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Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain.

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Main Authors: Dorling, Leila (Author) , Carvalho, Sara (Author) , Allen, Jamie (Author) , Parsons, Michael T. (Author) , Fortuno, Cristina (Author) , González-Neira, Anna (Author) , Heijl, Stephan M. (Author) , Adank, Muriel A. (Author) , Ahearn, Thomas U. (Author) , Andrulis, Irene L. (Author) , Auvinen, Päivi (Author) , Becher, Heiko (Author) , Beckmann, Matthias W. (Author) , Behrens, Sabine (Author) , Bermisheva, Marina (Author) , Bogdanova, Natalia V. (Author) , Bojesen, Stig E. (Author) , Bolla, Manjeet K. (Author) , Bremer, Michael (Author) , Briceno, Ignacio (Author) , Camp, Nicola J. (Author) , Campbell, Archie (Author) , Castelao, Jose E. (Author) , Chang-Claude, Jenny (Author) , Chanock, Stephen J. (Author) , Chenevix-Trench, Georgia (Author) , Collée, J. Margriet (Author) , Czene, Kamila (Author) , Dennis, Joe (Author) , Dörk, Thilo (Author) , Eriksson, Mikael (Author) , Evans, D. Gareth (Author) , Fasching, Peter A. (Author) , Figueroa, Jonine (Author) , Flyger, Henrik (Author) , Gabrielson, Marike (Author) , Gago-Dominguez, Manuela (Author) , García-Closas, Montserrat (Author) , Giles, Graham G. (Author) , Glendon, Gord (Author) , Guénel, Pascal (Author) , Gündert, Melanie (Author) , Hadjisavvas, Andreas (Author) , Hahnen, Eric (Author) , Hall, Per (Author) , Hamann, Ute (Author) , Harkness, Elaine F. (Author) , Hartman, Mikael (Author) , Hogervorst, Frans B. L. (Author) , Hollestelle, Antoinette (Author) , Hoppe, Reiner (Author) , Howell, Anthony (Author) , Jakubowska, Anna (Author) , Jung, Audrey (Author) , Khusnutdinova, Elza (Author) , Kim, Sung-Won (Author) , Ko, Yon-Dschun (Author) , Kristensen, Vessela N. (Author) , Lakeman, Inge M. M. (Author) , Li, Jingmei (Author) , Lindblom, Annika (Author) , Loizidou, Maria A. (Author) , Lophatananon, Artitaya (Author) , Lubiński, Jan (Author) , Luccarini, Craig (Author) , Madsen, Michael J. (Author) , Mannermaa, Arto (Author) , Manoochehri, Mehdi (Author) , Margolin, Sara (Author) , Mavroudis, Dimitrios (Author) , Milne, Roger L. (Author) , Mohd Taib, Nur Aishah (Author) , Muir, Kenneth (Author) , Nevanlinna, Heli (Author) , Newman, William G. (Author) , Oosterwijk, Jan C. (Author) , Park, Sue K. (Author) , Peterlongo, Paolo (Author) , Radice, Paolo (Author) , Saloustros, Emmanouil (Author) , Sawyer, Elinor J. (Author) , Schmutzler, Rita K. (Author) , Shah, Mitul (Author) , Sim, Xueling (Author) , Southey, Melissa C. (Author) , Surowy, Harald (Author) , Suvanto, Maija (Author) , Tomlinson, Ian (Author) , Torres, Diana (Author) , Truong, Thérèse (Author) , van Asperen, Christi J. (Author) , Waltes, Regina (Author) , Wang, Qin (Author) , Yang, Xiaohong R. (Author) , Pharoah, Paul D. P. (Author) , Schmidt, Marjanka K. (Author) , Benitez, Javier (Author) , Vroling, Bas (Author) , Dunning, Alison M. (Author) , Teo, Soo Hwang (Author) , Kvist, Anders (Author) , de la Hoya, Miguel (Author) , Devilee, Peter (Author) , Spurdle, Amanda B. (Author) , Vreeswijk, Maaike P. G. (Author) , Easton, Douglas F. (Author)
Format: Article (Journal)
Language:English
Published: 18 May 2022
In: Genome medicine
Year: 2022, Volume: 14, Pages: 1-17
ISSN:1756-994X
DOI:10.1186/s13073-022-01052-8
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13073-022-01052-8
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Author Notes:Leila Dorling, Sara Carvalho, Jamie Allen, Michael T. Parsons, Cristina Fortuno, Anna González-Neira, Stephan M. Heijl, Muriel A. Adank, Thomas U. Ahearn, Irene L. Andrulis, Päivi Auvinen, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Marina Bermisheva, Natalia V. Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Michael Bremer, Ignacio Briceno, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Jenny Chang-Claude, Stephen J. Chanock, Georgia Chenevix-Trench, J. Margriet Collée, Kamila Czene, Joe Dennis, Thilo Dörk, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Graham G. Giles, Gord Glendon, Pascal Guénel, Melanie Gündert, Andreas Hadjisavvas, Eric Hahnen, Per Hall, Ute Hamann, Elaine F. Harkness, Mikael Hartman, Frans B.L. Hogervorst, Antoinette Hollestelle, Reiner Hoppe, Anthony Howell, Anna Jakubowska, Audrey Jung, Elza Khusnutdinova, Sung-Won Kim, Yon-Dschun Ko, Vessela N. Kristensen, Inge M.M. Lakeman, Jingmei Li, Annika Lindblom, Maria A. Loizidou, Artitaya Lophatananon, Jan Lubiński, Craig Luccarini, Michael J. Madsen, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Dimitrios Mavroudis, Roger L. Milne, Nur Aishah Mohd Taib, Kenneth Muir, Heli Nevanlinna, William G. Newman, Jan C. Oosterwijk, Sue K. Park, Paolo Peterlongo, Paolo Radice, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Mitul Shah, Xueling Sim, Melissa C. Southey, Harald Surowy, Maija Suvanto, Ian Tomlinson, Diana Torres, Thérèse Truong, Christi J. van Asperen, Regina Waltes, Qin Wang, Xiaohong R. Yang, Paul D.P. Pharoah, Marjanka K. Schmidt, Javier Benitez, Bas Vroling, Alison M. Dunning, Soo Hwang Teo, Anders Kvist, Miguel de la Hoya, Peter Devilee, Amanda B. Spurdle, Maaike P.G. Vreeswijk and Douglas F. Easton
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Summary:Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain.
Item Description:Gesehen am 18.07.2022
Physical Description:Online Resource
ISSN:1756-994X
DOI:10.1186/s13073-022-01052-8

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