Zobrazeno 1 - 10
of 41
pro vyhledávání: '"BRCA1 Protein - genetics"'
Autor:
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
Publikováno v:
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
We multiply ascertained the BRCA1 pathogenic missense variant c.5207T > C; p.Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer families from Orkney in the Northern Isles of Scotland, UK. We sought to investigate the frequency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9a7eef7606e3ab3055c6a8b6ed8436e
https://doi.org/10.1038/s41431-023-01297-w
https://doi.org/10.1038/s41431-023-01297-w
Autor:
Lesley Fallowfield, Ivonne Solis-Trapala, Rachel Starkings, Shirley May, Lucy Matthews, Diana Eccles, D. Gareth Evans, Clare Turnbull, Gillian Crawford, Valerie Jenkins
Publikováno v:
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
Background Mainstreaming of germline testing demands that all healthcare professionals have good communication skills, but few have genetic testing and counselling experience. We developed and evaluated educational workshops—Talking about Risk & Un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34416bebad03e6ecdf50e0476151aecb
https://doi.org/10.1038/s41416-022-01871-x
https://doi.org/10.1038/s41416-022-01871-x
Autor:
Simon Grund Sørensen, Amruta Shrikhande, Gustav Alexander Poulsgaard, Mikkel Hovden Christensen, Johanna Bertl, Britt Elmedal Laursen, Eva R Hoffmann, Jakob Skou Pedersen
Publikováno v:
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.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.81224
DNA repair deficiencies in cancers may result in characteristic mutational patterns, as exemplified by deficiency of BRCA1/2 and efficacy prediction for PARP inhibitors. We trained and evaluated predictive models for loss-of-function (LOF) of 145 ind
Externí odkaz:
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
https://pure.au.dk/portal/da/publications/pancancer-association-of-dna-repair-deficiencies-with-wholegenome-mutational-patterns(6d841269-ef5f-41e2-a050-6f671e6994dd).html
Autor:
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
Publikováno v:
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/s41436-021-01198-7
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/s41436-021-01198-7
Predicció de risc de càncer de mama; Dones europees; Variant patògena heterozigota Predicción del riesgo de cáncer de mama; Mujeres europeas; Variante patógena heterocigota Breast cancer risk prediction; European women; Heterozygous pathogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fff307264df94c7ba3830c476324f06b
https://doi.org/10.1038/s41436-021-01198-7
https://doi.org/10.1038/s41436-021-01198-7
Autor:
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.
Publikováno v:
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 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, 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 Group
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63f076631390a033b9bcb1c10313c400
https://pure.au.dk/portal/da/publications/copy-number-variants-as-modifiers-of-breast-cancer-risk-for-brca1brca2-pathogenic-variant-carriers(c77e86f3-7589-478f-901e-072c531de0e5).html
https://pure.au.dk/portal/da/publications/copy-number-variants-as-modifiers-of-breast-cancer-risk-for-brca1brca2-pathogenic-variant-carriers(c77e86f3-7589-478f-901e-072c531de0e5).html
Autor:
Nicola Flaum, Emma J. Crosbie, Richard Edmondson, Emma R. Woodward, Fiona Lalloo, Miriam J. Smith, Helene Schlecht, D. Gareth Evans
Publikováno v:
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.2022.08.022
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.2022.08.022
PURPOSE: Epithelial ovarian cancer (EOC) is associated with pathogenic variants (PVs) in homologous recombination and/or mismatch repair genes. We aimed to review the testing of women with familial EOC at our center.METHODS: Women with familial EOC (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b2b68712b95d6ac7121c4d44f512146
https://pubmed.ncbi.nlm.nih.gov/36169650
https://pubmed.ncbi.nlm.nih.gov/36169650
Autor:
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
Publikováno v:
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
BACKGROUND: Poly (ADP-ribose) polymerase inhibitors combined with immunotherapy have shown antitumour activity in preclinical studies. We aimed to assess the safety and activity of olaparib in combination with the PD-L1-inhibitor, durvalumab, in pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c34416fb3adf2a299c05113cf960a2c
https://doi.org/10.1016/s1470-2045(20)30324-7
https://doi.org/10.1016/s1470-2045(20)30324-7
Autor:
