Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Autor: Hakkaart, Christopher, Pearson, John F, Marquart, Louise, Dennis, Joe, Wiggins, George AR, 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 BM, GEMO Study Collaborators, EMBRACE Collaborators, 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 VO, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J, Imyanitov, Evgeny N, SWE-BRCA Investigators, KConFab Investigators, HEBON Investigators, 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 WM, 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

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___::444b9427cde6163d24f6adc68f9fbbc1

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

Autor: Robinson, Philip S, Thomas, Laura E, Abascal, Federico, Jung, Hyunchul, Harvey, Luke MR, West, Hannah D, Olafsson, Sigurgeir, Lee, Bernard CH, Coorens, Tim HH, Lee-Six, Henry, Butlin, Laura, Lander, Nicola, Truscott, Rebekah, Sanders, Mathijs A, Lensing, Stefanie V, Buczacki, Simon JA, Ten Hoopen, Rogier, Coleman, Nicholas, Brunton-Sim, Roxanne, Rushbrook, Simon, Saeb-Parsy, Kourosh, Lalloo, Fiona, Campbell, Peter J, Martincorena, Iñigo, Sampson, Julian R, Stratton, Michael R

Publikováno v: Nature Communications
Nature Communications, 13(1):3949. Nature Publishing Group

Cellular DNA damage caused by reactive oxygen species is repaired by the base excision repair (BER) pathway which includes the DNA glycosylase MUTYH. Inherited biallelic MUTYH mutations cause predisposition to colorectal adenomas and carcinoma. Howev

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http://www.scopus.com/inward/record.url?scp=85133717829&partnerID=8YFLogxK

Genomic landscape of platinum resistant and sensitive testicular cancers

Autor: Alex J. Cornish, Barbara Benton, Chey Loveday, Robert Huddart, James D. Brenton, Paula Proszek, Max Levy, Clare Turnbull, Peter Broderick, Charles Swanton, Richard S. Houlston, Janet Shipley, Maise Al Bakir, Kevin Litchfield, Emily Grist, Simon Chowdhury, Flavia Santo, Amy Holryod, Crispin T. Hiley, Alison Reid, Thomas Powles, Simon O'Connor, Geoff Macintyre, David Gonzalez de Castro, Darshna Dudakia

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Loveday, C, Litchfield, K, Proszek, P Z, Cornish, A J, Santo, F, Levy, M, Macintyre, G, Holryod, A, Broderick, P, Dudakia, D, Benton, B, Bakir, M A, Hiley, C, Grist, E, Swanton, C, Huddart, R, Powles, T, Chowdhury, S, Shipley, J, O'Connor, S, Brenton, J D, Reid, A, de Castro, D G, Houlston, R S & Turnbull, C 2020, ' Genomic landscape of platinum resistant and sensitive testicular cancers ', Nature Communications, vol. 11, no. 1, pp. 2189 . https://doi.org/10.1038/s41467-020-15768-x
Nature Communications

While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and copy number analysis in 40 tu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1789f79b12d7d9b07bc409f33de7c6b6
http://link.springer.com/article/10.1038/s41467-020-15768-x

CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Autor: Johnson, Nichola, Maguire, Sarah, Morra, Anna, Kapoor, Pooja Middha, Tomczyk, Katarzyna, Jones, Michael E., Schoemaker, Minouk J., Gilham, Clare, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Baynes, Caroline, Freeman, Laura E. Beane, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Campa, Daniele, Canzian, Federico, Castelao, Jose E., Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Dörk, Thilo, Eliassen, A. Heather, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Floris, Giuseppe, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M., García-Closas, Montserrat, Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., Hooning, Maartje J., Hopper, John L., Howell, Anthony, Hunter, David J., Jager, Agnes, Jakubowska, Anna, John, Esther M., Kaaks, Rudolf, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M., Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kurian, Allison W., Lambrechts, Diether, Le Marchand, Loic, Linet, Martha, Lubiński, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mavroudis, Dimitrios, Mayes, Rebecca, Meindl, Alfons, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Nielsen, Sune F., Nordestgaard, Børge G., Obi, Nadia, Olshan, Andrew F., Olson, Janet E., Olsson, Håkan, Orban, Ester, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Pylkäs, Katri, Rennert, Gad, Rennert, Hedy S., Ruddy, Kathryn J., Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmutzler, Rita K., Scott, Christopher, Shu, Xiao-Ou, Simard, Jacques, Smichkoska, Snezhana, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Tamimi, Rulla M., Taylor, Jack A., Tollenaar, Rob A. E. M., Tomlinson, Ian, Troester, Melissa A., Truong, Thérèse, Vachon, Celine M., van Veen, Elke M., Wang, Sophia S., Weinberg, Clarice R., Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D. P., Easton, Douglas F., Howie, A. Forbes, Peto, Julian, dos-Santos-Silva, Isabel, Swerdlow, Anthony J., Chang-Claude, Jenny, Schmidt, Marjanka K., Orr, Nick, Fletcher, Olivia, Børresen-Dale, Anne-Lise, Alnæs, Grethe I. Grenaker, Sahlberg, Kristine K., Ottestad, Lars, Kåresen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebråten, Olav, Naume, Bjørn, Fosså, Alexander, Kiserud, Cecile E., Reinertsen, Kristin V., Helland, Åslaug, Riis, Margit, Geisler, Jürgen, Bowtell, David D. L., deFazio, Anna, Webb, Penelope M., Clarke, Christine, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, Sachchithananthan, Mythily, Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Chauhan, Deepa, Chauhan, Manisha, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edkins, Ted, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, Meiser, Bettina, Milne, Roger, Nightingale, Sophie, O’Connell, Shona, O’Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Scott, Clare, Sexton, Adrienne, Shelling, Andrew, Southey, Melissa, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann

