Supplementary Tables and References from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Autor: Fergus J. Couch, Maaike P.G. Vreeswijk, Aura Carreira, David E. Goldgar, Alvaro N.A. Monteiro, Harry Vrieling, Peter Devilee, Amanda Spurdle, Douglas F. Easton, Setareh Moghadasi, Liliana Varesco, Kathleen B.M. Claes, Florentia Fostira, Lenka Foretova, Logan Walker, Jennifer Leary, Ying Zheng, Wei Zheng, Jyh-Cherng Yu, Anna H. Wu, Robert Winqvist, Qin Wang, Lizet E. van der Kolk, Christi J. van Asperen, Thérèse Truong, Diana Torres, Ian Tomlinson, Soo H. Teo, Anthony Swerdlow, Daniel O. Stram, Melissa C. Southey, Susan Slager, Xiao-Ou Shu, Martha Shrubsole, Chen-Yang Shen, Mitul Shah, Caroline Seynaeve, Minouk J. Schoemaker, Marjanka K. Schmidt, Elinor J. Sawyer, Suleeporn Sangrajrang, Anja Rudolph, Valerie Rhenius, Muhammad Usman Rashid, Paolo Radice, Katri Pylkäs, Paul D.P. Pharoah, Julian Peto, Paolo Peterlongo, Ana Osorio, Jan J.C. Oosterwijk, Curtis Olswold, Janet E. Olson, Heli Nevanlinna, Susan L. Neuhausen, Kenneth Muir, Roger L. Milne, Kyriaki Michailidou, Hui Miao, Keitaro Matsuo, Frederik Marme, Sara Margolin, Arto Mannermaa, Eva Machackova, Jan Lubinski, Artitaya Lophatananon, Annika Lindblom, Jingmei Li, Loic Le Marchand, Diether Lambrechts, Kah-Nyin Lai, Vessela Kristensen, Veli-Matti Kosma, Daehee Kang, Anna Jakubowska, Hidemi Ito, John L. Hopper, Antoinette Hollestelle, Frans B. Hogervorst, Mikael Hartman, Ute Hamann, Per Hall, Christopher A. Haiman, Pascal Guénel, Gord Glendon, Graham G. Giles, Montserrat García-Closas, Henrik Flyger, Jonine Figueroa, Peter A. Fasching, Alison M. Dunning, Isabel dos-Santos-Silva, Thilo Dörk, Joe Dennis, Hatef Darabi, Kamila Czene, Simon S. Cross, Angela Cox, J. Margriet Collée, Ji-Yeob Choi, Ching-Yu Cheng, Georgia Chenevix-Trench, Jenny Chang-Claude, Barbara Burwinkel, Thomas Brüning, Barbara Brouwers, Annegien Broeks, Hermann Brenner, Paul Brennan, Hiltrud Brauch, Anne-Lise Borresen-Dale, Manjeet K. Bolla, Stig E. Bojesen, Natalia V. Bogdanova, Javier Benitez, Matthias W. Beckmann, Volker Arndt, Hoda Anton-Culver, Irene Andrulis, Kristiina Aittomäki, Cora M. Aalfs, Chunling Hu, Jenna Lilyquist, Jamie Hinton, Emily Hallberg, Huong Meeks, Fabienne M.G.R. Calléja, Charlotte Martin, Lucia Guidugli, Asa Ehlen, Catharina Von Nicolai, Romy L.S. Mesman, Hermela Shimelis

Table S1: Description of the BCAC studies contributing to COGS. Table S2: Predicted effects of BRCA1 and BRCA2 variants included in the iCOGS array on protein function. Table S3: Frequency of BRCA1 and BRCA2 variants from iCOGS in breast cancer cases

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https://doi.org/10.1158/0008-5472.22412703.v1

