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A comprehensive ana...
A comprehensive analysis of polymorphic variants in steroid hormone and insulin-like growth factor-1 metabolism and risk of in situ breast cancer : Results from the Breast and Prostate Cancer Cohort Consortium
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- Barrdahl, Myrto (author)
- German Cancer Research Centre
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- Canzian, Federico (author)
- German Cancer Research Centre
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Gaudet, Mia M. (author)
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Gapstur, Susan M. (author)
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- Trichopoulou, Antonia (author)
- Hellenic Health Foundation, Athens
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- Tsilidis, Kostas (author)
- Imperial College London
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- van Gils, Carla H. (author)
- University Medical Center Utrecht
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- Borgquist, Signe (author)
- Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Bröstcancer - prevention & intervention,Forskargrupper vid Lunds universitet,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Breast cancer prevention & intervention,Lund University Research Groups,Skåne University Hospital
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- Weiderpass, Elisabete (author)
- Karolinska Institutet,Karolinska Institute
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- Khaw, Kay Tee (author)
- University of Cambridge
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- Giles, Graham G. (author)
- University of Melbourne
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- Milne, Roger L. (author)
- University of Melbourne
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- Le Marchand, Loic (author)
- University of Hawai'i at Hilo
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- Haiman, Christopher (author)
- University of Southern California
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- Lindström, Sara (author)
- Fred Hutchinson Cancer Research Center
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- Kraft, Peter (author)
- Harvard University
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- Hunter, David J. (author)
- Harvard University
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- Ziegler, Regina (author)
- National Cancer Institute, NCI
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Chanock, Stephen J. (author)
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Yang, Xiaohong R. (author)
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- Buring, Julie E. (author)
- Brigham and Women's Hospital / Harvard Medical School
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- Lee, I. Min (author)
- Brigham and Women's Hospital / Harvard Medical School
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- Kaaks, Rudolf (author)
- German Cancer Research Centre
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- Campa, Daniele (author)
- University of Pisa
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(creator_code:org_t)
- 2017-11-17
- 2018
- English.
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In: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 142:6, s. 1182-1188
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Abstract
Subject headings
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- We assessed the association between 1,414 single nucleotide polymorphisms (SNPs) in genes involved in synthesis and metabolism of steroid hormones and insulin-like growth factor 1, and risk of breast cancer in situ (BCIS), with the aim of determining whether any of these were disease specific. This was carried out using 1,062 BCIS cases and 10,126 controls as well as 6,113 invasive breast cancer cases from the Breast and Prostate Cancer Cohort Consortium (BPC3). Three SNPs showed at least one nominally significant association in homozygous minor versus homozygous major models. ACVR2A-rs2382112 (ORhom=3.05, 95%CI=1.72-5.44, Phom=1.47 × 10-4), MAST2-rs12124649 (ORhom=1.73, 95% CI =1.18-2.54, Phom=5.24 × 10-3), and INSR-rs10500204 (ORhom=1.96, 95% CI=1.44-2.67, Phom=1.68 × 10-5) were associated with increased risk of BCIS; however, only the latter association was significant after correcting for multiple testing. Furthermore, INSR-rs10500204 was more strongly associated with the risk of BCIS than invasive disease in case-only analyses using the homozygous minor versus homozygous major model (ORhom=1.78, 95% CI=1.30-2.44, Phom=3.23 × 10-4). The SNP INSR-rs10500204 is located in an intron of the INSR gene and is likely to affect binding of the promyelocytic leukemia (PML) protein. The PML gene is known as a tumor suppressor and growth regulator in cancer. However, it is not clear on what pathway the A-allele of rs10500204 could operate to influence the binding of the protein. Hence, functional studies are warranted to investigate this further.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- BPC3
- Breast cancer in situ
- Genetic epidemiology
- Single nucleotide polymorphisms
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Barrdahl, Myrto
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Canzian, Federic ...
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Gaudet, Mia M.
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Gapstur, Susan M ...
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Trichopoulou, An ...
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Tsilidis, Kostas
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show more...
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van Gils, Carla ...
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Borgquist, Signe
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Weiderpass, Elis ...
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Khaw, Kay Tee
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Giles, Graham G.
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Milne, Roger L.
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Le Marchand, Loi ...
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Haiman, Christop ...
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Lindström, Sara
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Kraft, Peter
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Hunter, David J.
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Ziegler, Regina
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Chanock, Stephen ...
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Yang, Xiaohong R ...
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Buring, Julie E.
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Lee, I. Min
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Kaaks, Rudolf
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Campa, Daniele
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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International Jo ...
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Lund University
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Karolinska Institutet