Publikováno v: NBCS Collaborators 2021, ' CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers ', British Journal of Cancer, vol. 124, no. 4, pp. 842-854 . https://doi.org/10.1038/s41416-020-01185-w
British Journal of Cancer
British Journal of Cancer, 124(4), 842-854. SPRINGERNATURE
Johnson, N, Maguire, S, Morra, A, Kapoor, P M, Tomczyk, K, Jones, M E, Schoemaker, M J, Gilham, C, Bolla, M K, Wang, Q, Dennis, J, Ahearn, T U, Andrulis, I L, Anton-culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Augustinsson, A, Baynes, C, Freeman, L E B, Beckmann, M W, Benitez, J, Bermisheva, M, Blomqvist, C, Boeckx, B, Bogdanova, N V, Bojesen, S E, Brauch, H, Brenner, H, Burwinkel, B, Campa, D, Canzian, F, Castelao, J E, Chanock, S J, Chenevix-trench, G, Clarke, C L, Conroy, D M, Couch, F J, Cox, A, Cross, S S, Czene, K, Dörk, T, Eliassen, A H, Engel, C, Evans, D G, Fasching, P A, Figueroa, J, Floris, G, Flyger, H, Gago-dominguez, M, Gapstur, S M, García-closas, M, Gaudet, M M, Giles, G G, Goldberg, M S, González-neira, A, Guénel, P, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hart, S N, Hooning, M J, Hopper, J L, Howell, A, Hunter, D J, Jager, A, Jakubowska, A, John, E M, Kaaks, R, Keeman, R, Khusnutdinova, E, Kitahara, C M, Kosma, V, Koutros, S, Kraft, P, Kristensen, V N, Kurian, A W, Lambrechts, D, Le Marchand, L, Linet, M, Lubiński, J, Mannermaa, A, Manoukian, S, Margolin, S, Martens, J W M, Mavroudis, D, Mayes, R, Meindl, A, Milne, R L, Neuhausen, S L, Nevanlinna, H, Newman, W G, Nielsen, S F, Nordestgaard, B G, Obi, N, Olshan, A F, Olson, J E, Olsson, H, Orban, E, Park-simon, T, Peterlongo, P, Plaseska-karanfilska, D, Pylkäs, K, Rennert, G, Rennert, H S, Ruddy, K J, Saloustros, E, Sandler, D P, Sawyer, E J, Schmutzler, R K, Scott, C, Shu, X, Simard, J, Smichkoska, S, Sohn, C, Southey, M C, Spinelli, J J, Stone, J, Tamimi, R M, Taylor, J A, Tollenaar, R A E M, Tomlinson, I, Troester, M A, Truong, T, Vachon, C M, Van Veen, E M, Wang, S S, Weinberg, C R, Wendt, C, Wildiers, H, Winqvist, R, Wolk, A, Zheng, W, Ziogas, A, Dunning, A M, Pharoah, P D P, Easton, D F, Howie, A F, Peto, J, Dos-santos-silva, I, Swerdlow, A J, Chang-claude, J, Schmidt, M K, Orr, N & Fletcher, O 2021, ' CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers ', British Journal of Cancer . https://doi.org/10.1038/s41416-020-01185-w
British Journal of Cancer, 124(4), 842-854. Nature Publishing Group
Johnson, N, Maguire, S, Morra, A, Kapoor, P M, Tomczyk, K, Jones, M E, Schoemaker, M J, Gilham, C, Bolla, M K, Wang, Q, Dennis, J, Ahearn, T U, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Augustinsson, A, Baynes, C, Freeman, L E B, Beckmann, M W, Benitez, J, Bermisheva, M, Blomqvist, C, Boeckx, B, Bogdanova, N V, Bojesen, S E, Brauch, H, Brenner, H, Burwinkel, B, Campa, D, Canzian, F, Castelao, J E, Chanock, S J, Chenevix-Trench, G, Clarke, C L, Børresen-Dale, A L, Alnæs, G I G, Sahlberg, K K, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, M M, Sauer, T, Haakensen, V, Riis, M, Flyger, H, Nielsen, S F, Nordestgaard, B G, Scott, C, NBCS Collaborators, AOCS Group, ABCTB Investigators & kConFab Investigators 2021, ' CYP3A7*1C allele : linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers ', British Journal of Cancer, vol. 124, no. 4, pp. 842-854 . https://doi.org/10.1038/s41416-020-01185-w

