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المؤلفون: Öfverholm, Anna, Törngren, Therese, Rosén, Anna, Arver, Brita, Einbeigi, Zakaria, Haraldsson, Karin, Ståhlbom, Anne Kinhult, Kuchinskaya, Ekaterina, Lindblom, Annika, Melin, Beatrice, Paulsson-Karlsson, Ylva, Stenmark-Askmalm, Marie, Tham, Emma, von Wachenfeldt, Anna, Kvist, Anders, Borg, Åke, Ehrencrona, Hans
المصدر: BMC Cancer. 23:1-12
مصطلحات موضوعية: Humans, Female, BRCA1 Protein/genetics, BRCA2 Protein/genetics, Genetic Predisposition to Disease, Breast Neoplasms/diagnosis, Genetic Testing, Ovarian Neoplasms/diagnosis, Protein Serine-Threonine Kinases/genetics, Triple Negative Breast Neoplasms/genetics, Hereditary Breast and Ovarian Cancer Syndrome/diagnosis, Germ-Line Mutation, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology
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المؤلفون: Kast, Karin, van de Beek, Irma, Olah, Edith, Jakubowska, Anna, Singer, Christian F, Tan, Yen, Augustinsson, Annelie, Milne, Roger L, Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E, Mooij, Thea M, Antoniou, Antonis C, Engel, Christoph
المصدر: Breast cancer research : BCR. 25(1)
مصطلحات موضوعية: Adult, Female, Humans, Body Mass Index, Genes, BRCA2, BRCA1 Protein/genetics, Breast Neoplasms/epidemiology, BRCA2 Protein/genetics, Risk, Retrospective Studies, Weight Gain/genetics, Heterozygote, Genetic Predisposition to Disease, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology
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المؤلفون: Shona M. Kerr, Emma Cowan, Lucija Klaric, Christine Bell, Dawn O’Sullivan, David Buchanan, Joseph J. Grzymski, Cristopher V. van Hout, Gannie Tzoneva, Alan R. Shuldiner, James F. Wilson, Zosia Miedzybrodzka
المصدر: Kerr, S, Cowan, E, Klaric, L, Bell, C, O'Sullivan, D, Buchanan, D, Grzymski, J J, van Hout, C V, Tzoneva, G, Shuldiner, A R, Wilson, J F & Miedzybrodzka, Z 2023, ' Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians ', European Journal of Human Genetics, vol. 31, no. 5, pp. 588–595 . https://doi.org/10.1038/s41431-023-01297-w
مصطلحات موضوعية: Scotland/epidemiology, Breast Neoplasms/genetics, BRCA2 Protein/genetics, State Medicine, Gene Frequency, Haplotypes, Genetics, BRCA1 Protein/genetics, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Ovarian Neoplasms/epidemiology, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Lesley Fallowfield, Ivonne Solis-Trapala, Rachel Starkings, Shirley May, Lucy Matthews, Diana Eccles, D. Gareth Evans, Clare Turnbull, Gillian Crawford, Valerie Jenkins
المصدر: Fallowfield, L, Solis-Trapala, I, Starkings, R, May, S, Matthews, L, Eccles, D, Evans, D G, Turnbull, C, Crawford, G & Jenkins, V 2022, ' Talking about Risk, UncertaintieS of Testing IN Genetics (TRUSTING) : development and evaluation of an educational programme for healthcare professionals about BRCA1 & BRCA2 testing ', BJC, vol. 127, no. 6, pp. 1116-1122 . https://doi.org/10.1038/s41416-022-01871-x
مصطلحات موضوعية: BRCA2 Protein, Heterozygote, Cancer Research, BRCA1 Protein, Health Personnel, education, Breast Neoplasms/diagnosis, Breast Neoplasms, BRCA2 Protein/genetics, R1, Oncology, BRCA1 Protein/genetics, Humans, Family, Female, Genetic Predisposition to Disease, Genetic Testing, Delivery of Health Care
وصف الملف: text; application/pdf
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المؤلفون: Simon Grund Sørensen, Amruta Shrikhande, Gustav Alexander Poulsgaard, Mikkel Hovden Christensen, Johanna Bertl, Britt Elmedal Laursen, Eva R Hoffmann, Jakob Skou Pedersen
المصدر: Sørensen, S G, Shrikhande, A, Poulsgaard, G A, Christensen, M H, Bertl, J, Laursen, B E, Hoffmann, E R & Pedersen, J S 2023, ' Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns ', eLife, vol. 12 . https://doi.org/10.7554/eLife.81224
