Genome-wide association study of germline variants and breast cancer-specific mortality
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Genome-wide association study of germline variants and breast cancer-specific mortality. / Escala-Garcia, Maria; Guo, Qi; Dörk, Thilo; Canisius, Sander; Keeman, Renske; Dennis, Joe; Beesley, Jonathan; Lecarpentier, Julie; Bolla, Manjeet K; Wang, Qin; Abraham, Jean; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Auer, Paul L; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Blomqvist, Carl; Boeckx, Bram; Bojesen, Stig E; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brauch, Hiltrud; Brenner, Hermann; Brentnall, Adam; Brinton, Louise; Broberg, Per; Brock, Ian W; Brucker, Sara Y; Burwinkel, Barbara; Caldas, Carlos; Caldés, Trinidad; Campa, Daniele; Canzian, Federico; Carracedo, Angel; Carter, Brian D; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Chenevix-Trench, Georgia; Cheng, Ting-Yuan David; Chin, Suet-Feung; Clarke, Christine L; Cordina-Duverger, Emilie; Couch, Fergus J; Cox, David G; Cox, Angela; Cross, Simon S; Czene, Kamila; Daly, Mary B; Devilee, Peter; Dunn, Janet A; Dunning, Alison M; Durcan, Lorraine; Dwek, Miriam; Earl, Helena M; Ekici, Arif B; Eliassen, A Heather; Ellberg, Carolina; Engel, Christoph; Eriksson, Mikael; Evans, D Gareth; Figueroa, Jonine; Flesch-Janys, Dieter; Flyger, Henrik; Gabrielson, Marike; Gago-Dominguez, Manuela; Galle, Eva; Gapstur, Susan M; García-Closas, Montserrat; García-Sáenz, José A; Gaudet, Mia M; George, Angela; Georgoulias, Vassilios; Giles, Graham G; Glendon, Gord; Goldgar, David E; González-Neira, Anna; Alnæs, Grethe I Grenaker; Grip, Mervi; Guénel, Pascal; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A; Håkansson, Niclas; Hall, Per; Hamann, Ute; Hankinson, Susan; Harkness, Elaine F; Harrington, Patricia A; Hart, Steven N; Hartikainen, Jaana M; Hein, Alexander; Hillemanns, Peter; Hiller, Louise; Holleczek, Bernd; Hooning, Maartje J; Hoover, Robert N; Hopper, John L; Howell, Anthony; Huang, Guanmengqian; Humphreys, Keith; Hunter, David J; Janni, Wolfgang; John, Esther M; Jones, Michael E; Jukkola-Vuorinen, Arja; Jung, Audrey; Kaaks, Rudolf; Kabisch, Maria; Kaczmarek, Katarzyna; Kerin, Michael J; Khan, Sofia; Khusnutdinova, Elza; Kiiski, Johanna I; Kitahara, Cari M; Knight, Julia A; Ko, Yon-Dschun; Koppert, Linetta B; Kosma, Veli-Matti; Kraft, Peter; Kristensen, Vessela N; Krüger, Ute; Kühl, Tabea; Lambrechts, Diether; Le Marchand, Loic; Lee, Eunjung; Lejbkowicz, Flavio; Li, Lian; Lindblom, Annika; Lindström, Sara; Linet, Martha; Lissowska, Jolanta; Lo, Wing-Yee; Loibl, Sibylle; Lubiński, Jan; Lux, Michael P; MacInnis, Robert J; Maierthaler, Melanie; Maishman, Tom; Makalic, Enes; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martinez, Maria Elena; Mavroudis, Dimitrios; McLean, Catriona; Meindl, Alfons; Middha, Pooja; Miller, Nicola; Milne, Roger L; Moreno, Fernando; Mulligan, Anna Marie; Mulot, Claire; Nassir, Rami; Neuhausen, Susan L; Newman, William T; Nielsen, Sune F; Nordestgaard, Børge G; Norman, Aaron; Olsson, Håkan; Orr, Nick; Pankratz, V Shane; Park-Simon, Tjoung-Won; Perez, Jose I A; Pérez-Barrios, Clara; Peterlongo, Paolo; Petridis, Christos; Pinchev, Mila; Prajzendanc, Karoliona; Prentice, Ross; Presneau, Nadege; Prokofieva, Darya; Pylkäs, Katri; Rack, Brigitte; Radice, Paolo; Ramachandran, Dhanya; Rennert, Gadi; Rennert, Hedy S; Rhenius, Valerie; Romero, Atocha; Roylance, Rebecca; Saloustros, Emmanouil; Sawyer, Elinor J; Schmidt, Daniel F; Schmutzler, Rita K; Schneeweiss, Andreas; Schoemaker, Minouk J; Schumacher, Fredrick; Schwentner, Lukas; Scott, Rodney J; Scott, Christopher; Seynaeve, Caroline; Shah, Mitul; Simard, Jacques; Smeets, Ann; Sohn, Christof; Southey, Melissa C; Swerdlow, Anthony J; Talhouk, Aline; Tamimi, Rulla M; Tapper, William J; Teixeira, Manuel R; Tengström, Maria; Terry, Mary Beth; Thöne, Kathrin; Tollenaar, Rob A E M; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Turman, Constance; Turnbull, Clare; Ulmer, Hans-Ulrich; Untch, Michael; Vachon, Celine; van Asperen, Christi J; van den Ouweland, Ans M W; van Veen, Elke M; Wendt, Camilla; Whittemore, Alice S; Willett, Walter; Winqvist, Robert; Wolk, Alicja; Yang, Xiaohong R; Zhang, Yan; Easton, Douglas F; Fasching, Peter A; Nevanlinna, Heli; Eccles, Diana M; Pharoah, Paul D P; Schmidt, Marjanka K; NBCS Collaborators.
