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
CARCINOGENESIS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

مصطلحات موضوعية: Adult, Male, Cancer Research, Genotype, Molecular Sequence Data, Breast Neoplasms, Dna variants, Biology, Germline, BRCA2 Mutation, Mutational hotspot, Humans, Family, Base Pairing, Aged, Aged, 80 and over, BRCA2 Protein, Genetics, Polymorphism, Genetic, Base Sequence, Mutagenesis, Haplotype, General Medicine, Middle Aged, Prognosis, Haplotypes, Spain, Genetic marker, Mutation, Mutation (genetic algorithm), Female, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bab460620b7fadaf29ffe83535f0220eTest
https://doi.org/10.1093/carcin/bgt272Test

المؤلفون: Agnieszka Dansonka-Mieszkowska, Angela Brooks-Wilson, Ingo B. Runnebaum, Kenneth Offit, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Christine Maugard, Marco Montagna, Annette Fontaine, Janusz Menkiszak, Robert Winqvist, Pascal Guénel, Rosalind Glasspool, Usha Menon, Daniel Barrowdale, Elinor J. Sawyer, Anna Jakubowska, Paul D.P. Pharoah, Martha J. Shrubsole, Lambertus A. Kiemeney, Camilla Krakstad, Dong Liang, Minouk J. Schoemaker, Judith S. Brand, Joseph Vijai, Marc T. Goodman, Thomas A. Sellers, David Van Den Berg, Celeste Leigh Pearce, Alice S. Whittemore, Irene L. Andrulis, Radka Platte, Kunle Odunsi, Orland Diez, Estrid Høgdall, Brooke L. Fridley, C. J. van Asperen, Mary Anne Rossing, Vessela N. Kristensen, Jonathan Tyrer, Tara M. Friebel, Douglas F. Easton, Per Hall, Mads Thomassen, Christine Walsh, Thilo Dörk, Louise A. Brinton, Keith Humphreys, Douglas A. Levine, Allison F. Vitonis, Anna H. Wu, Hermann Brenner, Maria Bisogna, Joellen M. Schildkraut, Maria A. Caligo, Jonine D. Figueroa, Lynne R. Wilkens, Grace Friel, Michael G. Schrauder, Evgeny N. Imyanitov, Sune F. Nielsen, Sylvie Mazoyer, Diana Eccles, Andrew Berchuck, Sara Margolin, Mitul Shah, Matthias W. Beckmann, Elizabeth M. Poole, Gad Rennert, Arif B. Ekici, Elisa Alducci, Bjarni A. Agnarsson, Linda S. Cook, Javier Benitez, Paolo Peterlongo, Natalia Antonenkova, Annika Lindblom, Patrick Neven, Julia A. Knight, Alan Ashworth, Matti A. Rookus, Frans B. L. Hogervorst, Daniela Zaffaroni, Banu Arun, Sue Healey, Robert P. Edwards, Susanne K. Kjaer, Laura J. van't Veer, John W.M. Martens, Christa Stegmaier, Claudine Isaacs, Daniel W. Cramer, Lars Beckmann, Liisa M. Pelttari, Dieter Flesch-Janys, Irene Orlow, Atocha Romero, Diana Torres, Marjanka K. Schmidt, Simon S. Cross, Alison M. Dunning, Rosemary L. Balleine, Sandra L. Halverson, Benoit Beuselinck, Melissa C. Larson, Senno Verhoef, Jirong Long, Angela Cox, Maartje J. Hooning, Bruce Poppe, Katarzyna Jaworska, Jolanta Kupryjanczyk, Nicolas Wentzensen, Gustavo C. Rodriguez, Tanja Pejovic, Roberta B. Ness, James Paul, Dominique Stoppa-Lyonnet, Nadine Tung, Gianluca Severi, Malcolm C. Pike, Hoda Anton-Culver, Ans M.W. van den Ouweland, Mark E. Robson, Roger L. Milne, Jan C. Oosterwijk, Laima Tihomirova, Helen Tsimiklis, Pierre Laurent-Puig, Florian Heitz, Beth Y. Karlan, Ian Tomlinson, Thérèse Truong, Bernardo Bonanni, Frederik Marmé, Qin Wang, Conxi Lázaro, Volker Arndt, Antoinette Hollestelle, Jacek Gronwald, M. Pilar Zamora, Barbara Wappenschmidt, Maren Weischer, Veli-Matti Kosma, Giulietta Scuvera, Jenny Lester, Andreas Berger, Stephen J. Chanock, Line Bjørge, Anthony J. Swerdlow, Andrew K. Godwin, Mervi Grip, Amanda E. Toland, Anna Marie Mulligan, Noralane M. Lindor, Paolo Radice, Bent Ejlertsen, Frederieke H. van der