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CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Authors :
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
Beckmann, Matthias W.
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
Børresen-Dale, Anne-Lise
Alnæs, Grethe I. Grenaker
Sahlberg, Kristine K.
Ottestad, Lars
Kåresen, Rolf
Schlichting, Ellen
Holmen, Marit Muri
Sauer, Toril
Haakensen, Vilde
Engebråten, Olav
Naume, Bjørn
Fosså, Alexander
Kiserud, Cecile E.
Reinertsen, Kristin V.
Helland, Åslaug
Riis, Margit
Geisler, Jürgen
Bowtell, David D. L.
deFazio, Anna
Webb, Penelope M.
Clarke, Christine
Marsh, Deborah
Scott, Rodney
Baxter, Robert
Yip, Desmond
Carpenter, Jane
Davis, Alison
Pathmanathan, Nirmala
Simpson, Peter
Graham, Dinny
Sachchithananthan, Mythily
Amor, David
Andrews, Lesley
Antill, Yoland
Balleine, Rosemary
Beesley, Jonathan
Bennett, Ian
Bogwitz, Michael
Botes, Leon
Brennan, Meagan
Brown, Melissa
Buckley, Michael
Burke, Jo
Butow, Phyllis
Caldon, Liz
Campbell, Ian
Chauhan, Deepa
Chauhan, Manisha
Christian, Alice
Cohen, Paul
Colley, Alison
Crook, Ashley
Cui, James
Cummings, Margaret
Dawson, Sarah-Jane
DeFazio, Anna
Delatycki, Martin
Dickson, Rebecca
Dixon, Joanne
Edkins, Ted
Edwards, Stacey
Farshid, Gelareh
Fellows, Andrew
Fenton, Georgina
Field, Michael
Flanagan, James
Fong, Peter
Forrest, Laura
Fox, Stephen
French, Juliet
Friedlander, Michael
Gaff, Clara
Gattas, Mike
George, Peter
Greening, Sian
Harris, Marion
Hart, Stewart
Hayward, Nick
Hopper, John
Hoskins, Cass
Hunt, Clare
James, Paul
Jenkins, Mark
Kidd, Alexa
Kirk, Judy
Koehler, Jessica
Kollias, James
Lakhani, Sunil
Lawrence, Mitchell
Lindeman, Geoff
Lipton, Lara
Lobb, Liz
Mann, Graham
McLachlan, Sue Anne
Meiser, Bettina
Milne, Roger
Nightingale, Sophie
O’Connell, Shona
O’Sullivan, Sarah
Ortega, David Gallego
Pachter, Nick
Patterson, Briony
Pearn, Amy
Phillips, Kelly
Pieper, Ellen
Rickard, Edwina
Robinson, Bridget
Saleh, Mona
Salisbury, Elizabeth
Saunders, Christobel
Saunus, Jodi
Scott, Clare
Sexton, Adrienne
Shelling, Andrew
Southey, Melissa
Spurdle, Amanda
Taylor, Jessica
Taylor, Renea
Thorne, Heather
Trainer, Alison
Tucker, Kathy
Visvader, Jane
Walker, Logan
Williams, Rachael
Winship, Ingrid
Young, Mary Ann
Johnson, Nichola [0000-0002-8230-5662]
Kapoor, Pooja Middha [0000-0001-5503-8215]
Dennis, Joe [0000-0003-4591-1214]
Brenner, Hermann [0000-0002-6129-1572]
Canzian, Federico [0000-0002-4261-4583]
Cox, Angela [0000-0002-5138-1099]
Fasching, Peter A. [0000-0003-4885-8471]
Hart, Steven N. [0000-0001-7714-2734]
Jakubowska, Anna [0000-0002-5650-0501]
Kurian, Allison W. [0000-0002-6175-9470]
Peterlongo, Paolo [0000-0001-6951-6855]
Sawyer, Elinor J. [0000-0001-8285-4111]
Tomlinson, Ian [0000-0003-3037-1470]
Truong, Thérèse [0000-0002-2943-6786]
Pharoah, Paul D. P. [0000-0001-8494-732X]
Peto, Julian [0000-0002-1685-8912]
Apollo - University of Cambridge Repository
Medical Oncology
HUS Comprehensive Cancer Center
Department of Oncology
Clinicum
Helsinki University Hospital Area
University of Helsinki
HUS Gynecology and Obstetrics
Department of Obstetrics and Gynecology
Fasching, Peter A [0000-0003-4885-8471]
Hart, Steven N [0000-0001-7714-2734]
Kurian, Allison W [0000-0002-6175-9470]
Sawyer, Elinor J [0000-0001-8285-4111]
Pharoah, Paul DP [0000-0001-8494-732X]
Source :