Sørensen, S G, Shrikhande, A, Poulsgaard, G A, Christensen, M H, Bertl, J, Laursen, B E, Hoffmann, E R & Pedersen, J S 2023, ' Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns ', eLife, vol. 12, e81224 . https://doi.org/10.7554/elife.81224مصطلحات موضوعية: Male, General Immunology and Microbiology, General Neuroscience, DNA Helicases/genetics, repair deficiency, personalised medicine, Transcription Factors/genetics, mutational signatures, General Medicine, DNA damage response, BRCA2 Protein/genetics, Neoplasms/genetics, DNA Repair-Deficiency Disorders, General Biochemistry, Genetics and Molecular Biology, Nuclear Proteins/genetics, DNA Repair/genetics, Mutation, Humans, BRCA1 Protein/genetics, predictive modelling
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8fdd0c0855124ac5e59edd15de56b8
https://pure.au.dk/portal/da/publications/pancancer-association-of-dna-repair-deficiencies-with-wholegenome-mutational-patterns(6d841269-ef5f-41e2-a050-6f671e6994dd).html -
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المؤلفون: Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen, Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., van Engelen, Klaartje, Wevers, Marijke R., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Véronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Rønlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., Walker, Logan C.
المساهمون: MUMC+: DA KG Lab Specialisten (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Institut Català de la Salut, [Hakkaart C, Pearson JF, Wiggins GAR] Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand. [Marquart L] QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. School of Public Health, University of Queensland, Brisbane, Australia. [Dennis J, Barnes DR] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [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. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Medicum, Research Programs Unit, Kristiina Aittomäki / Principal Investigator, HUSLAB, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, Pediatrics, Human genetics, Cancer Center Amsterdam, Faculteit Medische Wetenschappen/UMCG, Medical Oncology
المصدر: Hakkaart, C, Pearson, J F, Marquart, L, Dennis, J, Wiggins, G A R, Barnes, D R, Robinson, B A, Mace, P D, Aittomäki, K, Andrulis, I L, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Belhadj, S, Berger, L, Blok, M J, Boonen, S E, Borde, J, Bradbury, A R, Brunet, J, Buys, S S, Caligo, M A, Campbell, I, Chung, W K, Claes, K B M, GEMO Study Collaborators, EMBRACE Collaborators, Collonge-Rame, M A, Cook, J, Cosgrove, C, Couch, F J, Daly, M B, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, Y C, Domchek, S M, Donaldson, A, Eason, J, Easton, D F, Ehrencrona, H, Engel, C, Evans, D G, Faust, U, Hansen, T V O, SWE-BRCA Investigators, KConFab Investigators, HEBON Investigators, Lautrup, C & Pedersen, I S 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, 1061 . https://doi.org/10.1038/s42003-022-03978-6
Hakkaart, C, Pearson, J F, Marquart, L, Dennis, J, Wiggins, G A R, Barnes, D R, Robinson, B A, Mace, P D, Aittomäki, K, Andrulis, I L, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Belhadj, S, Berger, L, Blok, M J, Boonen, S E, Borde, J, Bradbury, A R, Brunet, J, Buys, S S, Caligo, M A, Campbell, I, Chung, W K, Claes, K B M, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, F J, Daly, M B, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, Y C, Domchek, S M, Donaldson, A, Eason, J, Easton, D F, Ehrencrona, H, Engel, C, Evans, D G, Faust, U, Feliubadaló, L, Fostira, F, Friedman, E, Frone, M, Frost, D, Garber, J, Gayther, S A, Gehrig, A, Gesta, P, Godwin, A K, Goldgar, D E, Greene, M H, Hahnen, E, Hake, C R, Hamann, U, Hansen, T V O, Hauke, J, Hentschel, J, Herold, N, Honisch, E, Hulick, P J, Imyanitov, E N, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, P A, Janavicius, R, John, E M, Joseph, V, Karlan, B Y, Kemp, Z, Kirk, J, Konstantopoulou, I, Koudijs, M, Kwong, A, Laitman, Y, Lalloo, F, Lasset, C, Lautrup, C, Lazaro, C, Legrand, C, Leslie, G, Lesueur, F, Mai, P