Background Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary sex-hormone levels and brea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79c80976e607f7f5adac25ce2443816d
https://pure.qub.ac.uk/en/publications/63fe40f3-a1a4-4f39-891d-c488d88096e8

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Autor: Georgia Chenevix-Trench, Tjoung-Won Park-Simon, David J. Hunter, Lauren R. Teras, Harald Surowy, Rulla M. Tamimi, Jaana M. Hartikainen, Fergus J. Couch, Heli Nevanlinna, Celine M. Vachon, Per Hall, Arif B. Ekici, Vessela N. Kristensen, Ute Hamann, Alpa V. Patel, Christopher A. Haiman, Sander Canisius, Jonathan Beesley, Sara Margolin, Hedy S. Rennert, Thilo Dörk, Paolo Peterlongo, Hoda Anton-Culver, Matthias W. Beckmann, Renske Keeman, Christopher G. Scott, Rudolf Kaaks, Melissa C. Southey, Atocha Romero, Stig E. Bojesen, Graham G. Giles, Federico Canzian, Rebecca Roylance, Stephen J. Chanock, Loic Le Marchand, Eric Hahnen, Robert Winqvist, Mervi Grip, Taru A. Muranen, A. Heather Eliassen, Ian Tomlinson, Anna Jakubowska, Emilie Thomas, Douglas F. Easton, William Jacot, Paul D.P. Pharoah, Elinor J. Sawyer, Linetta B. Koppert, Manuela Gago-Dominguez, Anthony J. Swerdlow, Matthias Ruebner, Joe Dennis, Alison M. Dunning, Esther M. John, Elza Khusnutdinova, Melanie Gündert, Kamila Czene, Dimitrios Mavroudis, Henrik Flyger, Minouk J. Schoemaker, Manjeet K. Bolla, Rita K. Schmutzler, Jenny Chang-Claude, Kyriaki Michailidou, Håkan Olsson, John L. Hopper, Marjanka K. Schmidt, Melissa A. Troester, Audrey Y. Jung, Maria Escala-Garcia, Bernadette A M Heemskerk-Gerritsen, Argyrios Ziogas, Thomas Rüdiger, Antoinette Hollestelle, José A. García-Sáenz, Marina Bermisheva, Alicja Wolk, Volker Arndt, Robert N. Luben, Mary B. Daly, Niclas Håkansson, Jan Lubinski, Jose E. Castelao, Emmanouil Saloustros, Jürgen Geisler, Qin Wang, Paolo Radice, Gad Rennert, Thomas Bachelot, Sabine Behrens, Peter Kraft, Arto Mannermaa, Heiko Becher, Annika Lindblom, Annelie Augustinsson, Andrew F. Olshan, Mehdi Manoochehri, Peter A. Fasching, Allison W. Kurian, Hermann Brenner, Reiner Hoppe, Montserrat Garcia-Closas, Diether Lambrechts, Kevin Punie, Peter Devilee

Publikováno v: Scientific Reports, 11(1). Nature Publishing Group
Escala-Garcia, M, Canisius, S, Keeman, R, Beesley, J, Anton-Culver, H, Arndt, V, Augustinsson, A, Becher, H, Beckmann, M W, Behrens, S, Bermisheva, M, Bojesen, S E, Bolla, M K, Brenner, H, Canzian, F, Castelao, J E, Chang-Claude, J, Chanock, S J, Couch, F J, Czene, K, Daly, M B, Dennis, J, Devilee, P, Dörk, T, Dunning, A M, Easton, D F, Ekici, A B, Eliassen, A H, Fasching, P A, Flyger, H, Gago-Dominguez, M, García-Closas, M, García-Sáenz, J A, Geisler, J, Giles, G G, Grip, M, Gündert, M, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Hartikainen, J M, Heemskerk-Gerritsen, B A M, Hollestelle, A, Hoppe, R, Hopper, J L, Luben, R N, Scott, C, Wang, Q & kConFab/AOCS Investigators 2021, ' Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis ', Scientific Reports, vol. 11, no. 1, 19787 . https://doi.org/10.1038/s41598-021-99409-3
Scientific Reports, 11(1). NATURE PORTFOLIO
Sci. Rep. 11:19787 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Scientific Reports

Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c89658a353a014d4e6fa890a4b9e7a59
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-457857