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Autor: Ian Tomlinson, Thérèse Truong, Henrik Flyger, Martha J. Shrubsole, Manjeet K. Bolla, Paolo Radice, Janet E. Olson, Xiao-Ou Shu, Ching-Yu Cheng, Kyriaki Michailidou, John L. Hopper, Annika Lindblom, Lizet E. van der Kolk, Paolo Peterlongo, Cora M. Aalfs, Susan L. Neuhausen, Hermela Shimelis, Jonine D. Figueroa, Florentia Fostira, Ji Yeob Choi, Fabienne Calléja, Setareh Moghadasi, Barbara Brouwers, Hui Miao, Pascal Guénel, Graham G. Giles, Roger L. Milne, Gord Glendon, Hidemi Ito, Per Hall, Jingmei Li, Elinor J. Sawyer, Javier Benitez, Isabel dos-Santos-Silva, Melissa C. Southey, Jyh-Cherng Yu, Curtis Olswold, Julian Peto, Valerie Rhenius, Katri Pylkäs, Anne Lise Børresen-Dale, Robert Winqvist, J. Margriet Collée, Mitul Shah, Minouk J. Schoemaker, Barbara Burwinkel, Pharoah Pd, Hermann Brenner, Keitaro Matsuo, Eva Machackova, Caroline M. Seynaeve, David E. Goldgar, Anna Jakubowska, Paul Brennan, Kathleen Claes, Montserrat Garcia-Closas, Vessela N. Kristensen, Douglas F. Easton, Hoda Anton-Culver, Åsa Ehlén, Stig E. Bojesen, Maaike P.G. Vreeswijk, Irene L. Andrulis, Annegien Broeks, Joe Dennis, Daniel O. Stram, Simon S. Cross, Christopher A. Haiman, Hatef Darabi, Veli-Matti Kosma, Daehee Kang, Frans B. L. Hogervorst, Alison M. Dunning, Aura Carreira, Antoinette Hollestelle, Kenneth Muir, Susan L. Slager, Thilo Dörk, Jennifer A. Leary, Sara Margolin, Jenna Lilyquist, Jenny Chang-Claude, Liliana Varesco, Amanda B. Spurdle, Georgia Chenevix-Trench, Diana Torres, Emily Hallberg, Marjanka K. Schmidt, Kristiina Aittomäki, Harry Vrieling, Loic Le Marchand, Catharina von Nicolai, Angela Cox, Matthias W. Beckmann, Natalia Bogdanova, Volker Arndt, Anja Rudolph, Arto Mannermaa, Heli Nevanlinna, Jamie Hinton, Lenka Foretova, Logan C. Walker, Muhammad Usman Rashid, Wei Zheng, Ying Zheng, Peter Devilee, Lucia Guidugli, Frederik Marme, Jan C. Oosterwijk, Alvaro N.A. Monteiro, Anna H. Wu, Anthony J. Swerdlow, Mikael Hartman, Soo H. Teo, Hiltrud Brauch, Thomas Brüning, Artitaya Lophatananon, Peter A. Fasching, Diether Lambrechts, Christi J. van Asperen, Chen-Yang Shen, Suleeporn Sangrajrang, Huong Meeks, Jan Lubinski, Kah-Nyin Lai, Ana Osorio, Chunling Hu, Qin Wang, Kamila Czene, Romy L. S. Mesman, Fergus J. Couch, Ute Hamann, Charlotte Martin

