المؤلفون: Lakeman, Inge MM, van den Broek, Alexandra J, Vos, Juliën AM, Barnes, Daniel R, Adlard, Julian, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Arun, Banu K, Balmaña, Judith, Barrowdale, Daniel, Benitez, Javier, Borg, Ake, Caldés, Trinidad, Caligo, Maria A, Chung, Wendy K, Claes, Kathleen BM, GEMO Study Collaborators, EMBRACE Collaborators, Collée, J Margriet, Couch, Fergus J, Daly, Mary B, Dennis, Joe, Dhawan, Mallika, Domchek, Susan M, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Gayther, Simon A, Gerdes, Anne-Marie, Godwin, Andrew K, Goldgar, David E, Hahnen, Eric, Hake, Christopher R, Hamann, Ute, Hogervorst, Frans BL, Hooning, Maartje J, Hopper, John L, Hulick, Peter J, Imyanitov, Evgeny N, OCGN Investigators, HEBON Investigators, KconFab Investigators, Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, Jensen, Uffe Birk, Jiao, Yue, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kets, Carolien M, Konstantopoulou, Irene, Kwong, Ava, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Loud, Jennifer T, Lubiński, Jan, Manoukian, Siranoush, McGuffog, Lesley, Miller, Austin, Gomes, Denise Molina, Montagna, Marco, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Olah, Edith, Olopade, Olufunmilayo I, Park, Sue K, Parsons, Michael T, Peterlongo, Paolo, Piedmonte, Marion, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A, Schmutzler, Rita K, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R, Teo, Soo Hwang, Teulé, Alex, Thomassen, Mads, Thull, Darcy L

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(9)

مصطلحات موضوعية: GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators, KconFab Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Risk Factors, Retrospective Studies, Heterozygote, Mutation, Adult, Female, Prevention, Cancer, Aging, Breast Cancer, 2.1 Biological and endogenous factors, Genetics & Heredity, Genetics, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9c71h04qTest

المؤلفون: Barnes, Daniel R, Rookus, Matti A, McGuffog, Lesley, Leslie, Goska, Mooij, Thea M, Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L, Arnold, Norbert, Arun, Banu K, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M, Blok, Marinus J, Bonanni, Bernardo, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Bradbury, Angela R, Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K, Claes, Kathleen BM, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Cook, Jackie, Daly, Mary B, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Dorfling, Cecilia M, Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans BL, Hooning, Maartje J, Horvath, Judit, Hu, Chunling, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kast, Karin, Koudijs, Marco, Kruse, Torben A, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi

المصدر: Genetics in Medicine. 22(10)

مصطلحات موضوعية: Clinical Research, Cancer, Ovarian Cancer, Prevention, Rare Diseases, Breast Cancer, 2.1 Biological and endogenous factors, Aetiology, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Carcinoma, Ovarian Epithelial, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Mutation, Ovarian Neoplasms, Prospective Studies, Retrospective Studies, Risk Factors, BRCA1, 2, breast cancer, ovarian cancer, PRS, genetics, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, GENEPSO Investigators, Consortium of Investigators of Modifiers of BRCA and BRCA2, BRCA1/2, Genetics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1x8019t9Test

المؤلفون: Kast, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, V. ronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C.

المصدر: Kast , K , John , E M , Hopper , J L , Andrieu , N , Noguès , C , Mouret-Fourme , E , Lasset , C , Fricker , J-P , Berthet , P , Mari , V R , Salle , L , Schmidt , M K , Ausems , M G E M , Garcia , E B G , van de Beek , I , Wevers , M R , Evans , D G , Tischkowitz , M , Lalloo , F , Cook , J , Izatt , L , Tripathi , ....