L, Manoukian, S, Mari, V, Martens, J W M, McGuffog, L, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Moserle, L, Mouret-Fourme, E, Musgrave, H, Nambot, S, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Yie, J N Y, Nguyen-Dumont, T, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Osorio, A, Ott, C-E, Park, S K, Parsons, M T, Pedersen, I S, Peixoto, A, Perez-Segura, P, Peterlongo, P, Pocza, T, Radice, P, Ramser, J, Rantala, J, Rodriguez, G C, Rønlund, K, Rosenberg, E H, Rossing, M, Schmutzler, R K, Shah, P D, Sharif, S, Sharma, P, Side, L E, Simard, J, Singer, C F, Snape, K, Steinemann, D, Stoppa-Lyonnet, D, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Thull, D L, Tischkowitz, M, Toland, A E, Trainer, A H, Tripathi, V, Tung, N, van Engelen, K, van Rensburg, E J, Vega, A, Viel, A, Walker, L, Weitzel, J N, Wevers, M R, Chenevix-Trench, G, Spurdle, A B, Antoniou, A C, Walker, L C & GEMO Study Collaborators 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, no. 1, 1061, pp. 1061 . https://doi.org/10.1038/s42003-022-03978-6
Communications Biology, 5(1):1061. Nature Publishing Group
Hakkaart, C, Pearson, J F, Marquart, L, Dennis, J, Wiggins, G A R, Barnes, D R, Robinson, B A, Mace, P D, Aittomäki, K, Andrulis, I L, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Belhadj, S, Berger, L, Blok, M J, Boonen, S E, Borde, J, Bradbury, A R, Brunet, J, Buys, S S, Caligo, M A, Campbell, I, Chung, W K, Claes, K B M, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, F J, Daly, M B, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, Y C, Domchek, S M, Donaldson, A, Eason, J, Easton, D F, Ehrencrona, H, Engel, C, Evans, D G, Faust, U, Feliubadaló, L, Fostira, F, Hansen, T V O, Rossing, C M, GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, kConFab Investigators & HEBON Investigators 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, 1061 . https://doi.org/10.1038/s42003-022-03978-6
COMMUNICATIONS BIOLOGY
Scientia
GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, KConFab Investigators & HEBON Investigators 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, no. 1, pp. 1061 . https://doi.org/10.1038/s42003-022-03978-6
Communications biology, Berlin : Nature Portfolio, 2022, vol. 5, no. 1, art. no. 1061, p. [1-15]
Communications Biology, 5(1). Springer Nature
Communications biology, 5:1061. Nature Publishing Groupمصطلحات موضوعية: Estrogen-metabolizing enzymes, Heterozygote, DNA Copy Number Variations, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], Messenger, Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], Medicine (miscellaneous), Expression, Genetics and Molecular Biology, Breast Neoplasms, Breast Neoplasms/genetics, Genetic polymorphisms, Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Genomic Structural Variation::DNA Copy Number Variations [PHENOMENA AND PROCESSES], General Biochemistry, Genetics and Molecular Biology, Dna-adducts, Association, Mama - Càncer - Propensió, SDG 3 - Good Health and Well-being, Other subheadings::Other subheadings::/genetics [Other subheadings], Medicine and Health Sciences, Humans, Genetic Predisposition to Disease, Familial breast, RNA, Messenger, fenómenos genéticos::variación genética::polimorfismo genético::variación estructural genómica::variaciones del número de copias de ADN [FENÓMENOS Y PROCESOS], fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], BRCA2 Protein, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Otros calificadores::Otros calificadores::/genética [Otros calificadores], BRCA1 Protein, Isoform 1a1 sult1a1, Sulfotransferase, BRCA2 Protein/genetics, Genòmica, Ovarian, General Biochemistry, Mama - Càncer - Aspectes genètics, RNA, BRCA1 Protein/genetics, Female, 3111 Biomedicine, General Agricultural and Biological Sciences, Brca1