NBCS Collaborators 2021, ' CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers ', British Journal of Cancer, vol. 124, no. 4, pp. 842-854 . https://doi.org/10.1038/s41416-020-01185-w, British Journal of Cancer, British Journal of Cancer, 124(4), 842-854. SPRINGERNATURE, Johnson, N, Maguire, S, Morra, A, Kapoor, P M, Tomczyk, K, Jones, M E, Schoemaker, M J, Gilham, C, Bolla, M K, Wang, Q, Dennis, J, Ahearn, T U, Andrulis, I L, Anton-culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Augustinsson, A, Baynes, C, Freeman, L E B, Beckmann, M W, Benitez, J, Bermisheva, M, Blomqvist, C, Boeckx, B, Bogdanova, N V, Bojesen, S E, Brauch, H, Brenner, H, Burwinkel, B, Campa, D, Canzian, F, Castelao, J E, Chanock, S J, Chenevix-trench, G, Clarke, C L, Conroy, D M, Couch, F J, Cox, A, Cross, S S, Czene, K, Dörk, T, Eliassen, A H, Engel, C, Evans, D G, Fasching, P A, Figueroa, J, Floris, G, Flyger, H, Gago-dominguez, M, Gapstur, S M, García-closas, M, Gaudet, M M, Giles, G G, Goldberg, M S, González-neira, A, Guénel, P, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hart, S N, Hooning, M J, Hopper, J L, Howell, A, Hunter, D J, Jager, A, Jakubowska, A, John, E M, Kaaks, R, Keeman, R, Khusnutdinova, E, Kitahara, C M, Kosma, V, Koutros, S, Kraft, P, Kristensen, V N, Kurian, A W, Lambrechts, D, Le Marchand, L, Linet, M, Lubiński, J, Mannermaa, A, Manoukian, S, Margolin, S, Martens, J W M, Mavroudis, D, Mayes, R, Meindl, A, Milne, R L, Neuhausen, S L, Nevanlinna, H, Newman, W G, Nielsen, S F, Nordestgaard, B G, Obi, N, Olshan, A F, Olson, J E, Olsson, H, Orban, E, Park-simon, T, Peterlongo, P, Plaseska-karanfilska, D, Pylkäs, K, Rennert, G, Rennert, H S, Ruddy, K J, Saloustros, E, Sandler, D P, Sawyer, E J, Schmutzler, R K, Scott, C, Shu, X, Simard, J, Smichkoska, S, Sohn, C, Southey, M C, Spinelli, J J, Stone, J, Tamimi, R M, Taylor, J A, Tollenaar, R A E M, Tomlinson, I, Troester, M A, Truong, T, Vachon, C M, Van Veen, E M, Wang, S S, Weinberg, C R, Wendt, C, Wildiers, H, Winqvist, R, Wolk, A, Zheng, W, Ziogas, A, Dunning, A M, Pharoah, P D P, Easton, D F, Howie, A F, Peto, J, Dos-santos-silva, I, Swerdlow, A J, Chang-claude, J, Schmidt, M K, Orr, N & Fletcher, O 2021, ' CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers ', British Journal of Cancer . https://doi.org/10.1038/s41416-020-01185-w, British Journal of Cancer, 124(4), 842-854. Nature Publishing Group, Johnson, N, Maguire, S, Morra, A, Kapoor, P M, Tomczyk, K, Jones, M E, Schoemaker, M J, Gilham, C, Bolla, M K, Wang, Q, Dennis, J, Ahearn, T U, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Augustinsson, A, Baynes, C, Freeman, L E B, Beckmann, M W, Benitez, J, Bermisheva, M, Blomqvist, C, Boeckx, B, Bogdanova, N V, Bojesen, S E, Brauch, H, Brenner, H, Burwinkel, B, Campa, D, Canzian, F, Castelao, J E, Chanock, S J, Chenevix-Trench, G, Clarke, C L, Børresen-Dale, A L, Alnæs, G I G, Sahlberg, K K, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, M M, Sauer, T, Haakensen, V, Riis, M, Flyger, H, Nielsen, S F, Nordestgaard, B G, Scott, C, NBCS Collaborators, AOCS Group, ABCTB Investigators & kConFab Investigators 2021, ' CYP3A7*1C allele : linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers ', British Journal of Cancer, vol. 124, no. 4, pp. 842-854 . https://doi.org/10.1038/s41416-020-01185-w
Publication Year :
2021

Abstract

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.

