المؤلفون: kConFab-AOCS Investigators, Study EMBRACE, Study HEBON

المساهمون: Medicum, Kristiina Aittomäki / Principal Investigator, Clinicum, Department of Medical and Clinical Genetics, Department of Obstetrics and Gynecology, University of Helsinki

مصطلحات موضوعية: BRCA2, digital PCR, multifactorial likelihood analysis, quantitative real-time PCR, spliceogenic variants, UNCLASSIFIED VARIANTS, FANCONI-ANEMIA, INTEGRATED EVALUATION, SEQUENCE VARIANTS, CANCER, GENES, MUTATIONS, BREAST, RISK, RNA, 3111 Biomedicine

وصف الملف: application/pdf

العلاقة: the NHMRC Senior Research Fellowship Scheme; Spanish Instituto de Salud Carlos III funding, an initiative of the Spanish Ministry of Economy and Innovation partially supported by European Regional Development FEDER Funds; Associazione Italiana per la Ricerca sul Cancro, Grant/Award Number: No15547 to P.R.; the Cancer Council Queensland; NHMRC Project grant scheme; kConFab-AOCS Investigators , Study EMBRACE & Study HEBON 2018 , ' The BRCA2 c.68-7T > A variant is not pathogenic : A model for clinical calibration of spliceogenicity ' , Human mutation , vol. 39 , no. 5 , pp. 729-741 . https://doi.org/10.1002/humu.23411Test; http://hdl.handle.net/10138/236623Test; 8b1fe26f-e328-4949-b0e8-2fb5b55f50cc; 85044863861; 000433600000012