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المؤلفون: Lakeman, Inge M. M., Van Den Broek, Alexandra J., Vos, Juliën A. M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Giraud, Sophie, Golmard, Lisa, Hake, Christopher R., Houdayer, Claude, Risch, Harvey A., Lasset, Christine, Laurent, Maïté, Spurdle, Amanda B., Hooning, Maartje J., Hopper, John L., Kets, Carolien M., Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Blok, Marinus J., Prieur, Fabienne, Hamann, Ute, Pujol, Pascal, Konstantopoulou, Irene, Heemskerk Gerritsen, Bernadette A. M., Isaacs, Claudine, Saule, Claire, Piedmonte, Marion, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Gómez Garcia, Encarna B., Venat Bouvet, Laurence, Claes, Kathleen B. M., Ahmed, Munaza, Teixeira, Manuel R., Barwell, Julian, Brady, Angela, Izatt, Louise, Hogervorst, Frans B. L., Brennan, Paul, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kwong, Ava, Borg, Ake, Kennedy, M. John, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Jakubowska, Anna, Couch, Fergus J., Hahnen, Eric, Daly, Mary B., Dennis, Joe, Teo, Soo Hwang, Jensen, Uffe Birk, Rantala, Johanna, Dhawan, Mallika, Benitez, Javier, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Legrand, Clémentine, Evans, D. Gareth, James, Paul A., Feliubadaló i Elorza, Maria Lídia, Teulé-Vega, Àlex, Foretova, Lenka, Castera, Laurent, Friedman, Eitan, Frost, Debra, Rennert, Gad, Ganz, Patricia A., Leslie, Goska, Garber, Judy, Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Thomassen, Mads, Janavicius, Ramunas, Mulligan, Anna Marie, Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Cook, Jackie, Koudijs, Marco, Kriege, Mieke, Meijers Heijboer, Hanne E. J., Schmutzler, Rita K., Mensenkamp, Arjen R., Dunning, Alison M., Mooij, Thea M., Oosterwijk, Jan C., Caux Moncoutier, Virginie, Singer, Christian F., Berthet, Pascaline, Caldés, Trinidad, Van den Ouweland, Ans M. W., Van der Baan, Frederieke H., Van der Hout, Annemieke H., Van der Kolk, Lizet E., Van der Luijt, Rob B., Thull, Darcy L., Van Deurzen, Carolien H. M., Sharma, Priyanka, Van Doorn, Helena C., Bignon, Yves Jean, Colas, Chrystelle, Van Engelen, Klaartje, Brewer, Carole, Van Hest, Liselotte P., Van Os, Theo A. M., Caligo, Maria A., Verhoef, Senno, Tischkowitz, Marc, Vogel, Maartje J., Wijnen, Juul T., Lalloo, Fiona, Beesley, Jonathan, Fox, Stephen, Collonge Rame, Marie Agnès, Simard, Jacques, Holland, Helene, Jiao, Yue, John, Esther M., Joseph, Vijai, Gerdes, Anne Marie, Karlan, Beth Y., Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, Mcguffog, Lesley, Miller, Austin, Coupier, Isabelle, Gomes, Denise Molina, Barouk Simonet, Emmanuelle, Montagna, Marco, Miller, Clare, Elan, Camille, Davidson, Rosemarie, Mouret Fourme, Emmanuelle, Gayther, Simon A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Pauw, Antoine de, Olah, Edith, Morrison, Patrick J., Olopade, Olufunmilayo I., Van Asperen, Christi J., Park, Sue K., Parsons, Michael T., Donaldson, Alan, Belotti, Muriel, Peterlongo, Paolo, Stadler, Zsofia, Stoppa Lyonnet, Dominique, Sutter, Christian, Ong, Kai Ren, Delnatte, Capucine, Tan, Yen Yen, Toland, Amanda E., Tung, Nadine, Van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Eason, Jacqueline, Chung, Wendy K., Bernstein, Jonine L., Offit, Kenneth, Aalfs, Cora M., Hanson, Helen, Godwin, Andrew K., Easton, Douglas F., Bonadona, Valérie, Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., O’shaughnessy Kirwan, Aoife, Robson, Mark, Eccles, Diana M., Schmidt, Marjanka K., Adank, Muriel A., Gemo Study Collaborators, Phillips, Kelly Anne, Embrace Collaborators, Ocgn Investigators, Goldgar, David E., Hebon Investigators, Perkins, Jo, Kconfab Investigators, Bressac de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Ausems, Margreet G. E. M., Gregory, Helen, Caron, Olivier, Faivre, Laurence, Fert Ferrer, Sandra, Gauthier Villars, Marion, Radice, Paolo, Gesta, Paul
