المؤلفون: Spier, Isabel, Yin, Xiaoyu, Richardson, Marcy, Pineda, Marta, Laner, Andreas, Ritter, Deborah, Boyle, Julie, Mur, Pilar, Hansen, Thomas v O., Shi, Xuemei, Mahmood, Khalid, Plazzer, John-Paul, Ognedal, Elisabet, Nordling, Margareta, Farrington, Susan M., Yamamoto, Gou, Baert-Desurmont, Stéphanie, Martins, Alexandra, Borras, Ester, Tops, Carli, Webb, Erica, Beshay, Victoria, Genuardi, Maurizio, Pesaran, Tina, Capellá, Gabriel, Tavtigian, Sean V., Latchford, Andrew, Frayling, Ian M., Plon, Sharon E., Greenblatt, Marc, Macrae, Finlay A., Aretz, Stefan

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/166142/1/Gene-specific%20ACMG%20AMP%20classification%20criteria.pdfTest; Spier, Isabel, Yin, Xiaoyu, Richardson, Marcy, Pineda, Marta, Laner, Andreas, Ritter, Deborah, Boyle, Julie, Mur, Pilar, Hansen, Thomas v O., Shi, Xuemei, Mahmood, Khalid, Plazzer, John-Paul, Ognedal, Elisabet, Nordling, Margareta, Farrington, Susan M., Yamamoto, Gou, Baert-Desurmont, Stéphanie, Martins, Alexandra, Borras, Ester, Tops, Carli, Webb, Erica, Beshay, Victoria, Genuardi, Maurizio, Pesaran, Tina, Capellá, Gabriel, Tavtigian, Sean V., Latchford, Andrew, Frayling, Ian M. https://orca.cardiff.ac.uk/view/cardiffauthors/A378259U.htmlTest, Plon, Sharon E., Greenblatt, Marc, Macrae, Finlay A. and Aretz, Stefan 2024. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genetics in Medicine 26 (2) , 100992. 10.1016/j.gim.2023.100992 https://doi.org/10.1016/j.gim.2023.100992Test file https://orca.cardiff.ac.uk/id/eprint/166142/1/Gene-specific%20ACMG%20AMP%20classification%20criteria.pdfTest

الإتاحة: https://doi.org/10.1016/j.gim.2023.100992Test
https://orca.cardiff.ac.uk/id/eprint/166142Test/
https://orca.cardiff.ac.uk/id/eprint/166142/1/Gene-specific%20ACMG%20AMP%20classification%20criteria.pdfTest

المؤلفون: Block, Ines, Mateu-Regué, Àngels, Do, Thi Tuyet Nhu, Miceikaite, Ieva, Sdogati, Daniel, Larsen, Martin J, Hao, Qin, Nielsen, Henriette Roed, Boonen, Susanne E, Skytte, Anne-Bine, Jensen, Uffe Birk, Høffding, Louise K, De Nicolo, Arcangela, Viel, Alessandra, Tudini, Emma, Parsons, Michael T, Hansen, Thomas V O, Rossing, Maria, Kruse, Torben A, Spurdle, Amanda B, Thomassen, Mads

المصدر: Block , I , Mateu-Regué , À , Do , T T N , Miceikaite , I , Sdogati , D , Larsen , M J , Hao , Q , Nielsen , H R , Boonen , S E , Skytte , A-B , Jensen , U B , Høffding , L K , De Nicolo , A , Viel , A , Tudini , E , Parsons , M T , Hansen , T V O , Rossing , M , Kruse , T A , Spurdle , A B & Thomassen , M 2024 , ' ....

مصطلحات موضوعية: Humans, Male, BRCA1 Protein/genetics, Fanconi Anemia/genetics, Breast Neoplasms, Exons/genetics, Mitomycin, Phenotype, Fanconi Anemia, Variant classification, BRCA1, Dual carrier, Transcription activation domain assay, Exon duplication

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/5a168379-1cad-46ed-bd4b-53fd38f5a4c4Test

الإتاحة: https://doi.org/10.1186/s13058-023-01755-9Test
https://portal.findresearcher.sdu.dk/da/publications/5a168379-1cad-46ed-bd4b-53fd38f5a4c4Test
https://findresearcher.sdu.dk/ws/files/253736824/s13058-023-01755-9.pdfTest