الإتاحة: http://hdl.handle.net/10138/236623Test

المؤلفون: Phelan, Catherine M., Kuchenbaecker, Karoline B., Tyrer, Jonathan P., Kar, Siddhartha P., Lawrenson, Kate, Winham, Stacey J., Dennis, Joe, Pirie, Ailith, Riggan, Marjorie, Chornokur, Ganna, Earp, Madalene A., Wu, Anna H., Cook, Jackie, Ana, Vega, Fogarty, Zachary C., Pike, Malcolm C., Teixeira, Manuel R., Eeles, Rosalind A., Gentry-Maharaj, Aleksandra, van Nieuwenhuysen, Els, Mazoyer, Sylvie, Hazelett, Dennis, Lele, Shashikant B., Delnatte, Capucine, Milne, Roger L., Thomassen, Mads, Hunter, David J., Gruber, Stephen B., Arver, Brita, Schoemaker, Minouk J., Nevanlinna, Heli, Vergote, Ignace, Ottini, Laura, Caligo, Maria A., Musinsky, Jacob, Hauke, Jan, Thull, Darcy L., Ejlertsen, Bent, Adlard, Julian, Wappenschmidt, Barbara, Friedman, Eitan, Davidson, Rosemarie, Doherty, Jennifer A., Wilkens, Lynne R., Arnold, Norbert, Piedmonte, Marion, O'Malley, David M., Chung, Wendy K., Barrowdale, Daniel, Pejovic, Tanja, Antonenkova, Natalia N., Elvira, Mingajeva, Garcia Barberan, Vanesa, Chang-Claude, Jenny, Arun, Banu K., van der Luijt, Rob B., Wijnen, Juul, Sellers, Thomas A., Balmaña, Judith, Wolk, Alicja, Chenevix-Trench, Georgia, Kobel, Martin, Frost, Debra, Rice, Patricia, Ferrer, Sandra Fert, Lester, Jenny, Rappaport-Fuerhauser, Christine, Vijai, Joseph, Eng, Kevin H., Toland, Amanda Ewart, Foulkes, William D., Hung, Jillian, Lilyquist, Jenna, Høgdall, Claus K., Izatt, Louise, Hansen, Thomas V. O., Peixoto, Ana, Lu, Karen H., Luccarini, Craig, Lee, Andrew, Weinberg, Clarice R., Claes, Kathleen B. M., Benitez, Javier, Radice, Paolo, Borg, Åke, Karlan, Beth Y., Bermisheva, Marina, Dicks, Ed, Bodelon, Clara, Cramer, Daniel W., Fridley, Brooke L., Pearce, Celeste L., Walker, Lisa, Peterlongo, Paolo, Soucy, Penny, Olsson, Håkan, Spurdle, Amanda B., Carney, Michael E., Rookus, Matti A., Aalfs, Cora M., Chan, Salina B., Huang, Ruea-Yea, Bogdanova, Natalia V., Laitman, Yael, Tischkowitz, Marc, Kelemen, Linda E., Kast, Karin, Lesueur, Fabienne, Black, Amanda, Rhiem, Kerstin, Phillips, Kelly-Anne, Izquierdo i Font, Àngel Xavier, Yannoukakos, Drakoulis, Damiola, Francesca, Montagna, Marco, Lundvall, Lene, Lee, Janet M., Wang-Gohrke, Shan, Side, Lucy E., Bonanni, Bernardo, Harrington, Patricia A., Setiawan, V. Wendy, McGuire, Valerie, Simard, Jacques, Khusnutdinova, Elza, Engel, Christoph, Bruinsma, Fiona, Marchand, Loïc Le, Iversen, Edwin S., Jernetz, Mats, Flanagan, James M., Tinker, Anna V., Stadler, Zsofia K., Hogervorst, Frans B. L., Ramus, Susan J., Teo, Soo-Hwang, Ferguson, Sarah, Kiiski, Johanna I., Leslie, Goska, Hillemanns, Peter, Birrer, Michael J., Huntsman, David G., Ganz, Patricia A., Fostira, Florentia, Sucheston-Campbell, Lara E., Moes-Sosnowska, Joanna, Paul, James, Domchek, Susan M., van ensburg, Elizabeth J., Kupryjanczyk, Jolanta, Heetvelde, Mattias Van, Bradbury, Angela R., Kim, Sung-Won, Berchuck, Andrew, Díez Gibert, Orland, Azzollini, Jacopo, Poppe, Bruce, Menon, Usha, Ness, Roberta B., May, Taymaa, Prokofyeva, Darya, Pugh, Elizabeth, Eilber, Ursula, Buecher, Bruno, Holland, Helene, Ding, Yuan Chun, van der Hout, Annemarie H., Goldgar, David E., Ong, Kai Ren, Dork, Thilo, Giles, Graham G., Hulick, Peter J., Lázaro García, Conxi, Szafron, Lukasz, Brewer, Carole, Thompson, Pamela J., Edwards, Todd L., Southey, Melissa C., Pedersen, Inge Søkilde, Hein, Alexander, Ellis, Steve, Hildebrandt, Mat, Study EMBRACE, Glasspool, Rosalind, Peissel, Bernard, Monteiro, Alvaro N., Aloisio, Aimee A. D’, Onland-Moret, N. Charlotte, Piskorz, Anna M., Huzarski, Tomasz, Tihomirova, Laima, Neuhausen, Susan L., Chanock, Stephen J., Rothstein, Joseph H., Sandler, Dale P., Pujana Genestar, M. Ángel, Dao, Fanny, Brooks-Wilson, Angela R., Bean, Yukie, Godwin, Andrew K., Webb, Penelope M., Richardson, Andrea, Dansonka-Mieszkowska, Agnieszka, Orsulic, Sandra, Kjaer, Susanne