المساهمون: Clinical Genetics, Medical Oncology, Surgery, Pathology, Gynecological Oncology, Schmidt, Marjanka K. [0000-0002-2228-429X], Apollo - University of Cambridge Repository, Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Schmidt, Marjanka K [0000-0002-2228-429X], HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Lakeman IMM] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [van den Broek AJ, Vos JAM] Division of Molecular Pathology, The Netherlands Cancer Institute–Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. [Barnes DR] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Adlard J] Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK. [Andrulis IL] Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. [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, Vall d'Hebron Barcelona Hospital Campus, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Human Genetics, ARD - Amsterdam Reproduction and Development, APH - Personalized Medicine, APH - Quality of Care, Chapel Allerton Hospital, University of Leeds, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto-Cancer Care Ontario, Reykjavík University, Division of Oncology, Department of Gynaecology and Obstetrics, University Hospital Schleswig–Holstein, The University of Texas M.D. Anderson Cancer Center [Houston], Unitat d'Alt Risc i Prevenció del Càncer, Vall d'Hebron University Hospital [Barcelona], University of Cambridge [UK] (CAM), Group of Human Genetics, Human Cancer Genetics Programme, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Department of Oncology, Clinical Sciences, Lund University [Lund]-Skåne University Hospital, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Section of Genetic Oncology, University of Pisa - Università di Pisa, Columbia University [New York], Ghent University Hospital, Department of Clinical Genetics, Erasmus University Medical Center [Rotterdam] (Erasmus MC)-Family Cancer Clinic, Department of Laboratory Medicine and Pathology, Mayo Clinic, Division of Population Science, Fox Chase Cancer Center, Institut Curie [Paris], Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL), CHU Grenoble, CHI Poissy-Saint-Germain, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), Klinische Genetica
المصدر: GENETICS IN MEDICINE
Genetics in Medicine, 23(9), 1726-1737. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 1726-1737
Genetics in Medicine, 23(9), 1726-1737. Nature Publishing Group
Genetics in Medicine, 23, 9, pp. 1726-1737
Lakeman, IMM, van, D B AJ, Vos, JAM, Barnes, DR, Adlard, J, Andrulis, IL, Arason, A, Arnold, N, Arun, BK, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Schmidt, MK & Evans, D G 2021, ' The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Lakeman, I M M, van den Broek, A J, Vos, J A M, Barnes, D R, Adlard, J, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Caldés, T, Caligo, M A, Chung, W K, Claes, K B M, Barouk-Simonet, E, Belotti, M, Berthet, P, Bignon, Y J, Bonadona, V, Bressac-de Paillerets, B, Buecher, B, Caputo, S, Caron, O, Castera, L, Caux-Moncoutier, V, Colas, C, Collonge-Rame, M A, Coupier, I, de Pauw, A, Delnatte, C, Elan, C, Faivre, L, Ferrer, S F, Gauthier-Villars, M, Gesta, P, Giraud, S, Golmard, L, Houdayer, C, Lasset, C, Laurent, M, Leroux, D, Longy, M, Mari, V, Mazoyer, S, Mebirouk, N, Mortemousque, I, Jensen, U B, GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & KConFab Investigators 2021, ' The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Genetics in Medicine, 23(9), 1726-1737. SPRINGERNATURE
Dipòsit Digital de la UB
Universidad de Barcelona
HEBON Investigators, KConFab Investigators, GEMO Study Collaborators, EMBRACE Collaborators & OCGN Investigators 2021, ' The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Scientia
Genetics in Medicine
Genetics in Medicine, 23(9), 1726-1737. Lippincott Williams and Wilkins
Genetics in medicine, 23(9), 1726-1737. Lippincott Williams and Wilkins
GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & kConFab Investigators 2021, ' The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7
