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Journal Article
Colombo, Mara ORCID: 0000-0001-5465-354X, Lopez-Perolio, Irene, Meeks, Huong D., Caleca, Laura
ORCID: 0000-0002-3381-7493, Parsons, Michael T., Li, Hongyan, De Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Behar, Raquel, Garcia, Encarna B. Gomez, Meindl, Alfons, Montagna, Marco, Niederacher, Dieter, Schmidt, Ane Y., Varesco, Liliana
ORCID: 0000-0003-4871-6668, Wappenschmidt, Barbara, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki
ORCID: 0000-0001-7065-1237, Wang, Qin, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker
ORCID: 0000-0001-9320-8684, Beckmann, Matthias W., Beeghly-Fadel, Alicia, Benitez, Javier, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brauch, Hiltrud
ORCID: 0000-0001-7531-2736, Brenner, Hermann
ORCID: 0000-0002-6129-1572, Burwinkel, Barbara, Chang-Claude, Jenny, Conroy, Don M., Couch, Fergus J., Cox, Angela
ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Devilee, Peter, Dork, Thilo
ORCID: 0000-0002-9458-0282, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia
ORCID: 0000-0001-9387-7116, Flyger, Henrik, Gabrielson, Marike
ORCID: 0000-0002-3171-1556, Garcia-Closas, Montserrat, Giles, Graham G., Gonzalez-Neira, Anna
ORCID: 0000-0002-5421-2020, Guenel, Pascal
ORCID: 0000-0002-8359-518X, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael
ORCID: 0000-0001-5726-9965, Hauke, Jan, Hollestelle, Antoinette, Hopper, John L., Jakubowska, Anna
ORCID: 0000-0002-5650-0501, Jung, Audrey
ORCID: 0000-0003-0875-6673, Kosma, Veli-Matti, Lambrechts, Diether
ORCID: 0000-0002-3429-302X, Le Marchand, Loid, Lindblom, Annika, Lubinski, Jan
ORCID: 0000-0003-2931-3003, Mannermaa, Arto, Margolin, Sara, Miao, Hui, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Peterlongo, Paolo
ORCID: 0000-0001-6951-6855, Peto, Julian, Pylkas, Katri
ORCID: 0000-0002-2449-0521, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., See, Mee Hoong
ORCID: 0000-0002-3966-3368, Southey, Melissa C., Swerdlow, Anthony
ORCID: 0000-0001-5550-4159, Teo, Soo H., Toland, Amanda E., Tomlinson, Ian, Truong, Therese, van Asperen, Christi J., van den Ouweland, Ans M. W., van der Kolk, Lizet E., Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, Dunning, Alison M., Easton, Douglas F., Henderson, Alex, Hogervorst, Frans B. L., Izatt, Louise, Offitt, Kenneth, Side, Lucy E., van Rensburg, Elizabeth J., McGuffog, Lesley, Antoniou, Antonis C., Chenevix-Trench, Georgia
ORCID: 0000-0002-1878-2587, Spurdle, Amanda B., Goldgar, David E., de la Hoya, Miguel
ORCID: 0000-0002-8113-1410 and Radice, Paolo
ORCID: 0000-0001-6298-4111
(2018).
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Hum. Mutat., 39 (5).
S. 729 - 742.
HOBOKEN:
WILEY.