Krüger, Hahnen, Eric, Pezzani, Lidia, Nedergaard, Lotte, Nussbaum, Robert L., Kwong, Ava, Hooning, Maartje J., Merritt, Melissa A., Cook, Linda S., Risch, Harvey A., Kruse, Torben A., Palli, Domenico, Lyra, Paulo C., Meijers-Heijboer, Hanne, Coetzee, Simon, Moysich, Kirsten B., Lambrechts, Diether, Zorn, Kristin K., Salvesen, Helga B., Szabo, Csilla I., Jensen, Allan, Blankstein, Kenneth, Lee, Jong Won, Bjorge, Line, Beesley, Jonathan, Papi, Laura, James, Paul, Fortner, Renée T., Trabert, Britton, Romm, Jane, Shelford, Tameka, Rennert, Gad, Tung, Nadine, Tworoger, Shelley S., Kennedy, Catherine J., Håkansson, Niclas, Janavicius, Ramunas, Bernardini, Marcus Q., Lissowska, Jolanta, Steinemann, Doris, Jensen, Uffe Birk, Liang, Dong, Karnezis, Anthony N., Permuth, Jennifer B., Campbell, Ian, Gore, Martin, Doheny, Kimberly F., Wu, Xifeng, Tan, Yen Y., Butzow, Ralf, Kiemeney, Lambertus A. L. M., McNeish, Iain, Gerdes, Anne-Marie, Liebrich, Clemens, Tea, Muy-Kheng, Edwards, Digna Velez, Stoppa-Lyonnet, Dominique, Tognazzo, Silvia, Mulligan, Anna Marie, Schmutzler, Rita Katharina, Siddiqui, Nadeem, Hodgson, Shirley, Vratimos, Athanassios, Wand, Dorothea, van Altena, Anne M., Isaacs, Claudine, Park-Simon, Tjoung-Won, Lipworth, Loren, Brunet, Joan, Vanderstichele, Adriaan, Imyanitov, Evgeny N., Sukiennicki, Grzegorz, Caldes, Trinidad, Mai, Phuong L., Thomsen, Liv Cecilie Vestrheim, Sharma, Priyanka, Peeters, Petra H. M., Mitchell, Gillian, Anton-Culver, Hoda, Hosking, Karen, Daly, Mary B., Cannioto, Rikki, Sutphen, Rebecca, Dossus, Laure, Rodriguez, Gustavo C., Durst, Matthias, Olopade, Olufunmilayo I., Chiew, Yoke-Eng, Walsh, Christine, Schildkraut, Joellen M., Odunsi, Kunle, Henderson, Alex, Pfeiler, Georg, Garcia, Maria Jose, Dworniczak, Bernd, Sutter, Christian, Lecarpentier, Julie, Goode, Ellen L., Garber, Judy, Wentzensen, Nicolas, Barjhoux, Laure, Gayther, Simon A., Antoniou, Antonis C., Orr, Nicholas, Manoukian, Siranoush, Niederacher, Dieter, Prieur, Fabienne, Larson, Melissa C., Olah, Edith, Pocza, Timea, Andrulis, Irene L., Terry, Kathryn L., Harris, Holly R., Lubinski, Jan, Jakubowska, Anna, Cescon, Terence, Hamann, Ute, Osorio, Ana, Robson, Mark, Levine, Douglas A., Poole, Elizabeth M., Park, Sue K., Bojesen, Anders, Ziogas, Argyrios, Couch, Fergus J., Senter, Leigha, Whittemore, Alice, Meindl, Alfons, Brenton, James D., Broberg, Per, Pharoah, Paul D. P., Nathanson, Katherine L., Swerdlow, Anthony J., Porteous, Mary E., Haiman, Christopher A., Blok, Marinus J., Beckmann, Matthias W., McGuffog, Lesley, Pujol, Pascal, Offit, Kenneth, Weitzel, Jeffrey N., Taylor, Jack A., Rudolph, Anja, Fasching, Peter A., Modugno, Francesmary, Friebel, Tara M., Narod, Steven A., John, Esther M., Durán, Mercedes, Jones, Michael E., Song, Honglin, Høgdall, Estrid, Brinton, Louise A., Conner, Thomas, Singer, Christian F., McLaughlin, John R., Leroux, Dominique, Kannisto, Päivi, Easton, Douglas F., Ekici, Arif B., Larrañaga, Nerea, Leminen, Arto, Aben, Katja K., Fountzilas, George, Yang, Hannah, Moffitt, Melissa, Rantala, Johanna, Sieh, Weiva, Trichopoulou, Antonia, Pelttari, Liisa M., Sobol, Hagay, Tone, Alicia, Evans, D. Gareth, Beeghly-Fadiel, Alicia, McAlpine, Jessica N., Aravantinos, Gerasimos, Gehrig, Andrea, Massuger, Leon F. A. G., Rossing, Mary Anne, Adams, Marcia, Poblete, Samantha R., Banerjee, Susana N., Cunningham, Julie M., Glendon, Gord, Chen, Xiao Qing, Defazio, Anna, Buys, Saundra S., Rodriguez Antona, Cristina, Goranova, Teodora, Gronwald, Jacek, Dorfling, Cecilia M., Severi, Gianluca, Amos, Christopher I., Travis, Ruth C., Mendoza-Fandino, Gustavo A., Vierkant, Robert A., Eccles, Diana, van den Berg, David Berg, David, Damirovna, Sakaeva Dina, Varon-Mateeva, Raymonda, Goodman, Marc T., Barkardottir, Rosa B., Kopperud, Reidun K., Runnebaum, Ingo B., Le, Nhu D., Chiquette, Jocelyne, Johnatty, Sharon, Olswold, Curtis, Woo, Michelle, Mensenkamp, Arjen R., Greene, Mark H.