العلاقة: https://research.vumc.nl/en/publications/278c3f3f-d581-445e-ba7d-5066fc4b6e08Test

الإتاحة: https://doi.org/10.1186/s13058-023-01673-wTest
https://research.vumc.nl/en/publications/278c3f3f-d581-445e-ba7d-5066fc4b6e08Test
http://www.scopus.com/inward/record.url?scp=85162932832&partnerID=8YFLogxKTest

المؤلفون: Muranen, Taru A., Morra, Anna, Khan, Sofia, Barnes, Daniel R., Bolla, Manjeet K., Dennis, Joe G., Keeman, Renske, Leslie, Goska, Parsons, Michael T., Wang, Qin, Ahearn, Thomas U., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Behrens, Sabine, Bialkowska, Katarzyna, Bojesen, Stig Egil, Camp, Nicola Jane, Chang-Claude, Jenny C., Czene, Kamila, Devilee, Peter P., Domchek, Susan M., Dunning, Alison M., Engel, Christoph, Evans, D. Gareth R., Gago-Dominguez, Manuela, García-Closas, Montserrat, Gerdes, Anne Marie Axø, Glendon, Gord, Guénel, Pascal, Hahnen, Eric T., Hamann, Ute, Hanson, Helen L., Hooning, Maartje Joanneke, Hoppe, Reiner, Izatt, Louise, Jakubowska, Anna, James, Paul A., Kristensen, Vessela N., Lalloo, Fiona I., Lindeman, Geoffrey J., Mannermaa, Arto Msci, Margolin, Sara J., Neuhausen, Giuseppe L., Newman, William G., Peterlongo, Paolo, Phillips, Kelly Anne, Pujana, Miguel Ángel G., Rantala, Johanna, Rønlund, Karina, Saloustros, Emmanouil, Schmutzler, Rita Katharina, Schneeweiss, Andreas, Singer, Christian Fridolin, Suvanto, Maija T., Tan, Yen Y., Teixeira, Manuel Rodrigues, Thomassen, Mads Christella L.G.D., Tischkowitz, Marc D., Tripathi, Vishakha, Wappenschmidt, Barbara, Zhao, Emily, Easton, Douglas F., Antoniou, Antonis C., Chenevix-Trench, Georgia, Pharoah, Paul D.P., Schmidt, Marjanka K., Blomqvist, Carl P., Nevanlinna, Heli A.

المساهمون: Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, European Union Horizon 2020 research and innovation program BRIDGES, Helsinki University Hospital Research Fund, Ministère de l’Économie et de Innovation du Québec, National Institutes of Health, NIH, National Cancer Institute, NCI, Genome Canada, GC, Wellcome Trust, WT, (v203477/Z/16/Z), Génome Québec, GQ, Fondation du cancer du sein du Québec, FCSQ, Government of Canada, Canadian Institutes of Health Research, IRSC, Sigrid Juséliuksen Säätiö, Horizon 2020, (634935), Syöpäsäätiö, European Project: 634935,H2020,H2020-PHC-2014-two-stage,BRIDGES(2015)

المصدر: ISSN: 2374-4677 ; npj Breast Cancer ; https://hal.science/hal-04190871Test ; npj Breast Cancer, 2023, 9 (1), ⟨10.1038/s41523-023-00546-x⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/grantAgreement//634935/EU/Breast Cancer Risk after Diagnostic Gene Sequencing (BRIDGES)/BRIDGES; hal-04190871; https://hal.science/hal-04190871Test; https://hal.science/hal-04190871/documentTest; https://hal.science/hal-04190871/file/s41523-023-00546-x.pdfTest

الإتاحة: https://doi.org/10.1038/s41523-023-00546-xTest
https://hal.science/hal-04190871Test
https://hal.science/hal-04190871/documentTest
https://hal.science/hal-04190871/file/s41523-023-00546-x.pdfTest

المؤلفون: Kast, Karin, John, Esther M, Hopper, John L, Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K, Ausems, Margreet GEM, Garcia, Encarnacion B Gomez, van de Beek, Irma, Wevers, Marijke R, Evans, D Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, EMBRACE Collaborators, Colonna, Sarah V, Andrulis, Irene L, Daly, Mary B, Southey, Melissa C, de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F, Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K, Milne, Roger L, Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E, Mooij, Thea M, Antoniou, Antonis C, Easton, Douglas F, Rookus, Matti A, Engel, Christoph