ISSN 1098-1004
Meeks, Huong D., Song, Honglin, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Barrowdale, Daniel
ORCID: 0000-0003-1661-3939, Frost, Debra, McGuffog, Lesley, Ellis, Steve, Feng, Bingjian, Buys, Saundra S., Hopper, John L., Southey, Melissa C., Tesoriero, Andrea, James, Paul A., Bruinsma, Fiona, Campbell, Ian G., Broeks, Annegien, Schmidt, Marjanka K., Hogervorst, Frans B. L., Beckman, Matthias W., Fasching, Peter A., Fletcher, Olivia
ORCID: 0000-0001-9387-7116, Johnson, Nichola, Sawyer, Elinor J., Riboli, Elio, Banerjee, Susana, Menon, Usha
ORCID: 0000-0003-3708-1732, Tomlinson, Ian, Burwinkel, Barbara, Hamann, Ute, Marme, Frederik, Rudolph, Anja, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Garber, Judy, Cramer, Daniel, Terry, Kathryn L., Poole, Elizabeth M., Tworoger, Shelley S., Dorfling, Cecilia M., van Rensburg, Elizabeth J., Godwin, Andrew K., Guenel, Pascal
ORCID: 0000-0002-8359-518X, Truong, Therese, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Mazoyer, Sylvie
ORCID: 0000-0002-2135-0160, Sinilnikova, Olga M., Isaacs, Claudine, Maugard, Christine, Bojesen, Stig E., Flyger, Henrik, Gerdes, Anne-Marie
ORCID: 0000-0002-0328-3320, Hansen, Thomas V. O., Jensen, Allen, Kjaer, Susanne K., Hogdall, Claus
ORCID: 0000-0002-5959-8874, Hogdall, Estrid
ORCID: 0000-0003-4689-5658, Pedersen, Inge Sokilde
ORCID: 0000-0002-9902-8040, Thomassen, Mads, Benitez, Javier, Gonzalez-Neira, Anna
ORCID: 0000-0002-5421-2020, Osorio, Ana
ORCID: 0000-0001-8124-3984, de la Hoya, Miguel
ORCID: 0000-0002-8113-1410, Perez Segura, Pedro, Diez, Orland, Lazaro, Conxi, Brunet, Joan
ORCID: 0000-0003-1945-3512, Anton-Culver, Hoda, Eunjung, Lee, John, Esther M., Neuhausen, Susan L., Ding, Yuan Chun, Castillo, Danielle, Weitzel, Jeffrey N., Ganz, Patricia A., Nussbaum, Robert L., Chan, Salina B., Karlan, Beth Y., Lester, Jenny, Wu, Anna, Gayther, Simon, Ramus, Susan J., Sieh, Weiva, Whittermore, Alice S., Monteiro, Alvaro N. A.
ORCID: 0000-0002-8448-4801, Phelan, Catherine M., Terry, Mary Beth, Piedmonte, Marion, Offit, Kenneth, Robson, Mark, Levine, Douglas, Moysich, Kirsten B., Cannioto, Rikki, Olson, Sara H., Daly, Mary B., Nathanson, Katherine L., Domchek, Susan M., Lu, Karen H., Liang, Dong, Hildebrant, Michelle A. T., Ness, Roberta, Modugno, Francesmary, Pearce, Leigh, Goodman, Marc T., Thompson, Pamela J., Brenner, Hermann
ORCID: 0000-0002-6129-1572, Butterbach, Katja, Meindl, Alfons, Hahnen, Eric, Wappenschmidt, Barbara, Brauch, Hiltrud
ORCID: 0000-0001-7531-2736, Bruening, Thomas, Blomqvist, Carl
ORCID: 0000-0003-3041-1938, Khan, Sofia
ORCID: 0000-0003-4185-8882, Nevanlinna, Heli, Pelttari, Liisa M., Aittomaeki, Kristiina, Butzow, Ralf, Bogdanova, Natalia V., Doerk, Thilo, Lindblom, Annika, Margolin, Sara, Rantala, Johanna, Kosma, Veli-Matti, Mannermaa, Arto, Lambrechts, Diether
ORCID: 0000-0002-3429-302X, Neven, Patrick, Claes, Kathleen B. M., Van Maerken, Tom, Chang-Claude, Jenny, Flesch-Janys, Dieter, Heitz, Florian