in: BRIT J CANCER, Jahrgang 120, Nr. 6, 03.2019, S. 647-657.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Genome-wide association study of germline variants and breast cancer-specific mortality
AU - Escala-Garcia, Maria
AU - Guo, Qi
AU - Dörk, Thilo
AU - Canisius, Sander
AU - Keeman, Renske
AU - Dennis, Joe
AU - Beesley, Jonathan
AU - Lecarpentier, Julie
AU - Bolla, Manjeet K
AU - Wang, Qin
AU - Abraham, Jean
AU - Andrulis, Irene L
AU - Anton-Culver, Hoda
AU - Arndt, Volker
AU - Auer, Paul L
AU - Beckmann, Matthias W
AU - Behrens, Sabine
AU - Benitez, Javier
AU - Bermisheva, Marina
AU - Bernstein, Leslie
AU - Blomqvist, Carl
AU - Boeckx, Bram
AU - Bojesen, Stig E
AU - Bonanni, Bernardo
AU - Børresen-Dale, Anne-Lise
AU - Brauch, Hiltrud
AU - Brenner, Hermann
AU - Brentnall, Adam
AU - Brinton, Louise
AU - Broberg, Per
AU - Brock, Ian W
AU - Brucker, Sara Y
AU - Burwinkel, Barbara
AU - Caldas, Carlos
AU - Caldés, Trinidad
AU - Campa, Daniele
AU - Canzian, Federico
AU - Carracedo, Angel
AU - Carter, Brian D
AU - Castelao, Jose E
AU - Chang-Claude, Jenny
AU - Chanock, Stephen J
AU - Chenevix-Trench, Georgia
AU - Cheng, Ting-Yuan David
AU - Chin, Suet-Feung
AU - Clarke, Christine L
AU - Cordina-Duverger, Emilie
AU - Couch, Fergus J
AU - Cox, David G
AU - Cox, Angela
AU - Cross, Simon S
AU - Czene, Kamila
AU - Daly, Mary B
AU - Devilee, Peter
AU - Dunn, Janet A
AU - Dunning, Alison M
AU - Durcan, Lorraine
AU - Dwek, Miriam
AU - Earl, Helena M
AU - Ekici, Arif B
AU - Eliassen, A Heather
AU - Ellberg, Carolina
AU - Engel, Christoph
AU - Eriksson, Mikael
AU - Evans, D Gareth
AU - Figueroa, Jonine
AU - Flesch-Janys, Dieter
AU - Flyger, Henrik
AU - Gabrielson, Marike
AU - Gago-Dominguez, Manuela
AU - Galle, Eva
AU - Gapstur, Susan M
AU - García-Closas, Montserrat
AU - García-Sáenz, José A
AU - Gaudet, Mia M
AU - George, Angela
AU - Georgoulias, Vassilios
AU - Giles, Graham G
AU - Glendon, Gord
AU - Goldgar, David E
AU - González-Neira, Anna
AU - Alnæs, Grethe I Grenaker
AU - Grip, Mervi
AU - Guénel, Pascal
AU - Haeberle, Lothar
AU - Hahnen, Eric
AU - Haiman, Christopher A
AU - Håkansson, Niclas
AU - Hall, Per
AU - Hamann, Ute
AU - Hankinson, Susan
AU - Harkness, Elaine F
AU - Harrington, Patricia A
AU - Hart, Steven N
AU - Hartikainen, Jaana M
AU - Hein, Alexander
AU - Hillemanns, Peter
AU - Hiller, Louise
AU - Holleczek, Bernd
AU - Hooning, Maartje J
AU - Hoover, Robert N
AU - Hopper, John L
AU - Howell, Anthony
AU - Huang, Guanmengqian
AU - Humphreys, Keith
AU - Hunter, David J
AU - Janni, Wolfgang
AU - John, Esther M
AU - Jones, Michael E
AU - Jukkola-Vuorinen, Arja
AU - Jung, Audrey
AU - Kaaks, Rudolf
AU - Kabisch, Maria
AU - Kaczmarek, Katarzyna
AU - Kerin, Michael J
AU - Khan, Sofia
AU - Khusnutdinova, Elza
AU - Kiiski, Johanna I
AU - Kitahara, Cari M
AU - Knight, Julia A
AU - Ko, Yon-Dschun
AU - Koppert, Linetta B
AU - Kosma, Veli-Matti
AU - Kraft, Peter
AU - Kristensen, Vessela N
AU - Krüger, Ute
AU - Kühl, Tabea
AU - Lambrechts, Diether
AU - Le Marchand, Loic
AU - Lee, Eunjung
AU - Lejbkowicz, Flavio
AU - Li, Lian
AU - Lindblom, Annika
AU - Lindström, Sara
AU - Linet, Martha
AU - Lissowska, Jolanta
AU - Lo, Wing-Yee
AU - Loibl, Sibylle
AU - Lubiński, Jan
AU - Lux, Michael P
AU - MacInnis, Robert J
AU - Maierthaler, Melanie
AU - Maishman, Tom
AU - Makalic, Enes
AU - Mannermaa, Arto
AU - Manoochehri, Mehdi
AU - Manoukian, Siranoush
AU - Margolin, Sara
AU - Martinez, Maria Elena
AU - Mavroudis, Dimitrios