مصطلحات موضوعية: Adult, Female, Humans, Body Mass Index, Genes, BRCA2, BRCA1 Protein, Breast Neoplasms, BRCA2 Protein, Risk, Retrospective Studies, Weight Gain, Heterozygote, Genetic Predisposition to Disease

وصف الملف: text/xml; application/pdf; application/zip

العلاقة: https://www.repository.cam.ac.uk/handle/1810/353817Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/353817Test

المؤلفون: Muranen, Taru A, Morra, Anna, Khan, Sofia, Barnes, Daniel R, Bolla, Manjeet K, Dennis, Joe, Keeman, Renske, Leslie, Goska, Parsons, Michael T, Wang, Qin, Ahearn, Thomas U, Aittomäki, Kristiina, Andrulis, Irene L, Arun, Banu K, Behrens, Sabine, Bialkowska, Katarzyna, Bojesen, Stig E, Camp, Nicola J, Chang-Claude, Jenny, Czene, Kamila, Devilee, Peter, HEBON investigators, Domchek, Susan M, Dunning, Alison M, Engel, Christoph, Evans, D Gareth, Gago-Dominguez, Manuela, García-Closas, Montserrat, Gerdes, Anne-Marie, Glendon, Gord, Guénel, Pascal, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hooning, Maartje J, Hoppe, Reiner, Izatt, Louise, Jakubowska, Anna, James, Paul A, Kristensen, Vessela N, Lalloo, Fiona, Lindeman, Geoffrey J, Mannermaa, Arto, Margolin, Sara, Neuhausen, Susan L, Newman, William G, Peterlongo, Paolo, Phillips, Kelly-Anne, Pujana, Miquel Angel, Rantala, Johanna, Rønlund, Karina, Saloustros, Emmanouil, Schmutzler, Rita K, Schneeweiss, Andreas, Singer, Christian F, Suvanto, Maija, Tan, Yen Yen, Teixeira, Manuel R, Thomassen, Mads, Tischkowitz, Marc, Tripathi, Vishakha, Wappenschmidt, Barbara, Zhao, Emily, Easton, Douglas F, Antoniou, Antonis C, Chenevix-Trench, Georgia, Pharoah, Paul DP, Schmidt, Marjanka K, Blomqvist, Carl, Nevanlinna, Heli

مصطلحات موضوعية: HEBON investigators

وصف الملف: application/pdf; text/xml

العلاقة: https://www.repository.cam.ac.uk/handle/1810/349851Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/349851Test

المؤلفون: Byrjalsen, Anna, Stoltze, Ulrik, Mehrjouy, Mana, Frederiksen, Jane Hübertz, Bak, Mads, Birkedal, Ulf, Hasle, Henrik, Gerdes, Anne Marie, Schmiegelow, Kjeld, Wadt, Karin, Hansen, Thomas van Overeem

المصدر: Byrjalsen , A , Stoltze , U , Mehrjouy , M , Frederiksen , J H , Bak , M , Birkedal , U , Hasle , H , Gerdes , A M , Schmiegelow , K , Wadt , K & Hansen , T V O 2023 , ' The effect of a single SMARCA4 exon deletion on RNA splicing : Implications for variant classification ' , Molecular Genetics and Genomic Medicine , vol. 11 , no. 10 , e2232 . https://doi.org/10.1002/mgg3.2232Test

مصطلحات موضوعية: de novo, single-exon deletion, small cell carcinoma of the ovary, SMARCA4, splicing, variant classification

العلاقة: https://pure.au.dk/portal/en/publications/7867f671-3933-4d83-a7ed-51ec95fbcd8aTest

الإتاحة: https://doi.org/10.1002/mgg3.2232Test
https://pure.au.dk/portal/en/publications/7867f671-3933-4d83-a7ed-51ec95fbcd8aTest
http://www.scopus.com/inward/record.url?scp=85164669930&partnerID=8YFLogxKTest

المؤلفون: Andersen, Lars V B, Larsen, Martin J, Davies, Helen, Degasperi, Andrea, Nielsen, Henriette Roed, Jensen, Louise A, Kroeldrup, Lone, Gerdes, Anne-Marie, Lænkholm, Anne-Vibeke, Kruse, Torben A, Nik-Zainal, Serena, Thomassen, Mads