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

مصطلحات موضوعية: Càncer d'ovari, Ovarian cancer

وصف الملف: 36 p.; application/pdf

العلاقة: Versió postprint del document publicat a: https://doi.org/10.1038/ng.3826Test; Nature Genetics, 2017, vol. 49, num. 5, p. 680-691; https://doi.org/10.1038/ng.3826Test; http://hdl.handle.net/2445/124402Test

الإتاحة: https://doi.org/10.1038/ng.3826Test
http://hdl.handle.net/2445/124402Test

المؤلفون: Phelan, CM, Kuchenbaecker, KB, Tyrer, JP, Kar, SP, Lawrenson, K, Winham, SJ, Dennis, J, Pirie, A, Riggan, MJ, Chornokur, G, Earp, MA, Lyra, PC, Lee, JM, Coetzee, S, Beesley, J, McGuffog, L, Soucy, P, Dicks, E, Lee, A, Barrowdale, D, Lecarpentier, J, Leslie, G, Aalfs, CM, Aben, KKH, Adams, M, Adlard, J, Andrulis, IL, Anton-Culver, H, Antonenkova, N, Group,, Aocs Study, Aravantinos, G, Arnold, N, Arun, BK, Arver, B, Azzollini, J, Balmaña, J, Banerjee, SN, Barjhoux, L, Barkardottir, RB, Bean, Y, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, MQ, Birrer, MJ, Bjorge, L, Black, A, Blankstein, K, Blok, MJ, Bodelon, C, Bogdanova, N, Bojesen, A, Bonanni, B, Borg, Å, Bradbury, AR, Brenton, JD, Brewer, C, Brinton, L, Broberg, P, Brooks-Wilson, A, Bruinsma, F, Brunet, J, Buecher, B, Butzow, R, Buys, SS, Caldes, T, Caligo, MA, Campbell, I, Cannioto, R, Carney, ME, Cescon, T, Chan, SB, Chang-Claude, J, Chanock, S, Chen, XQ, Chiew, Y-E, Chiquette, J, Chung, WK, Claes, KBM, Conner, T, Cook, LS, Cook, J, Cramer, DW, Cunningham, JM, D'Aloisio, AA, Daly, MB, Damiola, F, Damirovna, SD, Dansonka-Mieszkowska, A, Dao, F, Davidson, R, Defazio, A, Delnatte, C, Doheny, KF, Diez, O, Ding, YC, Doherty, JA, Domchek, SM, Dorfling, CM, Dörk, T, Dossus, L, Duran, M, Dürst, M, Dworniczak, B, Eccles, D, Edwards, T, Eeles, R, Eilber, U, Ejlertsen, B, Ekici, AB, Ellis, S, Elvira, M, Study,, Embrace, Eng, KH, Engel, C, Evans, DG, Fasching, PA, Ferguson, S, Ferrer, SF, Flanagan, JM, Fogarty, ZC, Fortner, RT, Fostira, F, Foulkes, WD, Fountzilas, G, Fridley, BL, Friebel, TM, Friedman, E, Frost, D, Ganz, PA, Garber, J, García, MJ, Garcia-Barberan, V, Gehrig, A, Collaborators,, Gemo Study, Gentry-Maharaj, A, Gerdes, A-M, Giles, GG, Glasspool, R, Glendon, G, Godwin, AK, Goldgar, DE, Goranova, T, Gore, M, Greene, MH, Gronwald, J, Gruber, S, Hahnen, E, Haiman, CA, Håkansson, N, Hamann, U, Hansen, TVO, Harrington, PA, Harris, HR, Hauke, J, Study,, Hebon, Hein, A, Henderson, A, Hildebrandt, MAT, Hillemanns, P, Hodgson, S, Høgdall, CK, Høgdall, E, Hogervorst, FBL, Holland, H, Hooning, MJ, Hosking, K, Huang, R-Y, Hulick, PJ, Hung, J, Hunter, DJ, Huntsman, DG, Huzarski, T, Imyanitov, EN, Isaacs, C, Iversen, ES, Izatt, L, Izquierdo, A, Jakubowska, A, James, P, Janavicius, R, Jernetz, M, Jensen, A, Jensen, UB, John, EM, Johnatty, S, Jones, ME, Kannisto, P, Karlan, BY, Karnezis, A, Kast, K, Investigators,, Kconfab, Kennedy, CJ, Khusnutdinova, E, Kiemeney, LA, Kiiski, JI, Kim, S-W, Kjaer, SK, Köbel, M, Kopperud, RK, Kruse, TA, Kupryjanczyk, J, Kwong, A, Laitman, Y, Lambrechts, D, Larrañaga, N, Larson, MC, Lazaro, C, Le, ND, Le