Baan, Lothar Haeberle, Valerie McGuire, Kamila Czene, Rob A. E. M. Tollenaar, Maria Soller, Katherine L. Nathanson, Sandrina Lambrechts, Susan J. Ramus, Anja Rudolph, Penny Soucy, Caroline Weltens, Hiltrud Brauch, Olivia Fletcher, Sara H. Olson, Yael Laitman, Marion Piedmonte, Arto Mannermaa, Agnieszka Budzilowska, Olga M. Sinilnikova, Christian F. Singer, Cezary Cybulski, Weiva Sieh, Ed Dicks, Elizabeth J. van Rensburg, Isabel dos Santos Silva, Hans Ehrencrona, Timothy R. Rebbeck, Jaana M. Hartikainen, Sandra Orsulic, Jingmei Li, Carmel Apicella, Anna deFazio, Ian G. Campbell, Ignace Vergote, Rita K. Schmutzler, Fredrick R. Schumacher, Julian Peto, Nadeem Siddiqui, Brian E. Henderson, Starr R. Guzman, Maria Kabisch, John L. Hopper, Arto Leminen, Jeffrey N. Weitzel, Honglin Song, J. Margriet Collée, Ingvild L. Tangen, Børge G. Nordestgaard, Antonis C. Antoniou, Lara Sucheston, Helena C. van Doorn, Lídia Feliubadaló, Leon F.A.G. Massuger, Iain A. McNeish, Nichola Johnson, Simon A. Gayther, Jennifer A. Doherty, Anders Bojesen, Gord Glendon, Yukie Bean, Celine M. Vachon, Barbara Burwinkel, Edith Olah, Shan Wang-Gohrke, Brita Arver, Marc Tischkowitz, Arja Jukkola-Vuorinen, Martin Gore, Vesa Kataja, Nicola Miller, Pamela J. Thompson, Malcolm W.R. Reed, Michelle A.T. Hildebrandt, Ritu Salani, Janet E. Olson, Catriona McLean, Cecilia M. Dorfling, Georgia Chenevix-Trench, Frederique Mariette, Laura Ottini, Fergus J. Couch, Linda E. Kelemen, Nhu D. Le, Michael J. Kerin, Claus Høgdall, Miguel de la Hoya, Jonathan Carter, Mercedes Durán, Inge Søkilde Pedersen, Julie M. Cunningham, Manjeet K. Bolla, Galina Lurie, Loic Le Marchand, Ute Hamann, Muy-Kheng Tea, Karoline Kuchenbaecker, Irene Konstantopoulou, Thomas Hansen, Francesca Damiola, Stefano Fortuzzi, Shelley S. Tworoger, Mikael Eriksson, Carl Blomqvist, Joan Brunet, Allan Jensen, Karen Lu, Elisa V. Bandera, Anne M. van Altena, Anne-Marie Gerdes, Lene Lundvall, Susan L. Neuhausen, Wei Zheng, Ana Osorio, Fiona Bruinsma, Hannah P. Yang, Graham G. Giles, Christoph Engel, Nick Orr, Harvey A. Risch, Jan Lubinski, Jacoba P. Knol-Bout, Phuong L. Mai, Martine Dumont, Xifeng Wu, Christof Sohn, Noah D. Kauff, Kristiina Aittomäki, Natalia Bogdanova, Alexander Hein, Francesmary Modugno, Heli Nevanlinna, Helga B. Salvesen, Adriana Lasa, Daphne Gschwantler Kaulich, Dominiek Smeets, Jenny Permuth-Wey, Josef Herzog, Catherine M. Phelan, Clareann H. Bunker, Steve Ellis, Christopher A. Haiman, Jolanta Lissowska, Judy Garber, Joanna Plisiecka-Halasa, Robert A. Vierkant, Steven A. Narod, Mark H. Greene, Florence Menegaux, Norbert Arnold, Primitiva Menéndez, Robert L. Nussbaum, Katja K.H. Aben, Andreas Schneeweiss, Katri Pylkäs, Els Van Nieuwenhuysen, Tomasz Huzarski, Joe Dennis, Susan M. Domchek, Andreas du Bois, Aleksandra Gentry-Maharaj, Florentia Fostira, Mary Beth Terry, Jenny Chang-Claude, Eitan Friedman, Argyrios Ziogas, Hatef Darabi, Kathleen Claes, Ellen L. Goode, Olufunmilayo I. Olopade, Stig E. Bojesen, Jo Perkins, Raanan Berger, Sharon E. Johnatty, Taru A. Muranen, Montserrat Garcia-Closas, Uffe Birk Jensen, Thomas Brüning, Heiko Müller, Debra Frost, Peter A. Fasching, Lesley McGuffog, Diether Lambrechts, Kelly-Anne Phillips, Caroline M. Seynaeve, Kathryn L. Terry, Ira Schwaab, Ralf Bützow, Manuel R. Teixeira, Joseph H. Rothstein, Bernard Peissel, Anna von Wachenfeldt, Saundra S. Buys, Peter Devilee, Alfons Meindl, Laura Baglietto, Kirsten B. Moysich, Arjen R. Mensenkamp, Philipp Harter, Jacques Simard