ORCID: 0000-0002-2412-0352, Varon-Mateeva, Raymonda, Peterlongo, Paolo
ORCID: 0000-0001-6951-6855, Radice, Paolo
ORCID: 0000-0001-6298-4111, Viel, Alessandra
ORCID: 0000-0003-2804-0840, Barile, Monica, Peissel, Bernard
ORCID: 0000-0001-9233-3571, Manoukian, Siranoush, Montagna, Marco, Oliani, Cristina, Peixoto, Ana
ORCID: 0000-0002-1404-5897, Teixeira, Manuel R., Collavoli, Anita, Hallberg, Emily, Olson, Janet E., Goode, Ellen L., Hart, Steven N., Shimelis, Hermela, Cunningham, Julie M., Giles, Graham G., Milne, Roger L., Healey, Sue, Tucker, Kathy, Haiman, Christopher A., Henderson, Brian E., Goldberg, Mark S., Tischkowitz, Marc
ORCID: 0000-0002-7880-0628, Simard, Jacques, Soucy, Penny, Eccles, Diana M., Le, Nhu, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Salvesen, Helga B., Bjorge, Line
ORCID: 0000-0002-0240-2770, Bandera, Elisa V., Risch, Harvey, Zheng, Wei
ORCID: 0000-0003-1226-070X, Beeghly-Fadiel, Alicia, Cai, Hui, Pylkas, Katri
ORCID: 0000-0002-2449-0521, Tollenaar, Robert A. E. M., van der Ouweland, Ans M. W., Andrulis, Irene L., Knight, Julia A., Narod, Steven, Devilee, Peter
ORCID: 0000-0002-8023-2009, Winqvist, Robert, Figueroa, Jonine, Greene, Mark H., Mai, Phuong L., Loud, Jennifer T., Garcia-Closas, Montserrat, Schoemaker, Minouk J., Czene, Kamila, Darabi, Hatef, McNeish, Iain
ORCID: 0000-0002-9387-7586, Siddiquil, Nadeem, Glasspool, Rosalind
ORCID: 0000-0002-5000-1680, Kwong, Ava
ORCID: 0000-0002-6968-9489, Park, Sue K., Teo, Soo Hwang, Yoon, Sook-Yee, Matsuo, Keitaro
ORCID: 0000-0003-1761-6314, Hosono, Satoyo, Woo, Yin Ling
ORCID: 0000-0003-1742-1066, Gao, Yu-Tang, Foretova, Lenka, Singer, Christian F., Rappaport-Feurhauser, Christine, Friedman, Eitan, Laitman, Yael, Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Olopade, Olufunmilayo I., Senter, Leigha, Olah, Edith, Doherty, Jennifer A., Schildkraut, Joellen, Koppert, Linetta B., Kiemeney, Lambertus A.
ORCID: 0000-0002-2368-1326, Massuger, Leon F. A. G., Cook, Linda S., Pejovic, Tanja, Li, Jingmei
ORCID: 0000-0001-8587-7511, Borg, Ake, Ofverholm, Anna, Rossing, Mary Anne, Wentzensen, Nicolas, Henriksson, Karin, Cox, Angela
ORCID: 0000-0002-5138-1099, Cross, Simon S., Pasini, Barbara J., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna
ORCID: 0000-0002-5650-0501, Lubinski, Jan
ORCID: 0000-0003-2931-3003, Gronwald, Jacek
ORCID: 0000-0002-3643-2871, Agnarsson, Bjarni A., Kupryjanczyk, Jolanta
ORCID: 0000-0001-5820-0214, Moes-Sosnowska, Joanna
ORCID: 0000-0003-1706-8290, Fostira, Florentia, Konstantopoulou, Irene
ORCID: 0000-0002-0470-0309, Slager, Susan, Jones, Michael
ORCID: 0000-0001-7479-3451, Antoniou, Antonis C., Berchuck, Andrew, Swerdlow, Anthony
ORCID: 0000-0001-5550-4159, Chenevix-Trench, Georgia
ORCID: 0000-0002-1878-2587, Dunning, Alison M., Pharoah, Paul D. P., Hall, Per, Easton, Douglas F., Couch, Fergus J., Spurdle, Amanda B. and Goldgar, David E.