Marchand, L, Lee, JW, Lele, SB, Leminen, A, Leroux, D, Lester, J, Lesueur, F, Levine, DA, Liang, D, Liebrich, C, Lilyquist, J, Lipworth, L, Lissowska, J, Lu, KH, Lubinński, J, Luccarini, C, Lundvall, L, Mai, PL, Mendoza-Fandiño, G, Manoukian, S, Massuger, LFAG, May, T, Mazoyer, S, McAlpine, JN, McGuire, V, McLaughlin, JR, McNeish, I, Meijers-Heijboer, H, Meindl, A, Menon, U, Mensenkamp, AR, Merritt, MA, Milne, RL, Mitchell, G, Modugno, F, Moes-Sosnowska, J, Moffitt, M, Montagna, M, Moysich, KB, Mulligan, AM, Musinsky, J, Nathanson, KL, Nedergaard, L, Ness, RB, Neuhausen, SL, Nevanlinna, H, Niederacher, D, Nussbaum, RL, Odunsi, K, Olah, E, Olopade, OI, Olsson, H, Olswold, C, O'Malley, DM, Ong, K-R, Onland-Moret, NC, Group,, Opal Study, Orr, N, Orsulic, S, Osorio, A, Palli, D, Papi, L, Park-Simon, T-W, Paul, J, Pearce, CL, Pedersen, IS, Peeters, PHM, Peissel, B, Peixoto, A, Pejovic, T, Pelttari, LM, Permuth, JB, Peterlongo, P, Pezzani, L, Pfeiler, G, Phillips, K-A, Piedmonte, M, Pike, MC, Piskorz, AM, Poblete, SR, Pocza, T, Poole, EM, Poppe, B, Porteous, ME, Prieur, F, Prokofyeva, D, Pugh, E, Pujana, MA, Pujol, P, Radice, P, Rantala, J, Rappaport-Fuerhauser, C, Rennert, G, Rhiem, K, Rice, P, Richardson, A, Robson, M, Rodriguez, GC, Rodríguez-Antona, C, Romm, J, Rookus, MA, Rossing, MA, Rothstein, JH, Rudolph, A, Runnebaum, IB, Salvesen, HB, Sandler, DP, Schoemaker, MJ, Senter, L, Setiawan, VW, Severi, G, Sharma, P, Shelford, T, Siddiqui, N, Side, LE, Sieh, W, Singer, CF, Sobol, H, Song, H, Southey, MC, Spurdle, AB, Stadler, Z, Steinemann, D, Stoppa-Lyonnet, D, Sucheston-Campbell, LE, Sukiennicki, G, Sutphen, R, Sutter, C, Swerdlow, AJ, Szabo, CI, Szafron, L, Tan, YY, Taylor, JA, Tea, M-K, Teixeira, MR, Teo, S-H, Terry, KL, Thompson, PJ, Thomsen, LCV, Thull, DL, Tihomirova, L, Tinker, AV, Tischkowitz, M, Tognazzo, S, Toland, AE, Tone, A, Trabert, B, Travis, RC, Trichopoulou, A, Tung, N, Tworoger, SS, Van Altena, AM, Van Den Berg, D, Van Der Hout, AH, Van Der Luijt, RB, Van Heetvelde, M, Van Nieuwenhuysen, E, Van Rensburg, EJ, Vanderstichele, A, Varon-Mateeva, R, Vega, A, Edwards, DV, Vergote, I, Vierkant, RA, Vijai, J, Vratimos, A, Walker, L, Walsh, C, Wand, D, Wang-Gohrke, S, Wappenschmidt, B, Webb, PM, Weinberg, CR, Weitzel, JN, Wentzensen, N, Whittemore, AS, Wijnen, JT, Wilkens, LR, Wolk, A, Woo, M, Wu, X, Wu, AH, Yang, H, Yannoukakos, D, Ziogas, A, Zorn, KK, Narod, SA, Easton, DF, Amos, CI, Schildkraut, JM, Ramus, SJ, Ottini, L, Goodman, MT, Park, SK, Kelemen, LE, Risch, HA, Thomassen, M, Offit, K, Simard, J, Schmutzler, RK, Hazelett, D, Monteiro, AN, Couch, FJ, Berchuck, A, Chenevix-Trench, G, Goode, EL, Sellers, TA, Gayther, SA, Antoniou, AC, Pharoah, PDP