المؤلفون: Dareng, Eileen O., Tyrer, Jonathan P., Barnes, Daniel R., Jones, Michelle R., Yang, Xin, Aben, Katja K. H., Adank, Muriel A., Agata, Simona, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Arun, Banu K., Augustinsson, Annelie, Balmana, Judith, Bandera, Elisa, V, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia, V, Bonanni, Bernardo, Borg, Ake, Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Buys, Saundra S., Cai, Hui, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Cassingham, Hayley, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chiew, Yoke-Eng, Chung, Wendy K., Claes, Kathleen B. M., Colonna, Sarah, Cook, Linda S., Couch, Fergus J., Daly, Mary B., Dao, Fanny, Davies, Eleanor, de la Hoya, Miguel, de Putter, Robin, Dennis, Joe, DePersia, Allison, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer A., Domchek, Susan M., Dork, Thilo, du Bois, Andreas, Durst, Matthias, Eccles, Diana M., Eliassen, Heather A., Engel, Christoph, Evans, Gareth D., Fasching, Peter A., Flanagan, James M., Fortner, ReneeT, Machackova, Eva, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gensini, Francesca, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Group, Opal Study, Group, AOCS, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harris, Holly R., Hartman, Mikael, Heitz, Florian, Hildebrandt, Michelle A. T., Hogdall, Estrid, Hogdall, Claus K., Hopper, John L., Huang, Ruea-Yea, Huff, Chad, Hulick, Peter J., Huntsman, David G., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Allan, Johannsson, Oskar Th, John, Esther M., Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony, Kelemen, Linda E., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kim, Byoung-Gie, Kjaer, Susanne K., Komenaka, Ian, Kupryjanczyk, Jolanta, Kurian, Allison W., Kwong, Ava, Lambrechts, Diether, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Li, Lian, Li, Jingmei, Loud, Jennifer T., Lu, Karen H., Mai, Phuong L., Manoukian, Siranoush, Marks, Jeffrey R., KimMatsuno, Rayna, Matsuo, Keitaro, May, Taymaa, McGuffog, Lesley, McLaughlin, John R., McNeish, Iain A., Mebirouk, Noura, Menon, Usha, Miller, Austin, Milne, Roger L., Minlikeeva, Albina, Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Munro, Elizabeth, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nielsen, Henriette Roed, Nielsen, Finn C., Nikitina-Zake, Liene, Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olbrecht, Siel, Olopade, Olufunmilayo, I, Olson, Sara H., Olsson, Hakan, Osorio, Ana, Papi, Laura, Park, Sue K., Parsons, Michael T., Pathak, Harsha, Pedersen, Inge Sokilde, Peixoto, Ana, Pejovic, Tanja, Perez-Segura, Pedro, Permuth, Jennifer B., Peshkin, Beth, Peterlongo, Paolo, Piskorz, Anna, Prokofyeva, Darya, Radice, Paolo, Rantala, Johanna, Riggan, Marjorie J., Risch, Harvey A., Rodriguez-Antona, Cristina, Ross, Eric, Rossing, Mary Anne, Runnebaum, Ingo, Sandler, Dale P., Santamarina, Marta, Soucy, Penny, Schmutzler, Rita K., Setiawan, V. Wendy, Shan, Kang, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sokolenko, Anna P., Song, Honglin, Southey, Melissa C., Steed, Helen, Stoppa-Lyonnet, Dominique, Sutphen, Rebecca, Swerdlow, Anthony J., Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Terry, Kathryn L., BethTerry, Mary, Thomassen, Mads, Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tischkowitz, Marc, Titus, Linda, Toland, Amanda E., Torres, Diana, Trabert, Britton, Travis, Ruth, Tung, Nadine, Tworoger, Shelley S., Valen, Ellen, van Altena, Anne M., van der Hout, Annemieke H., Nieuwenhuysen, ElsVan, van Rensburg, Elizabeth J., Vega, Ana, Edwards, Digna Velez, Vierkant, Robert A., Wang, Frances, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, White, Emily, Whittemore, Alice S., Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zavaglia, Katia M., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Kleibl, Zdenek, Easton, Douglas, Lawrenson, Kate, DeFazio, Anna, Sellers, Thomas A., Ramus, Susan J., Pearce, Celeste L., Monteiro, Alvaro N., Cunningham, Julie, Goode, Ellen L., Schildkraut, Joellen M., Berchuck, Andrew, Chenevix-Trench, Georgia, Gayther, Simon A., Antoniou, Antonis C., Pharoah, Paul D. P.