Publikováno v: Cancer Research
Shimelis, H, Mesman, R L S, Von Nicolai, C, Ehlen, A, Guidugli, L, Martin, C, Calléja, F M G R, Meeks, H, Hallberg, E, Hinton, J, Lilyquist, J, Hu, C, Aalfs, C M, Aittomäki, K, Andrulis, I, Anton-Culver, H, Arndt, V, Beckmann, M W, Benitez, J, Bogdanova, N V, Bojesen, S E, Bolla, M K, Borresen-Dale, A L, Brauch, H, Brennan, P, Brenner, H, Broeks, A, Brouwers, B, Brüning, T, Burwinkel, B, Chang-Claude, J, Chenevix-Trench, G, Cheng, C Y, Choi, J Y, Collée, J M, Cox, A, Cross, S S, Czene, K, Darabi, H, Dennis, J, Dörk, T, Dos-Santos-Silva, I, Dunning, A M, Fasching, P A, Figueroa, J, Flyger, H, García-Closas, M, Giles, G G, Glendon, G, Guénel, P, kConFab/AOCS Investigators & NBCS Collaborators 2017, ' BRCA2 hypomorphic missense variants confer moderate risks of breast cancer ', Cancer Research, vol. 77, no. 11, pp. 2789-2799 . https://doi.org/10.1158/0008-5472.CAN-16-2568
Shimelis, H, Mesman, R L S, Von Nicolai, C, Ehlen, A, Guidugli, L, Martin, C, Calleja, F M, Meeks, H, Hallberg, E, Hinton, J, Lilyquist, J, Hu, C, Aalfs, C M, Aittomaki, K, Andrulis, I L, Anton-culver, H, Arndt, V, Beckmann, M W, Benitez, J J, Bogdanova, N, Bojesen, S E, Bolla, M K, Borresen-dale, A, Brauch, H, Brenner, H, Broeks, A, Brouwers, B, Bruning, T, Burwinkel, B, Chang-claude, J, Chenevix-trench, G, Cheng, C, Choi, J, Collée, J M, Cox, A, Cross, S S, Czene, K, Darabi, H, Dennis, J, Dork, T, Dos Santos Silva, I, Dunning, A M, Fasching, P A, Figueroa, J D, Flyger, H, Garcia-closas, M, Giles, G G, Glendon, G, Guenel, P, Haiman, C A, Hall, P, Hamann, U, Hartman, M, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Ito, H, Jakubowska, A, Kang, D, Kosma, V, Kristensen, V, Lai, K, Lambrechts, D, Le Marchand, L, Li, J, Lindblom, A, Lophatananon, A, Lubinski, J, Machackova, E, Mannermaa, A, Margolin, S, Marme, F, Matsuo, K, Miao, H, Michailidou, K, Milne, R L, Muir, K, Neuhausen, S L, Nevanlinna, H, Olson, J E, Olswold, C, Oosterwijk, J C, Osorio, A, Peterlongo, P, Peto, J, Pharoah, P D P, Pylkäs, K, Radice, P, Rashid, M U, Rhenius, V, Rudolph, A, Sangrajrang, S, Sawyer, E J, Schmidt, M K, Schoemaker, M J, Seynaeve, C M, Shah, M, Shen, C, Shrubsole, M J, Shu, X, Slager, S L, Southey, M C, Stram, D O, Swerdlow, A J, Teo, S H, Tomlinson, I, Torres, D, Truong, T, Van Asperen, C J, Van Der Kolk, L E, Wang, Q, Winqvist, R, Wu, A H, Yu, J, Zheng, W, Zheng, Y, Leary, J, Walker, L C, Foretova, L, Fostira, F, Claes, K, Varesco, L, Moghadasi, S, Easton, D F, Spurdle, A B, Devilee, P, Vrieling, H, Monteiro, A N, Goldgar, D E, Carreira, A, Vreeswijk, M P G & Couch, F J 2017, ' BRCA2 hypomorphic missense variants confer moderate risks of breast cancer ', Cancer Research, vol. 77, no. 11, pp. 2789-2799 . https://doi.org/10.1158/0008-5472.CAN-16-2568
Cancer Research, 77(11), 2789-2799. AMER ASSOC CANCER RESEARCH
Cancer Research, 77(11), 2789-2799. American Association for Cancer Research Inc.
Cancer research, 77(11), 2789-2799. American Association for Cancer Research Inc.
Cancer Research, 77(11), 2789-2799

Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missens

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f05ee1cbceecbff1db74b84d94e89049
https://doi.org/10.1158/0008-5472.can-16-2568