دورية أكاديمية
Two truncating variants in FANCC and breast cancer risk
| العنوان: | Two truncating variants in FANCC and breast cancer risk |
|---|---|
| المؤلفون: | Dörk, Thilo, Peterlongo, Paolo, Mannermaa, Arto, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Ahearn, Thomas, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristian J., Augustinsson, Annelie, Freeman, Laura E. Beane, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Behrens, Sabine, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Canzian, Federico, Chan, Tsun L., Chang-Claude, Jenny, Chanock, Stephen J., Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., Couch, Fergus J., Czene, Kamila, Daly, Mary B., dos-Santos-Silva, Isabel, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M., García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., Goldgar, David E., Guenel, Pascal, Haeberle, Lothar, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Hartman, Mikael, Hauke, Jan, Hein, Alexander, Hillemanns, Peter, Hogervorst, Frans B.L., Hooning, Maartje J., Hopper, John L., Howell, Tony, Huo, Dezheng, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Kapoor, Pooja Middha, Khusnutdinova, Elza, Kim, Sung-Won, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kwong, Ava, Lambrechts, Diether, Le Marchand, Loïc, Li, Jingmei, Lindström, Sara, Linet, Martha, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Lubiński, Jan, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Elena, Matsuo, Keitaro, Mavroudis, Dimitris, Meindl, Alfons, Menon, Usha, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Mulligan, Anna Marie, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Offit, Kenneth, Olopade, Olufunmilayo I., Olshan, Andrew F., Olson, Janet E., Olsson, Håkan, Park, Sue K., Park-Simon, Tjoung-Won, Peto, Julian, Plaseska-Karanfilska, Dijana, Pohl-Rescigno, Esther, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Rashid, Muhammad Usman, Rennert, Gad, Rennert, Hedy S., Romero, Atocha, Ruebner, Matthias, Saloustros, Emmanouil, Schmidt, Marjanka K., Schmutzler, Rita K., Schneider, Michael O., Schoemaker, Minouk J., Scott, Christopher, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Slager, Susan, Smichkoska, Snezhana, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Teo, Soo H., Terry, Mary Beth, Toland, Amanda E., Tollenaar, Robert A.E.M., Torres, Diana, Torres-Mejía, Gabriela, Troester, Melissa A., Truong, Thérèse, Tsugane, Shoichiro, Untch, Michael, Vachon, Celine M., van den Ouweland, Ans M.W., van Veen, Elke M., Vijai, Joseph, Wendt, Camilla, Wolk, Alicja, Yu, Jyh-Cherng, Zheng, Wei, Ziogas, Argyrios, Ziv, Elad, Dunning, Alison M., Pharoah, Paul D.P., Schindler, Detlev, Devilee, Peter, Easton, Douglas F. |
| المصدر: | 2045-2322. |
| سنة النشر: | 2019 |
| المجموعة: | Universitet i Oslo: Digitale utgivelser ved UiO (DUO) |
| الوصف: | Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44–1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | EC/H2020/634935 and 633784; NFR/grant 193387/V50 og grant 193387/H10; http://urn.nb.no/URN:NBN:no-79698Test; Dörk, Thilo Peterlongo, Paolo Mannermaa, Arto Bolla, Manjeet K. Wang, Qin Dennis, Joe Ahearn, Thomas Andrulis, Irene L. Anton-Culver, Hoda Arndt, Volker Aronson, Kristian J. Augustinsson, Annelie Freeman, Laura E. Beane Beckmann, Matthias W. Beeghly-Fadiel, Alicia Behrens, Sabine Bermisheva, Marina Blomqvist, Carl Bogdanova, Natalia