المصدر: European Journal of Human Genetics. 30(3):349-362

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-486033Test
https://doi.org/10.1038/s41431-021-00987-7Test
https://uu.diva-portal.org/smash/get/diva2:1700369/FULLTEXT01.pdfTest

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

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

مصطلحات موضوعية: Mutation carriers, Association, Ovarian, Cancers

وصف الملف: application/pdf

العلاقة: 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 , Balmana , J , Barkardottir , R B , Barrowdale , D , Barwell , J , Belotti , M , Benitez , J , Berthet , P , Boonen , S E , Borg , A , Bozsik , A , Brady , A F , Brennan , P , Brewer , C , Brunet , J , Bucalo , A , Buys , S S , Caldes , 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 , Feliubadalo , 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-Fernandez , 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 , 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 , Ronlund , K , Rump , A , Sanchez 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 , Teule , 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 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; ORCID: /0000-0002-5895-1808/work/128027373; http://hdl.handle.net/10138/354035Test; 02a50b1f-2bb2-430e-9d88-e585b49420fd; 000748167200017

الإتاحة: http://hdl.handle.net/10138/354035Test

المؤلفون: Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomaki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmana, 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 B. M., Collonge-Rame, Marie-Agnes, 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, Feliubadalo, 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., 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, Clementine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, 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., Ronlund, 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 Engelen, Klaartje, 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: Medicum, Research Programs Unit, Kristiina Aittomäki / Principal Investigator, HUSLAB, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics

مصطلحات موضوعية: Estrogen-metabolizing enzymes, Isoform 1a1 sult1a1, Dna-adducts, Genetic polymorphisms, Familial breast, Brca1, Ovarian, Sulfotransferase, Expression, Association, 3111 Biomedicine

وصف الملف: application/pdf

العلاقة: Hakkaart , C , Pearson , J F , Marquart , L , Dennis , J , Wiggins , G A R , Barnes , D R , Robinson , B A , Mace , P D , Aittomaki , K , Andrulis , I L , Arun , B K , Azzollini , J , Balmana , 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 , Feliubadalo , 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 , Ronlund , 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 2022 , ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ' , Communications Biology , vol. 5 , no. 1 , 1061 . https://doi.org/10.1038/s42003-022-03978-6Test; 5ff4ed03-3381-4b9a-ad95-b0cd4b23a943; http://hdl.handle.net/10138/354297Test; 000864656700002

الإتاحة: http://hdl.handle.net/10138/354297Test

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

المساهمون: Barnes, Daniel R, Silvestri, Valentina, Leslie, Goska, Mcguffog, Lesley, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berthet, Pascaline, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Brady, Angela, Brennan, Paul, Brewer, Carole, Brunet, Joan, Bucalo, Agostino, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Cassingham, Hayley, Lotte Christensen, Lise, Cini, Giulia, Claes, Kathleen B M, Cook, Jackie, Coppa, Anna, Cortesi, Laura, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesú, Diez, Orland, Chun Ding, Yuan, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Eeles, Ro, Engel, Christoph, Gareth Evans, D, Feliubadaló, Lidia, Fostira, Florentia, Frone, Megan, Frost, Debra, Gallagher, David, Gehrig, Andrea, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gregory, Helen, Gross, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V O, Hanson, Helen, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Izquierdo, Angel, James, Paul A, Janavicius, Ramuna, Birk Jensen, Uffe, Johannsson, Oskar Th, John, Esther M, Kramer, Gero, Kroeldrup, Lone, Kruse, Torben A, Lautrup, Charlotte, Lazaro, Conxi, Lesueur, Fabienne, Lopez-Fernández, Adria, Mai, Phuong L, Manoukian, Siranoush, Matrai, Zoltan, Matricardi, Laura, Maxwell, Kara N, Mebirouk, Noura, Meindl, Alfon, Montagna, Marco, Monteiro, Alvaro N, Morrison, Patrick J, Muranen, Taru A

مصطلحات موضوعية: BRCA1, BRCA2, PRS, genetic, male breast cancer, polygenic, prostate cancer

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34320204; info:eu-repo/semantics/altIdentifier/wos/WOS:000748167200017; volume:114; issue:1; firstpage:109; lastpage:122; numberofpages:14; journal:JOURNAL OF THE NATIONAL CANCER INSTITUTE; http://hdl.handle.net/11573/1574218Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122613384

الإتاحة: https://doi.org/10.1093/jnci/djab147Test
http://hdl.handle.net/11573/1574218Test