Genetics in Medicine, 2021, 23 (9), pp.1726-1737. ⟨10.1038/s41436-021-01198-7⟩
Lakeman, I M M, van den Broek, A J, Vos, J A M, Barnes, D R, Adlard, J, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Balmaña, J, Barrowdale, D, Benitez, J, Borg, A, Caldés, T, Caligo, M A, Chung, W K, Claes, K B M, Barouk-Simonet, E, Belotti, M, Berthet, P, Bignon, Y J, Bonadona, V, Bressac-de Paillerets, B, Buecher, B, Caputo, S, Caron, O, Castera, L, Caux-Moncoutier, V, Colas, C, Collonge-Rame, M A, Coupier, I, de Pauw, A, Delnatte, C, Elan, C, Faivre, L, Ferrer, S F, Gauthier-Villars, M, Gesta, P, Giraud, S, Golmard, L, Houdayer, C, Lasset, C, Laurent, M, Leroux, D, Longy, M, Mari, V, Mazoyer, S, Mebirouk, N, Gerdes, A M, Jensen, U B, Thomassen, M, GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & kConFab Investigators 2021, ' The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant ', Genetics in Medicine, vol. 23, no. 9, pp. 1726-1737 . https://doi.org/10.1038/s41436-021-01198-7مصطلحات موضوعية: 0301 basic medicine, Percentile, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease [DISEASES], Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], SUSCEPTIBILITY ALLELES, Diàtesi, FAMILIES, Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], MESH: BRCA2 Protein, Breast cancer, 0302 clinical medicine, MESH: Risk Factors, Risk Factors, Other subheadings::/diagnosis [Other subheadings], Medicine and Health Sciences, Medicine, Mama - Càncer - Diagnòstic, Family history, skin and connective tissue diseases, Genetics (clinical), MESH: Heterozygote, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Factors de risc en les malalties, BRCA1 Protein, Hazard ratio, MESH: Genetic Predisposition to Disease, 1184 Genetics, developmental biology, physiology, article, OVARIAN, BRCA2 Protein/genetics, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], 3. Good health, 030220 oncology & carcinogenesis, Female, Malalties congènites, Adult, Heterozygote, medicine.medical_specialty, MESH: Mutation, Risk factors in diseases, Otros calificadores::/diagnóstico [Otros calificadores], Breast Neoplasms, Context (language use), MUTATION CARRIERS, Càncer de mama, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad [ENFERMEDADES], 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, Humans, Genetic Predisposition to Disease, MESH: BRCA1 Protein, Retrospective Studies, BRCA2 Protein, MESH: Humans, business.industry, Proportional hazards model, CONSORTIUM, Breast Neoplasms/diagnosis, MESH: Adult, MESH: Retrospective Studies, Retrospective cohort study, medicine.disease, Confidence interval, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, BRCA1 Protein/genetics, 3111 Biomedicine, business, MESH: Female, MESH: Breast Neoplasms
وصف الملف: application/pdf; application/zip; text/xml; text
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المؤلفون: Nicola Flaum, Emma J. Crosbie, Richard Edmondson, Emma R. Woodward, Fiona Lalloo, Miriam J. Smith, Helene Schlecht, D. Gareth Evans
المصدر: Flaum, N, Crosbie, E J, Edmondson, R, Woodward, E R, Lalloo, F, Smith, M J, Schlecht, H & Evans, D G 2022, ' High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer ', Genetics in Medicine, vol. 24, no. 12, pp. 2578-2586 . https://doi.org/10.1016/j.gim.2022.08.022
Flaum, N, Crosbie, E J, Edmondson, R, Woodward, E R, Lalloo, F, Smith, M J, Schlecht, H & Evans, D G 2022, ' High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 12, pp. 2578-2586 . https://doi.org/10.1016/j.gim.2022.08.022مصطلحات موضوعية: Male, BRCA2 Protein, Ovarian Neoplasms, Ovarian Neoplasms/diagnosis, Manchester Cancer Research Centre, BRCA1 Protein, ResearchInstitutes_Networks_Beacons/mcrc, Genes, BRCA2, Carcinoma, Ovarian Epithelial, BRCA2 Protein/genetics, Carcinoma, Ovarian Epithelial/genetics, Exome Sequencing, BRCA1 Protein/genetics, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b2b68712b95d6ac7121c4d44f512146