(2016).
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
JNCI-J. Natl. Cancer Inst., 108 (2).
CARY:
OXFORD UNIV PRESS INC.
ISSN 1460-2105
Moghadasi, Setareh, Meeks, Huong D., Vreeswijk, Maaike P. G., Janssen, Linda A. M., Borg, Ake, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph
ORCID: 0000-0002-7247-282X, Gehrig, Andrea, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk
ORCID: 0000-0002-6205-6355, Kruse, Torben A., Ejlertsen, Bent, Gerdes, Anne-Marie
ORCID: 0000-0002-0328-3320, Pedersen, Inge Sokilde, Caputo, Sandrine M., Couch, Fergus, Hallberg, Emily J., van den Ouweland, Ans M. W., Collee, Margriet J., Teugels, Erik
ORCID: 0000-0002-7828-4555, Adank, Muriel A., van der Luijt, Rob B., Mensenkamp, Arjen R., Oosterwijk, Jan C., Blok, Marinus J., Janin, Nicolas, Claes, Kathleen B. M., Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E., Devilee, Peter
ORCID: 0000-0002-8023-2009, Van Asperen, Christie J., Spurdle, Amanda B., Goldgar, David E. and Garcia, Encarna Gomez
(2018).
The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J. Med. Genet., 55 (1).
S. 15 - 21.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
de la Hoya, Miguel ORCID: 0000-0002-8113-1410, Soukarieh, Omar
ORCID: 0000-0003-4923-4353, Lopez-Perolio, Irene, Vega, Ana, Walker, Logan C., van Ierland, Yvette, Baralle, Diana
ORCID: 0000-0003-3217-4833, Santamarina, Marta, Lattimore, Vanessa, Wijnen, Juul, Whiley, Philip, Blanco, Ana, Raponi, Michela, Hauke, Jan, Wappenschmidt, Barbara, Becker, Alexandra, Hansen, Thomas V. O., Behar, Raquel, Niederacher, Diether, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Dworniczak, Bernd, Steinemann, Doris, Faust, Ulrike, Rubinstein, Wendy, Hulick, Peter J., Houdayer, Claude, Caputo, Sandrine M., Castera, Laurent, Pesaran, Tina, Chao, Elizabeth, Brewer, Carole, Southey, Melissa C., van Asperen, Christi J., Singer, Christian F., Sullivan, Jan, Poplawski, Nicola, Peto, Julian, Johnson, Nichola, Burwinkel, Barbara, Surowy, Harald
ORCID: 0000-0002-3595-9188, Bojesen, Stig E., Flyger, Henrik, Lindblom, Annika, Margolin, Sara, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo
ORCID: 0000-0001-6298-4111, Galastri, Laura, Olson, Janet E., Hallberg, Emily, Giles, GrahamG., Milne, Roger L., Andrulis, Irene L., Glendon, Gord, Hall, Per, Czene, Kamila, Blows, Fiona, Shah, Mitul, Wang, Qin, Dennis, Joe, Michailidou, Kyriaki
ORCID: 0000-0001-7065-1237, McGuffog, Lesley, Bolla, Manjeet K., Antoniou, Antonis C., Easton, Douglas F., Couch, Fergus J., Tavtigian, Sean, Vreeswijk, Maaike P., Parsons, Michael
ORCID: 0000-0003-3242-8477, Meeks, Huong D., Martins, Alexandra
ORCID: 0000-0003-4322-8497, Goldgar, David E. and Spurdle, Amanda B.
(2016).
Combined genetic and splicing analysis of BRCA1 c.[594-2A > C; 641A > G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum. Mol. Genet., 25 (11).
S. 2256 - 2269.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083