العلاقة: https://ora.ox.ac.uk/objects/uuid:dca74503-1333-4659-af2b-e988ca97537aTest; https://doi.org/10.1038/ng.3826Test

الإتاحة: https://doi.org/10.1038/ng.3826Test
https://ora.ox.ac.uk/objects/uuid:dca74503-1333-4659-af2b-e988ca97537aTest

المؤلفون: Colombo, M., Lopez-Perolio, I., Meeks, H.D., Caleca, L., Parsons, M.T., Li, H.Y., Vecchi, G. de, Tudini, E., Foglia, C., Mondini, P., Manoukian, S., Behar, R., Garcia, E.B.G., Meindl, A., Montagna, M., Niederacher, D., Schmidt, A.Y., Varesco, L., Wappenschmidt, B., Bolla, M.K., Dennis, J., Michailidou, K., Wang, Q., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Arndt, V., Beckmann, M.W., Beeghly-Fadel, A., Benitez, J., Boeckx, B., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Chang-Claude, J., Conroy, D.M., Couch, F.J., Cox, A., Cross, S.S., Czene, K., Devilee, P., Dork, T., Eriksson, M., Fasching, P.A., Figueroa, J., Fletcher, O., Flyger, H., Gabrielson, M., Garcia-Closas, M., Giles, G.G., Gonzalez-Neira, A., Guenel, P., Haiman, C.A., Hall, P., Hamann, U., Hartman, M., Hauke, J., Hollestelle, A., Hopper, J.L., Jakubowska, A., Jung, A., Kosma, V.M., Lambrechts, D., Marchand, L. le, Lindblom, A., Lubinski, J., Mannermaa, A., Margolin, S., Miao, H., Milne, R.L., Neuhausen, S.L., Nevanlinna, H., Olson, J.E., Peterlongo, P., Peto, J., Pylkas, K., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., See, M.H., Southey, M.C., Swerdlow, A., Teo, S.H., Toland, A.E., Tomlinson, I., Truong, T., Asperen, C.J. van, Ouweland, A.M.W. van den, Kolk, L.E. van der, Winqvist, R., Yannoukakos, D., Zheng, W., Dunning, A.M., Easton, D.F., Henderson, A., Hogervorst, F.B.L., Izatt, L., Offitt, K., Side, L.E., Rensburg, E.J. van, McGuffog, L., Antoniou, A.C., Chenevix-Trench, G., Spurdle, A.B., Goldgar, D.E., Hoya, M. de la, Radice, P., kConFab AOCS Investigators, Study EMBRACE, Study HEBON

المساهمون: Colombo, Mara [0000-0001-5465-354X], Apollo - University of Cambridge Repository

المصدر: Colombo, M; Lòpez-Perolio, I; Meeks, HD; Caleca, L; Parsons, MT; Li, H; et al.(2018). The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.. Human mutation, 39(5), 729-741. doi: 10.1002/humu.23411. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/4zx2r18xTest
Human Mutation: Variation, Informatics and Disease, 39(5), 729-741