Harry Begthel, Johan H. van Es, Hans Clevers, Oded Kopper, Celien P.H. Vreuls, Kadi Lõhmussaar, Jeroen Korving
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Nature Communications
Nature Communications, 11(1). Nature Publishing Group
Nature Communications
Nature Communications, 11(1). Nature Publishing Group
High-grade serous ovarian cancer (HG-SOC)—often referred to as a “silent killer”—is the most lethal gynecological malignancy. The fallopian tube (murine oviduct) and ovarian surface epithelium (OSE) are considered the main candidate tissues o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9a7f1303fbb141a1656f3962916050f
https://doaj.org/article/b561dc387d334f75b89e8a94ccc8b593
https://doaj.org/article/b561dc387d334f75b89e8a94ccc8b593
Autor:
Sophie Giraud, Noemie Lang, Solene De Talhouet, Adrien Buisson, Valeria Viassolo, S. Intidhar Labidi-Galy, Valérie Bonadona, Alexandre Bodmer, Aurélie Ayme, Alex Friedlaender, Jean-Christophe Tille, Aurelie Vuilleumier, Christine Lasset, Pierre O. Chappuis, Olivier Tredan, Isabelle Treilleux, Julien Péron
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reports
Scientific Reports, Vol. 10, No 1 (2020) P. 7073
Scientific Reports
Scientific Reports, Vol. 10, No 1 (2020) P. 7073
BRCA1/BRCA2 genes play a central role in DNA repair and their mutations increase sensitivity to DNA-damaging agents. There are conflicting data regarding the prognostic value of BRCA germline mutations in breast cancer (BC) patients. We collected cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8acd9b52ca00fe6d903afe15d9d609ac
http://link.springer.com/article/10.1038/s41598-020-63759-1
http://link.springer.com/article/10.1038/s41598-020-63759-1
Autor:
Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Alice Garrett, Chey Loveday, Miranda Durkie, Alison Callaway, George J. Burghel, James Drummond, Rachel Robinson, Ian R. Berry, Andrew Wallace, Diana M. Eccles, Marc Tischkowitz, Sian Ellard, James S. Ware, Helen Hanson, Clare Turnbull, S. Samant, A. Lucassen, A. Znaczko, A. Shaw, A. Ansari, A. Kumar, A. Donaldson, A. Murray, A. Ross, A. Taylor-Beadling, A. Taylor, A. Innes, A. Brady, A. Kulkarni, A.-C. Hogg, A. Ramsay Bowden, A. Hadonou, B. Coad, B. McIldowie, B. Speight, B. DeSouza, B. Mullaney, C. McKenna, C. Brewer, C. Olimpio, C. Clabby, C. Crosby, C. Jenkins, C. Armstrong, C. Bowles, C. Brooks, C. Byrne, C. Maurer, D. Baralle, D. Chubb, D. Stobo, D. Moore, D. O'Sullivan, D. Donnelly, D. Randhawa, D. Halliday, E. Atkinson, E. Baple, E. Rauter, E. Johnston, E. Woodward, E. Maher, E. Sofianopoulou, E. Petrides, F. Lalloo, F. McRonald, F. Pelz, I. Frayling, G. Evans, G. Corbett, G. Rea, H. Clouston, H. Powell, H. Williamson, H. Carley, H.J.W. Thomas, I. Tomlinson, J. Cook, J. Hoyle, J. Tellez, J. Whitworth, J. Williams, J. Murray, J. Campbell, J. Tolmie, J. Field, J. Mason, J. Burn, J. Bruty, J. Callaway, J. Grant, J. Del Rey Jimenez, J. Pagan, J. VanCampen, J. Barwell, K. Monahan, K. Tatton-Brown, K.-R. Ong, K. Murphy, K. Andrews, K. Mokretar, K. Cadoo, K. Smith, K. Baker, K. Brown, K. Reay, K. McKay Bounford, K. Bradshaw, K. Russell, K. Stone, K. Snape, L. Crookes, L. Reed, L. Taggart, L. Yarram, L. Cobbold, L. Walker, L. Hawkes, L. Busby, L. Izatt, L. Kiely, L. Hughes, L. Side, L. Sarkies, K.-L. Greenhalgh, M. Shanmugasundaram, M. Duff, M. Bartlett, M. Watson, M. Owens, M. Bradford, M. Huxley, M. Slean, M. Ryten, M. Smith, M. Ahmed, N. Roberts, C. O'Brien, O. Middleton, P. Tarpey, P. Logan, P. Dean, P. May, P. Brace, R. Tredwell, R. Harrison, R. Hart, R. Kirk, R. Martin, R. Nyanhete, R. Wright, R. Davidson, R. Cleaver, S. Talukdar, S. Butler, J. Sampson, S. Ribeiro, S. Dell, S. Mackenzie, S. Hegarty, S. Albaba, S. McKee, S. Palmer-Smith, S. Heggarty, S. MacParland, S. Greville-Heygate, S. Daniels, S. Prapa, S. Abbs, S. Tennant, S. Hardy, S. MacMahon, T. McVeigh, T. Foo, T. Bedenham, T. Cranston, T. McDevitt, V. Clowes, V. Tripathi, V. McConnell, N. Woodwaer, Y. Wallis, Z. Kemp, G. Mullan, L. Pierson, L. Rainey, C. Joyce, A. Timbs, A.-M. Reuther, B. Frugtniet, C. Husher, C. Lawn, C. Corbett, D. Nocera-Jijon, D. Reay, E. Cross, F. Ryan, H. Lindsay, J. Oliver, J. Dring, J. Spiers, J. Harper, K. Ciucias, L. Connolly, M. Tsang, R. Brown, S. Shepherd, S. Begum, T. Tadiso, T. Linton-Willoughby, H. Heppell, K. Sahan, L. Worrillow, Z. Allen, M. Barlett, C. Watt, M. Hegarty
Publikováno v:
Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A & CanVIG-UK 2021, ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 3, pp. 552-563 . https://doi.org/10.1016/j.gim.2021.11.011
Purpose: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a638418e559b935daf78b3ef4e1f05a
http://hdl.handle.net/10044/1/95227
http://hdl.handle.net/10044/1/95227