المؤلفون: Barnes, Daniel R, Tyrer, Jonathan P, Dennis, Joe, Leslie, Goska, Bolla, Manjeet K, Lush, Michael, Aeilts, Amber M, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L, Anton-Culver, Hoda, Arason, Adalgeir, Arun, Banu K, Balmaña, Judith, Bandera, Elisa V, Barkardottir, Rosa B, Berger, Lieke P V, de Gonzalez, Amy Berrington, Berthet, Pascaline, BiaÅ‚kowska, Katarzyna, Bjørge, Line, Blanco, Amie M, Blok, Marinus J, Bobolis, Kristie A, Bogdanova, Natalia V, Brenton, James D, Butz, Henriett, Buys, Saundra S, Caligo, Maria A, Campbell, Ian, Castillo, Carmen, Claes, Kathleen B M, Colonna, Sarah V, Cook, Linda S, Daly, Mary B, Dansonka-Mieszkowska, Agnieszka, de la Hoya, Miguel, deFazio, Anna, DePersia, Allison, Ding, Yuan Chun, Domchek, Susan M, Dörk, Thilo, Einbeigi, Zakaria, Engel, Christoph, Evans, D Gareth, Foretova, Lenka, Fortner, Renée T, Fostira, Florentia, Foti, Maria Cristina, Friedman, Eitan, Frone, Megan N, Ganz, Patricia A, Gentry-Maharaj, Aleksandra, Glendon, Gord, Godwin, Andrew K, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guerrieri-Gonzaga, Aliana, Hamann, Ute, Hansen, Thomas V O, Harris, Holly R, Hauke, Jan, Heitz, Florian, Hogervorst, Frans B L, Hooning, Maartje J, Hopper, John L, Huff, Chad D, Huntsman, David G, Imyanitov, Evgeny N, Izatt, Louise, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, John, Esther M, Kar, Siddhartha, Karlan, Beth Y, Kennedy, Catherine J, Kiemeney, Lambertus A L M, Konstantopoulou, Irene, Kupryjanczyk, Jolanta, Laitman, Yael, Lavie, Ofer, Lawrenson, Kate, Lester, Jenny, Lesueur, Fabienne, Lopez-Pleguezuelos, Carlos, Mai, Phuong L, Manoukian, Siranoush, May, Taymaa, McNeish, Iain A, Menon, Usha, Milne, Roger L, Modugno, Francesmary, Mongiovi, Jennifer M, Montagna, Marco, Moysich, Kirsten B, Neuhausen, Susan L, Nielsen, Finn C, Noguès, Catherine, Oláh, Edit, Olopade, Olufunmilayo I, Osorio, Ana, Papi, Laura, Pathak, Harsh, Pearce, Celeste L, Pedersen, Inge S, Peixoto, Ana, Pejovic, Tanja, Peng, Pei-Chen, Peshkin, Beth N, Peterlongo, Paolo, Powell, C Bethan, Prokofyeva, Darya, Pujana, Miquel Angel, Radice, Paolo, Rashid, Muhammad U, Rennert, Gad, Richenberg, George, Sandler, Dale P, Sasamoto, Naoko, Setiawan, Veronica W, Sharma, Priyanka, Sieh, Weiva, Singer, Christian F, Snape, Katie, Sokolenko, Anna P, Soucy, Penny, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Sutphen, Rebecca, Sutter, Christian, Teixeira, Manuel R, Terry, Kathryn L, Thomsen, Liv Cecilie V, Tischkowitz, Marc, Toland, Amanda E, Van Gorp, Toon, Vega, Ana, Velez Edwards, Digna R, Webb, Penelope M, Weitzel, Jeffrey N, Wentzensen, Nicolas, Whittemore, Alice S, Winham, Stacey J, Wu, Anna H, Yadav, Siddhartha, Yu, Yao, Ziogas, Argyrios, Berchuck, Andrew, Couch, Fergus J, Goode, Ellen L, Goodman, Marc T, Monteiro, Alvaro N, Offit, Kenneth, Ramus, Susan J, Risch, Harvey A, Schildkraut, Joellen M, Thomassen, Mads, Simard, Jacques, Easton, Douglas F, Jones, Michelle R, Chenevix-Trench, Georgia, Gayther, Simon A, Antoniou, Antonis C, Pharoah, Paul D P

المصدر: Articles, Abstracts, and Reports

مصطلحات موضوعية: oregon, medford, genomics, Epidemiology, Obstetrics and Gynecology, Oncology

العلاقة: https://digitalcommons.providence.org/publications/8634Test; https://pubmed.ncbi.nlm.nih.gov/38496424Test

الإتاحة: https://digitalcommons.providence.org/publications/8634Test
https://pubmed.ncbi.nlm.nih.gov/38496424Test

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 B M, 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., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavičius, Ramūnas, 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 Engelen, Klaartje, 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.