المساهمون: Generalitat de Catalunya, Ministerio de Ciencia e Innovación (España), Fundación Mutua Madrileña, Asociación Española Contra el Cáncer, Instituto de Salud Carlos III, National Institutes of Health (US), Wellcome Trust, European Commission, National Cancer Institute (US), Medical Oncology, Clinical Genetics, Erasmus MC other, Pediatric Surgery, Pathology, Neurology

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Gynecologic Oncology, 141, 386-401
Gynecologic Oncology, 141(2), 386-401. Academic Press
Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, Australian Ovarian Cancer Study Group, Breast Cancer Family Register, EMBRACE, GEMO Study Collaborators, GENICA Network, HEBON, kConFab Investigators & SWE-BRCA 2016, ' No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer ', Gynecologic Oncology, vol. 141, no. 2, pp. 386-401 . https://doi.org/10.1016/j.ygyno.2015.04.034Test
Hollestelle, A, van der Baan, F H, Berchuck, A, Johnatty, S E, Aben, K K, Agnarsson, B A, Aittomäki, K, Alducci, E, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Antoniou, A C, Apicella, C, Arndt, V, Arnold, N, Arun, B K, Arver, B, Ashworth, A, Baglietto, L, Balleine, R, Bandera, E V, Barrowdale, D, Bean, Y T, Beckmann, L, Beckmann, M W, Benitez, J, Berger, A, Berger, R, Beuselinck, B, Bisogna, M, Bjorge, L, Blomqvist, C, Bogdanova, N V, Bojesen, A, Bojesen, S E, Bolla, M K, Bonanni, B, Brand, J S, Brauch, H, Brenner, H, Brinton, L, Brooks-Wilson, A, Bruinsma, F, Brunet, J, Brüning, T, Budzilowska, A, Bunker, C H, Burwinkel, B, Butzow, R, Jensen, U B & Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2 2015, ' No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer ', Gynecologic Oncology . https://doi.org/10.1016/j.ygyno.2015.04.034Test
Gynecologic Oncology, 141(2), 386-401
Hollestelle, A, van der Baan, F H, Berchuck, A, Johnatty, S E, Aben, K K, Agnarsson, B A, Aittomäki, K, Alducci, E, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Antoniou, A C, Apicella, C, Arndt, V, Arnold, N, Arun, B K, Arver, B, Ashworth, A, Baglietto, L, Balleine, R, Bandera, E V, Barrowdale, D, Bean, Y T, Beckmann, L, Beckmann, M W, Benitez, J, Berger, A, Berger, R, Beuselinck, B, Bisogna, M, Bjorge, L, Blomqvist, C, Bogdanova, N V, Bojesen, A, Bojesen, S E, Bolla, M K, Bonanni, B, Brand, J S, Brauch, H, Brenner, H, Brinton, L, Brooks-Wilson, A, Bruinsma, F, Brunet, J, Brüning, T, Budzilowska, A, Bunker, C H, Burwinkel, B, Butzow, R, Pedersen, I S & Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2 2016, ' No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer ', Gynecologic Oncology, vol. 141, no. 2, pp. 386-401 . https://doi.org/10.1016/j.ygyno.2015.04.034Test
Gynecologic Oncology, 141, 2, pp. 386-401
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: 0301 basic medicine, Oncology, endocrine system diseases, Endometriosis, Breast cancer, Clinical outcome, Genetic association, KRAS variant, Ovarian cancer, Genome-wide association study, Carcinoma, Ovarian Epithelial, medicine.disease_cause, Prostate, Brjóstakrabbamein, Clinical outcomes, Genotype, Obstetrics and Gynaecology, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], PROSTATE, Neoplasms, Glandular and Epithelial, skin and connective tissue diseases, RISK, Ovarian Neoplasms, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Obstetrics and Gynecology, WOMEN, female genital diseases and pregnancy complications, 3. Good health, medicine.anatomical_structure, Treatment Outcome, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Female, KRAS, medicine.medical_specialty, SUSCEPTIBILITY LOCI, Breast Neoplasms, Article, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Carcinoma, Humans, GENOME-WIDE ASSOCIATION, Genetic Association Studies, POLYMORPHISMS, Krabbamein, MICRORNA-BINDING-SITE, IDENTIFICATION, business.industry, ENDOMETRIOSIS, Arfgengi, medicine.disease, 030104 developmental biology, PTT12, Eggjastokkar, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d41cdfb01971a707db6a3e157e2635a6Test
https://hdl.handle.net/20.500.12530/28922Test