https://pubmed.ncbi.nlm.nih.gov/36169650 -
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المؤلفون: Emma V. Jones, Joon Rhee, Jérôme Alexandre, Zhongwu Lai, L Opincar, Matthew G Krebs, Yeon Hee Park, Jean Pierre Delord, Antoine Italiano, Anna M. L. Coenen-Stass, Seock-Ah Im, Sara Bastian, Sophie Postel-Vinay, Sakshi Gulati, Susan M. Domchek, Ding Wang, Saiama N. Waqar, Haiyan Gao, Benoit You, P. Herbolsheimer, M. Lanasa, Helen K. Angell, Iwanka Kozarewa, Vidalba Rocher-Ros, Bella Kaufman
المصدر: Domchek, S M, Postel-Vinay, S, Im, S-A, Park, Y H, Delord, J-P, Italiano, A, Alexandre, J, You, B, Bastian, S, Krebs, M G, Wang, D, Waqar, S N, Lanasa, M, Rhee, J, Gao, H, Rocher-Ros, V, Jones, E V, Gulati, S, Coenen-Stass, A, Kozarewa, I, Lai, Z, Angell, H K, Opincar, L, Herbolsheimer, P & Kaufman, B 2020, ' Olaparib and durvalumab in patients with germline BRCA-mutated metastatic breast cancer (MEDIOLA) : an open-label, multicentre, phase 1/2, basket study ', The Lancet. Oncology, vol. 21, no. 9, pp. 1155-1164 . https://doi.org/10.1016/S1470-2045(20)30324-7
مصطلحات موضوعية: 0301 basic medicine, Oncology, Durvalumab, Germ-Line Mutation/genetics, B7-H1 Antigen, Piperazines, chemistry.chemical_compound, 0302 clinical medicine, Medicine, Neoplasm Metastasis, Phthalazines/administration & dosage, Manchester Cancer Research Centre, BRCA1 Protein, Antibodies, Monoclonal, Middle Aged, BRCA2 Protein/genetics, Metastatic breast cancer, Neoplasm Recurrence, Local/drug therapy, Tolerability, 030220 oncology & carcinogenesis, Female, Adult, medicine.medical_specialty, Adolescent, B7-H1 Antigen/antagonists & inhibitors, Breast Neoplasms, Antibodies, Monoclonal/administration & dosage, Olaparib, Young Adult, 03 medical and health sciences, Breast cancer, Breast Neoplasms/drug therapy, Internal medicine, Humans, Lung cancer, Adverse effect, Germ-Line Mutation, Aged, BRCA2 Protein, business.industry, ResearchInstitutes_Networks_Beacons/mcrc, Piperazines/administration & dosage, medicine.disease, Clinical trial, 030104 developmental biology, chemistry, BRCA1 Protein/genetics, Phthalazines, Neoplasm Recurrence, Local, business
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
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المؤلفون: Harry Begthel, Johan H. van Es, Hans Clevers, Oded Kopper, Celien P.H. Vreuls, Kadi Lõhmussaar, Jeroen Korving
المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Nature Communications
Nature Communications, 11(1). Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, endocrine system diseases, General Physics and Astronomy, Organ Culture Techniques/methods, Epithelium, Mice, 0302 clinical medicine, CRISPR-Associated Protein 9, lcsh:Science, Gene Editing/methods, Gene Editing, Ovarian Neoplasms, Multidisciplinary, biology, BRCA1 Protein, Fallopian Tubes/pathology, CRISPR-Cas Systems/genetics, Ovarian Neoplasms/drug therapy, PTEN Phosphohydrolase/genetics, female genital diseases and pregnancy complications, Organoids, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Oviduct, Tumor Suppressor Protein p53/genetics, Female, Antineoplastic Agents/pharmacology, Epithelium/pathology, Organoids/drug effects, endocrine system, Neurofibromatosis 1, Science, Antineoplastic Agents, General Biochemistry, Genetics and Molecular Biology, Neurofibromatosis 1/genetics, Article, 03 medical and health sciences, Organ Culture Techniques, Ovarian cancer, medicine, Organoid, PTEN, Animals, Cancer models, Fallopian Tubes, Ovary, PTEN Phosphohydrolase, Cancer, General Chemistry, medicine.disease, Transplantation, 030104 developmental biology, Tumor progression, Mutation, Genetic engineering, biology.protein, Cancer research, BRCA1 Protein/genetics, lcsh:Q, Ovary/pathology, CRISPR-Cas Systems, Tumor Suppressor Protein p53, Fallopian tube
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