المصدر: Communications biology., Berlin : Nature Portfolio, 2022, vol. 5, no. 1, art. no. 1061, p. [1-15]. ; eISSN 2399-3642

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:152021971/152021971.pdfTest; https://repository.vu.lt/VU:ELABAPDB152021971&prefLang=en_USTest

الإتاحة: https://doi.org/10.1038/s42003-022-03978-6Test
https://repository.vu.lt/VU:ELABAPDB152021971&prefLang=en_USTest

المؤلفون: Thomassen, Mads, Mesman, Romy L. S., Hansen, Thomas V. O., Menendez, Mireia, Rossing, Maria, Esteban Sánchez, Ada, Tudini, Emma, Törngren, Therese, Parsons, Michael T., Pedersen, Inge S., Teo, Soo H., Kruse, Torben A., Møller, Pål, Borg, Åke, Jensen, Uffe B., Christensen, Lise L., Singer, Christian F., Muhr, Daniela, Santamarina, Marta, Brandao, Rita, Andresen, Brage S., Feng, Bing Jian, Canson, Daffodil, Richardson, Marcy E., Karam, Rachid, Pesaran, Tina, Laduca, Holly, Conner, Blair R., Abualkheir, Nelly, Hoang, Lily, Calléja, Fabienne M. G. R., Andrews, Lesley, James, Paul A., Bunyan, Dave, Hamblett, Amanda, Radice, Paolo, Goldgar, David E., Walker, Logan C., Engel, Christoph, Claes, Kathleen B. M., Macháčková, Eva, Baralle, Diana, Viel, Alessandra, Wappenschmidt, Barbara, Lazaro, Conxi, Vega, Ana, Vreeswijk, Maaike P. G., Hoya, Miguel de la, Spurdle, Amanda B., Enigma Consortium

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Genètica molecular, RNA, Molecular genetics

وصف الملف: 24 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1002/humu.24449Test; Human Mutation, 2022, vol. 43, num. 12, p. 1921-1944; https://doi.org/10.1002/humu.24449Test; http://hdl.handle.net/2445/205300Test

الإتاحة: https://doi.org/10.1002/humu.24449Test
http://hdl.handle.net/2445/205300Test

المؤلفون: Thomassen, Mads, Mesman, Romy L S, Hansen, Thomas V O, Menendez, Mireia, Rossing, Maria, Esteban-Sánchez, Ada, Tudini, Emma, Törngren, Therese, Parsons, Michael T, Pedersen, Inge Sokilde, Teo, Soo Hwang, Kruse, Torben A, Møller, Pål, Borg, Åke, Jensen, Uffe Birk, Christensen, Lise Lotte, Singer, Christian F, Muhr, Daniela, Santamarina, Marta, Brandao, Rita, Andresen, Brage S, Feng, Bing-Jian, Canson, Daffodil, Richardson, Marcy E, Karam, Rachid, Pesaran, Tina, LaDuca, Holly, Conner, Blair R, Abualkheir, Nelly, Hoang, Lily, Calléja, Fabienne M G R, Andrews, Lesley, James, Paul A, Bunyan, Dave, Hamblett, Amanda, Radice, Paolo, Goldgar, David E, Walker, Logan C, Engel, Christoph, Claes, Kathleen B M, Macháčková, Eva, Baralle, Diana, Viel, Alessandra, Wappenschmidt, Barbara, Lazaro, Conxi, Vega, Ana, Consortium, Enigma, Vreeswijk, Maaike P G, de la Hoya, Miguel, Spurdle, Amanda B

المصدر: Thomassen , M , Mesman , R L S , Hansen , T V O , Menendez , M , Rossing , M , Esteban-Sánchez , A , Tudini , E , Törngren , T , Parsons , M T , Pedersen , I S , Teo , S H , Kruse , T A , Møller , P , Borg , Å , Jensen , U B , Christensen , L L , Singer , C F , Muhr , D , Santamarina , M , Brandao , R , Andresen , B S , Feng , B-J ....

مصطلحات موضوعية: ACMG/AMP classification, BRCA2, dPCR, functional analysis, quantitation, splicing

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/2a62c493-194c-4265-b9ea-cb077fbe3dbfTest

الإتاحة: https://doi.org/10.1002/humu.24449Test
https://portal.findresearcher.sdu.dk/da/publications/2a62c493-194c-4265-b9ea-cb077fbe3dbfTest
https://findresearcher.sdu.dk/ws/files/215098897/Clinical_splicing_and_functional_analysis_to_classify_BRCA2_exon_3_variants_Application_of_a_points_based_ACMG_AMP_approach.pdfTest