المؤلفون: Maria J. Soares, Mauricio Magalhaes Costa, Ingrid Petroni Ewald, Rachel Kyle, Nelly Sabbaghian, Torben A Kruse, Leonor Gusmão, Mads Thomassen, Silvia Casadei, Annemarie H. van der Hout, Marc Tischkowitz, Patrícia Rocha, Ana Vega, Miguel de la Hoya, Patricia Ashton-Prolla, Lone Sunde, Sara Gutiérrez-Enríquez, Dirce Maria Carraro, Conxi Lázaro, Philippe Maillet, Maroulio Pertesi, Cindy Benson, Pedro Pinto, Alberto Gulino, Nancy Uhrhammer, Drakoulis Yannoukakos, William D. Foulkes, Lucie Cornil, Etienne Rouleau, Ana Peixoto, Ignacio Blanco, Gaelle Benais-Pont, Robert Royer, Mary Claire King, Montserrat Baiget, Thangarajan Rajkumar, María Dolores Miramar, Ana Rodriguez Valle, Maria Teresa Calvo, Judith Balmaña, Anne-Marie Gerdes, Rosette Lidereau, Giuseppe Giannini, Catarina Santos, Eladio Velasco, Maria Isabel Achatz, Dorthe G. Crüger, Luisa Mota-Vieira, Carmen Alonso, Orland Diez, Eitan Friedman, Manuela Pinheiro, Brigitte Bressac-de Paillerets, Yael Laitman, Steven A. Narod, Teresa Ramón y Cajal, Begoña Graña, António Amorim, Trinidad Caldés, Lídia Feliubadaló, Mercedes Durán, Bruno Pardo, Erik Teugels, Audrey Remenieras, Manuel R. Teixeira, Yves-Jean Bignon, Ana Blanco

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Peixoto, A, Santos, C, Pinheiro, M, Pinto, P, Soares, M J, Rocha, P, Gusmão, L, Amorim, A, van der Hout, A, Gerdes, A-M, Thomassen, M, Kruse, T A, Cruger, D, Sunde, L E M, Bignon, Y-J, Uhrhammer, N, Cornil, L, Rouleau, E, Lidereau, R, Yannoukakos, D, Pertesi, M, Narod, S, Royer, R, Costa, M M, Lazaro, C, Feliubadaló, L, Graña, B, Blanco, I, de la Hoya, M, Caldés, T, Maillet, P, Benais-Pont, G, Pardo, B, Laitman, Y, Friedman, E, Velasco, E A, Durán, M, Miramar, M-D, Valle, A R, Calvo, M-T, Vega, A, Blanco, A, Diez, O, Gutiérrez-Enríquez, S, Balmaña, J, Ramon Y Cajal, T, Alonso, C, Baiget, M, Foulkes, W, Tischkowitz, M, Kyle, R, Sabbaghian, N, Ashton-Prolla, P, Ewald, I P, Rajkumar, T, Mota-Vieira, L, Giannini, G, Gulino, A, Achatz, M I, Carraro, D M, de Paillerets, B B, Remenieras, A, Benson, C, Casadei, S, King, M-C, Teugels, E & Teixeira, M R 2011, ' International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation ', Breast Cancer Research and Treatment, vol. 127, no. 3, pp. 671-9 . https://doi.org/10.1007/s10549-010-1036-3Test
Peixoto, A, Santos, C, Pinheiro, M, Pinto, P, Soares, M J, Rocha, P, Gusmão, L, Amorim, A, van der Hout, A, Gerdes, A-M, Thomassen, M, Kruse, T A, Cruger, D, Sunde, L, Bignon, Y-J, Uhrhammer, N, Cornil, L, Rouleau, E, Lidereau, R, Yannoukakos, D, Pertesi, M, Narod, S, Royer, R, Costa, M M, Lazaro, C, Feliubadaló, L, Graña, B, Blanco, I, de la Hoya, M, Caldés, T, Maillet, P, Benais-Pont, G, Pardo, B, Laitman, Y, Friedman, E, Velasco, E A, Durán, M, Miramar, M-D, Valle, A R, Calvo, M-T, Vega, A, Blanco, A, Diez, O, Gutiérrez-Enríquez, S, Balmaña, J, Ramon Y Cajal, T, Alonso, C, Baiget, M, Foulkes, W, Tischkowitz, M, Kyle, R, Sabbaghian, N, Ashton-Prolla, P, Ewald, I P, Rajkumar, T, Mota-Vieira, L, Giannini, G, Gulino, A, Achatz, M I, Carraro, D M, de Paillerets, B B, Remenieras, A, Benson, C, Casadei, S, King, M-C, Teugels, E & Teixeira, M R 2011, ' International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation ', Breast Cancer Research and Treatment, vol. 127, no. 3, pp. 671-9 . https://doi.org/10.1007/s10549-010-1036-3Test
Breast Cancer Research and Treatment, 127(3), 671-679. SPRINGER
BREAST CANCER RESEARCH AND TREATMENT
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

