CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
Creators: name: Johnson, Nichola
name: Maguire, Sarah
name: Morra, Anna
name: Kapoor, Pooja Middha
name: Tomczyk, Katarzyna
name: Jones, Michael E.
name: Schoemaker, Minouk J.
name: Gilham, Clare
name: Bolla, Manjeet K.
name: Wang, Qin
name: Dennis, Joe
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name: Andrulis, Irene L.
name: Anton-Culver, Hoda
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name: Arndt, Volker
name: Aronson, Kristan J.
name: Augustinsson, Annelie
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name: Freeman, Laura E. Beane
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name: Bogdanova, Natalia V.
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name: Clarke, Christine L.
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name: Couch, Fergus J.
name: Cox, Angela
name: Cross, Simon S.
name: Czene, Kamila
name: Dörk, Thilo
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name: Reinertsen, Kristin V.
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name: Davis, Alison
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name: Friedlander, Michael
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name: Koehler, Jessica
name: Kollias, James
name: Lakhani, Sunil
name: Lawrence, Mitchell
name: Lindeman, Geoff
name: Lipton, Lara
name: Lobb, Liz
name: Mann, Graham
name: McLachlan, Sue Anne
name: Meiser, Bettina
name: Milne, Roger
name: Nightingale, Sophie
name: O’Connell, Shona
name: O’Sullivan, Sarah
name: Ortega, David Gallego
name: Pachter, Nick
name: Patterson, Briony
name: Pearn, Amy
name: Phillips, Kelly
name: Pieper, Ellen
name: Rickard, Edwina
name: Robinson, Bridget
name: Saleh, Mona
name: Salisbury, Elizabeth
name: Saunders, Christobel
name: Saunus, Jodi
name: Scott, Clare
name: Sexton, Adrienne
name: Shelling, Andrew
name: Southey, Melissa
name: Spurdle, Amanda
name: Taylor, Jessica
name: Taylor, Renea
name: Thorne, Heather
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name: Tucker, Kathy
name: Visvader, Jane
name: Walker, Logan
name: Williams, Rachael
name: Winship, Ingrid
name: Young, Mary Ann
Publisher: name: Apollo - University of Cambridge Repository
Year: 2021
Subjects: Article
/631/67/2324
/631/67/68
/631/67/1347
article

description: Funder: Breast Cancer Now (BCN); doi: https://doi.org/10.13039/100009794
description: Funder: Cancer Research UK (CRUK); doi: https://doi.org/10.13039/501100000289
description: Funder: RCUK | Medical Research Council (MRC); doi: https://doi.org/10.13039/501100000265
description: Funder: U.S. Department of Health &amp; Human Services | National Institutes of Health (NIH)
description: Funder: Wellcome Trust (Wellcome); doi: https://doi.org/10.13039/100004440
description: Funder: EC | EC Seventh Framework Programm | FP7 Ideas: European Research Council (FP7-IDEAS-ERC - Specific Programme: "Ideas" Implementing the Seventh Framework Programme of the European Community for Research, Technological Development and Demonstration Activities (2007 to 2013)); doi: https://doi.org/10.13039/100011199; Grant(s): HEALTH-F2-2009-223175, HEALTH-F2-2009-223175
description: Funder: Genome Canada (Génome Canada); doi: https://doi.org/10.13039/100008762
description: Funder: Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada); doi: https://doi.org/10.13039/501100000024
description: Funder: Quebec Breast cancer Foundation Genome Quebec
description: Funder: U.S. Department of Health &amp; Human Services | NIH | U.S. National Library of Medicine (NLM); doi: https://doi.org/10.13039/100000092
description: Funder: EC | EC Seventh Framework Programm | FP7 Ideas: European Research Council (FP7-IDEAS-ERC - Specific Programme: "Ideas" Implementing the Seventh Framework Programme of the European Community for Research, Technological Development and Demonstration Activities (2007 to 2013))
description: Funder: European Union’s Horizon 2020
description: Funder: Deutsche Krebshilfe (German Cancer Aid); doi: https://doi.org/10.13039/501100005972
description: Funder: BCAST - European Union’s Horizon 2020
description: Funder: Breast Cancer Now; doi: https://doi.org/10.13039/501100007913
description: 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.