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024 7 _ |a 10.1038/s41416-020-01185-w
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024 7 _ |a pmid:33495599
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024 7 _ |a 0007-0920
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024 7 _ |a 1532-1827
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024 7 _ |a altmetric:98783705
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037 _ _ |a DKFZ-2021-00209
041 _ _ |a eng
082 _ _ |a 610
100 1 _ |a Johnson, Nichola
|0 0000-0002-8230-5662
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245 _ _ |a CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers.
260 _ _ |a Edinburgh
|c 2021
|b Nature Publ. Group
336 7 _ |a article
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336 7 _ |a ARTICLE
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336 7 _ |a Journal Article
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500 _ _ |a 2021 Feb;124(4):842-854
520 _ _ |a 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.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.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).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.
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920 1 _ |0 I:(DE-He78)C080-20160331
|k C080
|l Molekulare Epidemiologie
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920 1 _ |0 I:(DE-He78)C055-20160331
|k C055
|l C055 Genomische Epidemiologie
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920 1 _ |0 I:(DE-He78)B072-20160331
|k B072
|l B072 Molekulargenetik des Mammakarzinoms
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920 1 _ |0 I:(DE-He78)B070-20160331
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|l B070 Funktionelle Genomanalyse
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980 _ _ |a journal
980 _ _ |a VDB
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980 _ _ |a I:(DE-He78)C070-20160331
980 _ _ |a I:(DE-He78)C120-20160331
980 _ _ |a I:(DE-He78)HD01-20160331
980 _ _ |a I:(DE-He78)C080-20160331
980 _ _ |a I:(DE-He78)C055-20160331
980 _ _ |a I:(DE-He78)B072-20160331
980 _ _ |a I:(DE-He78)B070-20160331
980 _ _ |a UNRESTRICTED


LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21