مصطلحات موضوعية: Proband, Reading Frames, Cancer Research, Genes, BRCA2, Polymerase Chain Reaction, DISEASE, 0302 clinical medicine, BREAST/OVARIAN CANCER FAMILIES, skin and connective tissue diseases, Predictive testing, Sequence Deletion, founder mutation, c.156_157insalu brca2 mutation, hereditary breast/ovarian cancer, age estimation, c.156-157insalu brca2 mutation, Ovarian Neoplasms, Genetics, 0303 health sciences, education.field_of_study, medicine.diagnostic_test, REARRANGEMENT, Founder Effect, 3. Good health, Oncology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), GENETIC-HETEROGENEITY, Female, Population, Breast Neoplasms, Polymorphism, Single Nucleotide, 03 medical and health sciences, Breast cancer, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Genetic Testing, RNA, Messenger, Founder mutation, education, 030304 developmental biology, Genetic testing, Portugal, business.industry, Haplotype, medicine.disease, Genetics, Population, Mutation, Age estimation, c.156_157insAlu BRCA2 mutation, business, Hereditary breast/ovarian cancer, Microsatellite Repeats, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f02e96ceaf1775d47c62e59d3f95ac1dTest
https://doi.org/10.1007/s10549-010-1036-3Test

المؤلفون: Esther Darder, Marga Nadal, Ignacio Blanco, Mireia Menéndez, Raquel Cuesta, Conxi Lázaro, Eva Tornero, Alex Teulé, Lídia Feliubadaló, Jesús del Valle, Rosa Miró, Gabriel Capellá, Joan Brunet

المصدر: Breast Cancer Research and Treatment. 122:733-743

مصطلحات موضوعية: Adult, Male, Cancer Research, Genes, BRCA2, Molecular Sequence Data, Genes, BRCA1, Breast Neoplasms, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Sequence Homology, Nucleic Acid, Gene duplication, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Multiplex ligation-dependent probe amplification, Gene, 030304 developmental biology, Genetic testing, Gene Rearrangement, Ovarian Neoplasms, Genetics, 0303 health sciences, Base Sequence, medicine.diagnostic_test, Genome, Human, Point mutation, Breakpoint, Gene rearrangement, Middle Aged, Pedigree, 3. Good health, Oncology, 030220 oncology & carcinogenesis, Female, Human genome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4887ac028905abcb304af11bf40a6c3dTest
https://doi.org/10.1007/s10549-009-0613-9Test

المؤلفون: Conxi Lázaro, Angel Izquierdo, Gabriel Capellá, Alex Teulé, Joan Brunet, Francisco Quiles, Jesús del Valle, Esther Darder, Juana Fernández-Rodríguez, Miguel Angel Pujana, Detlev Schindler, Lídia Feliubadaló, Mónica Salinas, Ignacio Blanco

المساهمون: Universitat de Barcelona

المصدر: BMC Cancer, Vol 12, Iss 1, p 84 (2012)
BMC Cancer
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: Male, Cancer Research, DNA Mutational Analysis, Genes, BRCA2, Genes, BRCA1, Mutation, Missense, Breast Neoplasms, Biology, medicine.disease_cause, lcsh:RC254-282, Càncer de mama, Recombinases, Breast cancer, Surgical oncology, Fanconi anemia, medicine, Genetics, Humans, Family, Genetic Predisposition to Disease, ddc:610, Càncer, skin and connective tissue diseases, Gene, Germ-Line Mutation, Cancer, Mutation, Exons, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Introns, Oncology, Mutation testing, Female, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecb42d7c57b6d35f0a9cb28239869951Test
http://www.biomedcentral.com/1471-2407/12/84Test