CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
Standard
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers. / 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; 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; NBCS Collaborators.
In: BRIT J CANCER, Vol. 124, No. 4, 02.2021, p. 842-854.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
AU - Johnson, Nichola
AU - Maguire, Sarah
AU - Morra, Anna
AU - Kapoor, Pooja Middha
AU - Tomczyk, Katarzyna
AU - Jones, Michael E
AU - Schoemaker, Minouk J
AU - Gilham, Clare
AU - Bolla, Manjeet K
AU - Wang, Qin
AU - Dennis, Joe
AU - Ahearn, Thomas U
AU - Andrulis, Irene L
AU - Anton-Culver, Hoda
AU - Antonenkova, Natalia N
AU - Arndt, Volker
AU - Aronson, Kristan J
AU - Augustinsson, Annelie
AU - Baynes, Caroline
AU - Freeman, Laura E Beane
AU - Benitez, Javier
AU - Bermisheva, Marina
AU - Blomqvist, Carl
AU - Boeckx, Bram
AU - Bogdanova, Natalia V
AU - Bojesen, Stig E
AU - Brauch, Hiltrud
AU - Brenner, Hermann
AU - Burwinkel, Barbara
AU - Campa, Daniele
AU - Canzian, Federico
AU - Castelao, Jose E
AU - Chanock, Stephen J
AU - Chenevix-Trench, Georgia
AU - Clarke, Christine L
AU - Conroy, Don M
AU - Couch, Fergus J
AU - Cox, Angela
AU - Cross, Simon S
AU - Czene, Kamila
AU - Dörk, Thilo
AU - Eliassen, A Heather
AU - Engel, Christoph
AU - Evans, D Gareth
AU - Fasching, Peter A
AU - Figueroa, Jonine
AU - Floris, Giuseppe
AU - Flyger, Henrik
AU - Gago-Dominguez, Manuela
AU - Gapstur, Susan M
AU - García-Closas, Montserrat
AU - Gaudet, Mia M
AU - Giles, Graham G
AU - Goldberg, Mark S
AU - González-Neira, Anna
AU - Guénel, Pascal
AU - Hahnen, Eric
AU - Haiman, Christopher A
AU - Håkansson, Niclas
AU - Hall, Per
AU - Hamann, Ute
AU - Harrington, Patricia A
AU - Hart, Steven N
AU - Hooning, Maartje J
AU - Hopper, John L
AU - Howell, Anthony
AU - Hunter, David J
AU - Jager, Agnes
AU - Jakubowska, Anna
AU - John, Esther M
AU - Kaaks, Rudolf
AU - Keeman, Renske
AU - Khusnutdinova, Elza
AU - Kitahara, Cari M
AU - Kosma, Veli-Matti
AU - Koutros, Stella
AU - Kraft, Peter
AU - Kristensen, Vessela N
AU - Kurian, Allison W
AU - Lambrechts, Diether
AU - Le Marchand, Loic
AU - Linet, Martha
AU - Lubiński, Jan
AU - Mannermaa, Arto
AU - Manoukian, Siranoush
AU - Margolin, Sara
AU - Martens, John W M
AU - Mavroudis, Dimitrios
AU - Mayes, Rebecca
AU - Meindl, Alfons
AU - Milne, Roger L
AU - Neuhausen, Susan L
AU - Nevanlinna, Heli
AU - Newman, William G
AU - Nielsen, Sune F
AU - Nordestgaard, Børge G
AU - Obi, Nadia
AU - Olshan, Andrew F
AU - Olson, Janet E
AU - Olsson, Håkan
AU - Orban, Ester
AU - Park-Simon, Tjoung-Won
AU - Peterlongo, Paolo
AU - Plaseska-Karanfilska, Dijana
AU - Pylkäs, Katri
AU - Rennert, Gad
AU - Rennert, Hedy S
AU - Ruddy, Kathryn J
AU - Saloustros, Emmanouil
AU - Sandler, Dale P
AU - Sawyer, Elinor J
AU - Schmutzler, Rita K
AU - Scott, Christopher
AU - Shu, Xiao-Ou
AU - Simard, Jacques
AU - Smichkoska, Snezhana
AU - Sohn, Christof
AU - Southey, Melissa C
AU - Spinelli, John J
AU - Stone, Jennifer
AU - Tamimi, Rulla M
AU - Taylor, Jack A
AU - Tollenaar, Rob A E M
AU - Tomlinson, Ian
AU - Troester, Melissa A
AU - Truong, Thérèse
AU - Vachon, Celine M
AU - van Veen, Elke M
AU - Wang, Sophia S
AU - Weinberg, Clarice R