Details

Language :
English
ISSN :
00070920
Database :
OpenAIRE
Journal :
NBCS Collaborators 2021, ' CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers ', British Journal of Cancer, vol. 124, no. 4, pp. 842-854 . https://doi.org/10.1038/s41416-020-01185-w, British Journal of Cancer, British Journal of Cancer, 124(4), 842-854. SPRINGERNATURE, Johnson, N, Maguire, S, Morra, A, Kapoor, P M, Tomczyk, K, Jones, M E, Schoemaker, M J, Gilham, C, Bolla, M K, Wang, Q, Dennis, J, Ahearn, T U, Andrulis, I L, Anton-culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Augustinsson, A, Baynes, C, Freeman, L E B, Beckmann, M W, Benitez, J, Bermisheva, M, Blomqvist, C, Boeckx, B, Bogdanova, N V, Bojesen, S E, Brauch, H, Brenner, H, Burwinkel, B, Campa, D, Canzian, F, Castelao, J E, Chanock, S J, Chenevix-trench, G, Clarke, C L, Conroy, D M, Couch, F J, Cox, A, Cross, S S, Czene, K, Dörk, T, Eliassen, A H, Engel, C, Evans, D G, Fasching, P A, Figueroa, J, Floris, G, Flyger, H, Gago-dominguez, M, Gapstur, S M, García-closas, M, Gaudet, M M, Giles, G G, Goldberg, M S, González-neira, A, Guénel, P, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hart, S N, Hooning, M J, Hopper, J L, Howell, A, Hunter, D J, Jager, A, Jakubowska, A, John, E M, Kaaks, R, Keeman, R, Khusnutdinova, E, Kitahara, C M, Kosma, V, Koutros, S, Kraft, P, Kristensen, V N, Kurian, A W, Lambrechts, D, Le Marchand, L, Linet, M, Lubiński, J, Mannermaa, A, Manoukian, S, Margolin, S, Martens, J W M, Mavroudis, D, Mayes, R, Meindl, A, Milne, R L, Neuhausen, S L, Nevanlinna, H, Newman, W G, Nielsen, S F, Nordestgaard, B G, Obi, N, Olshan, A F, Olson, J E, Olsson, H, Orban, E, Park-simon, T, Peterlongo, P, Plaseska-karanfilska, D, Pylkäs, K, Rennert, G, Rennert, H S, Ruddy, K J, Saloustros, E, Sandler, D P, Sawyer, E J, Schmutzler, R K, Scott, C, Shu, X, Simard, J, Smichkoska, S, Sohn, C, Southey, M C, Spinelli, J J, Stone, J, Tamimi, R M, Taylor, J A, Tollenaar, R A E M, Tomlinson, I, Troester, M A, Truong, T, Vachon, C M, Van Veen, E M, Wang, S S, Weinberg, C R, Wendt, C, Wildiers, H, Winqvist, R, Wolk, A, Zheng, W, Ziogas, A, Dunning, A M, Pharoah, P D P, Easton, D F, Howie, A F, Peto, J, Dos-santos-silva, I, Swerdlow, A J, Chang-claude, J, Schmidt, M K, Orr, N & Fletcher, O 2021, ' CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers ', British Journal of Cancer . https://doi.org/10.1038/s41416-020-01185-w, British Journal of Cancer, 124(4), 842-854. Nature Publishing Group, Johnson, N, Maguire, S, Morra, A, Kapoor, P M, Tomczyk, K, Jones, M E, Schoemaker, M J, Gilham, C, Bolla, M K, Wang, Q, Dennis, J, Ahearn, T U, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Augustinsson, A, Baynes, C, Freeman, L E B, Beckmann, M W, Benitez, J, Bermisheva, M, Blomqvist, C, Boeckx, B, Bogdanova, N V, Bojesen, S E, Brauch, H, Brenner, H, Burwinkel, B, Campa, D, Canzian, F, Castelao, J E, Chanock, S J, Chenevix-Trench, G, Clarke, C L, Børresen-Dale, A L, Alnæs, G I G, Sahlberg, K K, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, M M, Sauer, T, Haakensen, V, Riis, M, Flyger, H, Nielsen, S F, Nordestgaard, B G, Scott, C, NBCS Collaborators, AOCS Group, ABCTB Investigators & kConFab Investigators 2021, ' CYP3A7*1C allele : linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers ', British Journal of Cancer, vol. 124, no. 4, pp. 842-854 . https://doi.org/10.1038/s41416-020-01185-w
Accession number :
edsair.doi.dedup.....79c80976e607f7f5adac25ce2443816d