AU - McLean, Catriona
AU - Meindl, Alfons
AU - Middha, Pooja
AU - Miller, Nicola
AU - Milne, Roger L
AU - Moreno, Fernando
AU - Mulligan, Anna Marie
AU - Mulot, Claire
AU - Nassir, Rami
AU - Neuhausen, Susan L
AU - Newman, William T
AU - Nielsen, Sune F
AU - Nordestgaard, Børge G
AU - Norman, Aaron
AU - Olsson, Håkan
AU - Orr, Nick
AU - Pankratz, V Shane
AU - Park-Simon, Tjoung-Won
AU - Perez, Jose I A
AU - Pérez-Barrios, Clara
AU - Peterlongo, Paolo
AU - Petridis, Christos
AU - Pinchev, Mila
AU - Prajzendanc, Karoliona
AU - Prentice, Ross
AU - Presneau, Nadege
AU - Prokofieva, Darya
AU - Pylkäs, Katri
AU - Rack, Brigitte
AU - Radice, Paolo
AU - Ramachandran, Dhanya
AU - Rennert, Gadi
AU - Rennert, Hedy S
AU - Rhenius, Valerie
AU - Romero, Atocha
AU - Roylance, Rebecca
AU - Saloustros, Emmanouil
AU - Sawyer, Elinor J
AU - Schmidt, Daniel F
AU - Schmutzler, Rita K
AU - Schneeweiss, Andreas
AU - Schoemaker, Minouk J
AU - Schumacher, Fredrick
AU - Schwentner, Lukas
AU - Scott, Rodney J
AU - Scott, Christopher
AU - Seynaeve, Caroline
AU - Shah, Mitul
AU - Simard, Jacques
AU - Smeets, Ann
AU - Sohn, Christof
AU - Southey, Melissa C
AU - Swerdlow, Anthony J
AU - Talhouk, Aline
AU - Tamimi, Rulla M
AU - Tapper, William J
AU - Teixeira, Manuel R
AU - Tengström, Maria
AU - Terry, Mary Beth
AU - Thöne, Kathrin
AU - Tollenaar, Rob A E M
AU - Tomlinson, Ian
AU - Torres, Diana
AU - Truong, Thérèse
AU - Turman, Constance
AU - Turnbull, Clare
AU - Ulmer, Hans-Ulrich
AU - Untch, Michael
AU - Vachon, Celine
AU - van Asperen, Christi J
AU - van den Ouweland, Ans M W
AU - van Veen, Elke M
AU - Wendt, Camilla
AU - Whittemore, Alice S
AU - Willett, Walter
AU - Winqvist, Robert
AU - Wolk, Alicja
AU - Yang, Xiaohong R
AU - Zhang, Yan
AU - Easton, Douglas F
AU - Fasching, Peter A
AU - Nevanlinna, Heli
AU - Eccles, Diana M
AU - Pharoah, Paul D P
AU - Schmidt, Marjanka K
AU - NBCS Collaborators
PY - 2019/3
Y1 - 2019/3
N2 - BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry.METHODS: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP).RESULTS: We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10-8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10-7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84-0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10-7, HR = 1.27, 95% CI = 1.16-1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster.CONCLUSIONS: We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients.
AB - BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry.METHODS: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP).RESULTS: We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10-8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10-7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84-0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10-7, HR = 1.27, 95% CI = 1.16-1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster.CONCLUSIONS: We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients.
KW - Bayes Theorem
KW - Breast Neoplasms/genetics
KW - Chromosomes, Human, Pair 7
KW - European Continental Ancestry Group/genetics
KW - Female
KW - Genetic Variation
KW - Genome-Wide Association Study
KW - Humans
KW - Prognosis
KW - Proportional Hazards Models
KW - Receptors, Estrogen/genetics
U2 - 10.1038/s41416-019-0393-x
DO - 10.1038/s41416-019-0393-x
M3 - SCORING: Journal article
C2 - 30787463
VL - 120
SP - 647
EP - 657
JO - BRIT J CANCER
JF - BRIT J CANCER
SN - 0007-0920
IS - 6
ER -