المصدر: Andersen , L V B , Larsen , M J , Davies , H , Degasperi , A , Nielsen , H R , Jensen , L A , Kroeldrup , L , Gerdes , A-M , Lænkholm , A-V , Kruse , T A , Nik-Zainal , S & Thomassen , M 2023 , ' Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness ' , Breast Cancer Research , vol. 25 , 69 . https://doi.org/10.1186/s13058-023-01655-yTest

مصطلحات موضوعية: Humans, Female, Genes, BRCA2, Breast Neoplasms/epidemiology, Prevalence, Mutation, BRCA2 Protein/genetics, Whole genome sequencing, Breast cancer, Hereditary breast cancer, BRCAness, HRDetect, Non-BRCA1/BRCA2, Mutational signatures

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/e42eae56-b6d8-4d54-9906-771fdf50a082Test

الإتاحة: https://doi.org/10.1186/s13058-023-01655-yTest
https://portal.findresearcher.sdu.dk/da/publications/e42eae56-b6d8-4d54-9906-771fdf50a082Test
https://findresearcher.sdu.dk/ws/files/233416755/s13058_023_01655_y.pdfTest

المؤلفون: Stoltze, Ulrik Kristoffer, Hagen, Christian Munch, van Overeem Hansen, Thomas, Byrjalsen, Anna, Gerdes, Anne Marie, Yakimov, Victor, Rasmussen, Simon, Bækvad-Hansen, Marie, Hougaard, David Michael, Schmiegelow, Kjeld, Hjalgrim, Henrik, Wadt, Karin, Bybjerg-Grauholm, Jonas

المصدر: Stoltze , U K , Hagen , C M , van Overeem Hansen , T , Byrjalsen , A , Gerdes , A M , Yakimov , V , Rasmussen , S , Bækvad-Hansen , M , Hougaard , D M , Schmiegelow , K , Hjalgrim , H , Wadt , K & Bybjerg-Grauholm , J 2023 , ' Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants ' , Genome Medicine , vol. 15 , 17 . https://doi.org/10.1186/s13073-023-01167-6Test

مصطلحات موضوعية: Cancer predisposition, Frugal science, Genomics, Germline, Health care economics, Neonatal, Pediatrics, Population, Rare disease, Screening

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1186/s13073-023-01167-6Test
https://curis.ku.dk/portal/da/publications/combinatorial-batching-of-dna-for-ultralowcost-detection-of-pathogenic-variantsTest(b61fa0cd-1a57-40a4-8c7a-1af7077dde5a).html
https://curis.ku.dk/ws/files/341019226/s13073_023_01167_6.pdfTest

المؤلفون: Jensen, Marlene Richter, Jelsig, Anne Marie, Gerdes, Anne Marie, Hölmich, Lisbet Rosenkrantz, Kainu, Kati Hannele, Lorentzen, Henrik Frank, Hansen, Mary Højgaard, Bak, Mads, Johansson, Peter A., Hayward, Nicholas K., Van Overeem Hansen, Thomas, Wadt, Karin A.W.

المصدر: Jensen , M R , Jelsig , A M , Gerdes , A M , Hölmich , L R , Kainu , K H , Lorentzen , H F , Hansen , M H , Bak , M , Johansson , P A , Hayward , N K , Van Overeem Hansen , T & Wadt , K A W 2023 , ' TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma ' , Human Genetics and Genomics Advances , vol. 4 , no. 4 , 100225 . https://doi.org/10.1016/j.xhgg.2023.100225Test

مصطلحات موضوعية: germline TINF2, long telomeres, multiple primary melanoma

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.xhgg.2023.100225Test
https://curis.ku.dk/portal/da/publications/tinf2-is-a-major-susceptibility-gene-in-danish-patients-with-multiple-primary-melanomaTest(2933d593-f5bc-4f24-bec9-db094d35045b).html
https://curis.ku.dk/ws/files/375726661/1_s2.0_S266624772300057X_main.pdfTest