V. Bojesen, Stig E. Brauch, Hiltrud Brenner, Hermann Burwinkel, Barbara Canzian, Federico Chan, Tsun L. Chang-Claude, Jenny Chanock, Stephen J. Choi, Ji-Yeob Christiansen, Hans Clarke, Christine L. Couch, Fergus J. Czene, Kamila Daly, Mary B. dos-Santos-Silva, Isabel Dwek, Miriam Eccles, Diana M. Ekici, Arif B. Eriksson, Mikael Evans, D. Gareth Fasching, Peter A. Figueroa, Jonine Flyger, Henrik Fritschi, Lin Gabrielson, Marike Gago-Dominguez, Manuela Gao, Chi Gapstur, Susan M. García-Closas, Montserrat García-Sáenz, José A. Gaudet, Mia M. Giles, Graham G. Goldberg, Mark S. Goldgar, David E. Guenel, Pascal Haeberle, Lothar Haiman, Christopher A. Håkansson, Niclas Hall, Per Hamann, Ute Hartman, Mikael Hauke, Jan Hein, Alexander Hillemanns, Peter Hogervorst, Frans B.L. Hooning, Maartje J. Hopper, John L. Howell, Tony Huo, Dezheng Ito, Hidemi Iwasaki, Motoki Jakubowska, Anna Janni, Wolfgang John, Esther M. Jung, Audrey Kaaks, Rudolf Kang, Daehee Kapoor, Pooja Middha Khusnutdinova, Elza Kim, Sung-Won Kitahara, Cari M. Koutros, Stella Kraft, Peter Kristensen, Vessela N. Kwong, Ava Lambrechts, Diether Le Marchand, Loïc Li, Jingmei Lindström, Sara Linet, Martha Lo, Wing-Yee Long, Jirong Lophatananon, Artitaya Lubiński, Jan Manoochehri, Mehdi Manoukian, Siranoush Margolin, Sara Martinez, Elena Matsuo, Keitaro Mavroudis, Dimitris Meindl, Alfons Menon, Usha Milne, Roger L. Mohd Taib, Nur Aishah Muir, Kenneth Mulligan, Anna Marie Neuhausen, Susan L. Nevanlinna, Heli Neven, Patrick Newman, William G. Offit, Kenneth Olopade, Olufunmilayo I. Olshan, Andrew F. Olson, Janet E. Olsson, Håkan Park, Sue K. Park-Simon, Tjoung-Won Peto, Julian Plaseska-Karanfilska, Dijana Pohl-Rescigno, Esther Presneau, Nadege Rack, Brigitte Radice, Paolo Rashid, Muhammad Usman Rennert, Gad Rennert, Hedy S. Romero, Atocha Ruebner, Matthias Saloustros, Emmanouil Schmidt, Marjanka K. Schmutzler, Rita K. Schneider, Michael O. Schoemaker, Minouk J. Scott, Christopher Shen, Chen-Yang Shu, Xiao-Ou Simard, Jacques Slager, Susan Smichkoska, Snezhana Southey, Melissa C. Spinelli, John J. Stone, Jennifer Surowy, Harald Swerdlow, Anthony J. Tamimi, Rulla M. Tapper, William J. Teo, Soo H. Terry, Mary Beth Toland, Amanda E. Tollenaar, Robert A.E.M. Torres, Diana Torres-Mejía, Gabriela Troester, Melissa A. Truong, Thérèse Tsugane, Shoichiro Untch, Michael Vachon, Celine M. van den Ouweland, Ans M.W. van Veen, Elke M. Vijai, Joseph Wendt, Camilla Wolk, Alicja Yu, Jyh-Cherng Zheng, Wei Ziogas, Argyrios Ziv, Elad Dunning, Alison M. Pharoah, Paul D.P. Schindler, Detlev Devilee, Peter Easton, Douglas F. . Two truncating variants in FANCC and breast cancer risk. Scientific Reports. 2019, 9, 1-14; http://hdl.handle.net/10852/76593Test; 1751255; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Scientific Reports&rft.volume=9&rft.spage=1&rft.date=2019; Scientific Reports; https://doi.org/10.1038/s41598-019-48804-yTest; URN:NBN:no-79698; Fulltext https://www.duo.uio.no/bitstream/handle/10852/76593/1/Vessela%2BKristensen-%2B2019-s41598-019-48804-y.pdfTest |
| DOI: | 10.1038/s41598-019-48804-y |
| الإتاحة: | https://doi.org/10.1038/s41598-019-48804-yTest http://hdl.handle.net/10852/76593Test http://urn.nb.no/URN:NBN:no-79698Test |
| حقوق: | Attribution 4.0 International ; https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.4FF79F2 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41598-019-48804-y |
|---|