مصطلحات موضوعية: BRCA2 Protein, Base Sequence, Models, Genetic, digital PCR, multifactorial likelihood analysis, Mitomycin, RNA Splicing, spliceogenic variants, kConFab/AOCS Investigators, Genetic Variation, Exons, BRCA2, Cell Line, Calibration, Humans, Female, Genetic Predisposition to Disease, RNA, Messenger, quantitative real-time PCR

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fed873f1f7a4d156ff84a6b93c479bc8Test
http://www.escholarship.org/uc/item/4zx2r18xTest

المؤلفون: Mara, Colombo, Irene, Lòpez-Perolio, Huong D, Meeks, Laura, Caleca, Michael T, Parsons, Hongyan, Li, Giovanna, De Vecchi, Emma, Tudini, Claudia, Foglia, Patrizia, Mondini, Siranoush, Manoukian, Raquel, Behar, Encarna B Gómez, Garcia, Alfons, Meindl, Marco, Montagna, Dieter, Niederacher, Ane Y, Schmidt, Liliana, Varesco, Barbara, Wappenschmidt, Manjeet K, Bolla, Joe, Dennis, Kyriaki, Michailidou, Qin, Wang, Kristiina, Aittomäki, Irene L, Andrulis, Hoda, Anton-Culver, Volker, Arndt, Matthias W, Beckmann, Alicia, Beeghly-Fadel, Javier, Benitez, Bram, Boeckx, Natalia V, Bogdanova, Stig E, Bojesen, Bernardo, Bonanni, Hiltrud, Brauch, Hermann, Brenner, Barbara, Burwinkel, Jenny, Chang-Claude, Don M, Conroy, Fergus J, Couch, Angela, Cox, Simon S, Cross, Kamila, Czene, Peter, Devilee, Thilo, Dörk, Mikael, Eriksson, Peter A, Fasching, Jonine, Figueroa, Olivia, Fletcher, Henrik, Flyger, Marike, Gabrielson, Montserrat, García-Closas, Graham G, Giles, Anna, González-Neira, Pascal, Guénel, Christopher A, Haiman, Per, Hall, Ute, Hamann, Mikael, Hartman, Jan, Hauke, Antoinette, Hollestelle, John L, Hopper, Anna, Jakubowska, Audrey, Jung, Veli-Matti, Kosma, Diether, Lambrechts, Loid, Le Marchand, Annika, Lindblom, Jan, Lubinski, Arto, Mannermaa, Sara, Margolin, Hui, Miao, Roger L, Milne, Susan L, Neuhausen, Heli, Nevanlinna, Janet E, Olson, Paolo, Peterlongo, Julian, Peto, Katri, Pylkäs, Elinor J, Sawyer, Marjanka K, Schmidt, Rita K, Schmutzler, Andreas, Schneeweiss, Minouk J, Schoemaker, Mee Hoong, See, Melissa C, Southey, Anthony, Swerdlow, Soo H, Teo, Amanda E, Toland, Ian, Tomlinson, Thérèse, Truong, Christi J, van Asperen, Ans M W, van den Ouweland, Lizet E, van der Kolk, Robert, Winqvist, Drakoulis, Yannoukakos, Wei, Zheng, Alison M, Dunning, Douglas F, Easton, Alex, Henderson, Frans B L, Hogervorst, Louise, Izatt, Kenneth, Offitt, Lucy E, Side, Elizabeth J, van Rensburg, Study, Embrace, Study, Hebon, Lesley, McGuffog, Antonis C, Antoniou, Georgia, Chenevix-Trench, Amanda B, Spurdle, David E, Goldgar, Miguel de la, Hoya, Paolo, Radice

المصدر: Human Mutation

مصطلحات موضوعية: BRCA2 Protein, Base Sequence, Models, Genetic, digital PCR, multifactorial likelihood analysis, Mitomycin, RNA Splicing, spliceogenic variants, Genetic Variation, Exons, BRCA2, Cell Line, Calibration, Humans, Female, Genetic Predisposition to Disease, RNA, Messenger, Research Articles, quantitative real‐time PCR, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e295a194ff0f1c6983a63b84075e2791Test
https://pubmed.ncbi.nlm.nih.gov/29460995Test