AU - Wendt, Camilla
AU - Wildiers, Hans
AU - Winqvist, Robert
AU - Wolk, Alicja
AU - Zheng, Wei
AU - Ziogas, Argyrios
AU - Dunning, Alison M
AU - Pharoah, Paul D P
AU - Easton, Douglas F
AU - Howie, A Forbes
AU - Peto, Julian
AU - Dos-Santos-Silva, Isabel
AU - Swerdlow, Anthony J
AU - Chang-Claude, Jenny
AU - Schmidt, Marjanka K
AU - Orr, Nick
AU - Fletcher, Olivia
AU - NBCS Collaborators
PY - 2021/2
Y1 - 2021/2
N2 - 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 breast cancer risk.METHODS: We carried out a genome-wide association study of urinary oestrone-3-glucuronide and pregnanediol-3-glucuronide levels in 560 premenopausal women, with additional analysis of progesterone levels in 298 premenopausal women. To test for the association with breast cancer risk, we carried out follow-up genotyping in 90,916 cases and 89,893 controls from the Breast Cancer Association Consortium. All women were of European ancestry.RESULTS: For pregnanediol-3-glucuronide, there were no genome-wide significant associations; for oestrone-3-glucuronide, we identified a single peak mapping to the CYP3A locus, annotated by rs45446698. The minor rs45446698-C allele was associated with lower oestrone-3-glucuronide (-49.2%, 95% CI -56.1% to -41.1%, P = 3.1 × 10-18); in follow-up analyses, rs45446698-C was also associated with lower progesterone (-26.7%, 95% CI -39.4% to -11.6%, P = 0.001) and reduced risk of oestrogen and progesterone receptor-positive breast cancer (OR = 0.86, 95% CI 0.82-0.91, P = 6.9 × 10-8).CONCLUSIONS: The CYP3A7*1C allele is associated with reduced risk of hormone receptor-positive breast cancer possibly mediated via an effect on the metabolism of endogenous sex hormones in premenopausal women.
AB - 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 breast cancer risk.METHODS: We carried out a genome-wide association study of urinary oestrone-3-glucuronide and pregnanediol-3-glucuronide levels in 560 premenopausal women, with additional analysis of progesterone levels in 298 premenopausal women. To test for the association with breast cancer risk, we carried out follow-up genotyping in 90,916 cases and 89,893 controls from the Breast Cancer Association Consortium. All women were of European ancestry.RESULTS: For pregnanediol-3-glucuronide, there were no genome-wide significant associations; for oestrone-3-glucuronide, we identified a single peak mapping to the CYP3A locus, annotated by rs45446698. The minor rs45446698-C allele was associated with lower oestrone-3-glucuronide (-49.2%, 95% CI -56.1% to -41.1%, P = 3.1 × 10-18); in follow-up analyses, rs45446698-C was also associated with lower progesterone (-26.7%, 95% CI -39.4% to -11.6%, P = 0.001) and reduced risk of oestrogen and progesterone receptor-positive breast cancer (OR = 0.86, 95% CI 0.82-0.91, P = 6.9 × 10-8).CONCLUSIONS: The CYP3A7*1C allele is associated with reduced risk of hormone receptor-positive breast cancer possibly mediated via an effect on the metabolism of endogenous sex hormones in premenopausal women.
U2 - 10.1038/s41416-020-01185-w
DO - 10.1038/s41416-020-01185-w
M3 - SCORING: Journal article
C2 - 33495599
VL - 124
SP - 842
EP - 854
JO - BRIT J CANCER
JF - BRIT J CANCER
SN - 0007-0920
IS - 4
ER -