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Genetic Variants in Hormone-Related Genes and Risk of Breast Cancer

Publication Date: July 23, 2013
Journal: PLOS ONE
Authors: Tess Clendenen, Anne Zeleniuch Jacquotte, Isaac Wirgin, Karen L. Koenig, et al
Volume: 8
Issue: 7
Pages: e69367
DOI: https://dx.plos.org/10.1371/journal.pone.0069367
Publisher URL: http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0069367
PubMed: http://www.ncbi.nlm.nih.gov/pubmed/23935996
PubMed Central: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720532
Europe PMC: http://europepmc.org/abstract/MED/23935996
Web of Science: 000325211000109
Scopus: 84880713567
Mendeley: http://www.mendeley.com/research/genetic-variants-hormonerelated-genes-risk-breast-cancer-1

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{"title"=>"Genetic Variants in Hormone-Related Genes and Risk of Breast Cancer", "type"=>"journal", "authors"=>[{"first_name"=>"Tess", "last_name"=>"Clendenen", "scopus_author_id"=>"23033846200"}, {"first_name"=>"Anne", "last_name"=>"Zeleniuch-Jacquotte", "scopus_author_id"=>"7005250660"}, {"first_name"=>"Isaac", "last_name"=>"Wirgin", "scopus_author_id"=>"7003695246"}, {"first_name"=>"Karen L.", "last_name"=>"Koenig", "scopus_author_id"=>"7102611020"}, {"first_name"=>"Yelena", "last_name"=>"Afanasyeva", "scopus_author_id"=>"6507687419"}, {"first_name"=>"Eva", "last_name"=>"Lundin", "scopus_author_id"=>"7003473965"}, {"first_name"=>"Alan A.", "last_name"=>"Arslan", "scopus_author_id"=>"56238185300"}, {"first_name"=>"Tomas", "last_name"=>"Axelsson", "scopus_author_id"=>"8104820900"}, {"first_name"=>"Asta", "last_name"=>"Försti", "scopus_author_id"=>"7003447292"}, {"first_name"=>"Göran", "last_name"=>"Hallmans", "scopus_author_id"=>"7006749585"}, {"first_name"=>"Kari", "last_name"=>"Hemminki", "scopus_author_id"=>"36044571800"}, {"first_name"=>"Per", "last_name"=>"Lenner", "scopus_author_id"=>"7005739870"}, {"first_name"=>"Nirmal", "last_name"=>"Roy", "scopus_author_id"=>"7101831735"}, {"first_name"=>"Roy E.", "last_name"=>"Shore", "scopus_author_id"=>"16937175900"}, {"first_name"=>"Yu", "last_name"=>"Chen", "scopus_author_id"=>"55938424600"}], "year"=>2013, "source"=>"PLoS ONE", "identifiers"=>{"pmid"=>"23935996", "doi"=>"10.1371/journal.pone.0069367", "sgr"=>"84880713567", "isbn"=>"1932-6203", "scopus"=>"2-s2.0-84880713567", "issn"=>"19326203", "pui"=>"369424050"}, "id"=>"89e94b12-4350-3183-a346-114f6ba58d66", "abstract"=>"Sex hormones play a key role in the development of breast cancer. Certain polymorphic variants (SNPs and repeat polymorphisms) in hormone-related genes are associated with sex hormone levels. However, the relationship observed between these genetic variants and breast cancer risk has been inconsistent. We conducted a case-control study nested within two prospective cohorts to assess the relationship between specific genetic variants in hormone-related genes and breast cancer risk. In total, 1164 cases and 2111 individually-matched controls were included in the study. We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. Our results suggest that these genetic variants do not have a strong effect on breast cancer risk.", "link"=>"http://www.mendeley.com/research/genetic-variants-hormonerelated-genes-risk-breast-cancer-1", "reader_count"=>5, "reader_count_by_academic_status"=>{"Student > Postgraduate"=>1, "Student > Bachelor"=>1, "Unspecified"=>1, "Student > Ph. D. Student"=>1, "Student > Master"=>1}, "reader_count_by_user_role"=>{"Student > Postgraduate"=>1, "Student > Bachelor"=>1, "Unspecified"=>1, "Student > Ph. D. Student"=>1, "Student > Master"=>1}, "reader_count_by_subject_area"=>{"Medicine and Dentistry"=>2, "Psychology"=>1, "Unspecified"=>1, "Nursing and Health Professions"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>2}, "Psychology"=>{"Psychology"=>1}, "Nursing and Health Professions"=>{"Nursing and Health Professions"=>1}, "Unspecified"=>{"Unspecified"=>1}}, "group_count"=>0}

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{"files"=>["https://ndownloader.figshare.com/files/1127014"], "description"=>"aFor parous women only.bHRT use during follow-up (for NYUWHS) or use history assessed at enrollment (NSMSC).cp-values were estimated using logistic regression conditional on matching sets.", "links"=>[], "tags"=>["Evolutionary biology", "population genetics", "Genetic polymorphism", "genetics", "Genetics of disease", "Diagnostic medicine", "pathology", "Clinical pathology", "Molecular genetics", "epidemiology", "Cancer epidemiology", "Genetic epidemiology", "Obstetrics and gynecology", "breast cancer", "oncology", "Cancers and neoplasms", "Breast tumors", "variables", "cancer"], "article_id"=>751981, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Tess Clendenen", "Anne Zeleniuch-Jacquotte", "Isaac Wirgin", "Karen L. Koenig", "Yelena Afanasyeva", "Eva Lundin", "Alan A. Arslan", "Tomas Axelsson", "Asta Försti", "Göran Hallmans", "Kari Hemminki", "Per Lenner", "Nirmal Roy", "Roy E. Shore", "Yu Chen"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0069367.t001", "stats"=>{"downloads"=>0, "page_views"=>1, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Distributions_of_demographic_and_lifestyle_variables_by_breast_cancer_status_/751981", "title"=>"Distributions of demographic and lifestyle variables by breast cancer status.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-07-23 02:33:19"}
{"files"=>["https://ndownloader.figshare.com/files/1127015"], "description"=>"aModels were adjusted for ethnicity (Caucasian, African American, Hispanic) and through matching, were also adjusted for age at blood donation, duration of sample storage, and menopausal status.bModels were adjusted for ethnicity (Caucasian, African American, Hispanic), age at first birth/parity (≤20 years, 21–25 years, 26–30 years, >30 years, nulliparous), age at menarche, family history of breast cancer, ever use of HRT, and BMI, and through matching, were also adjusted for age at blood donation, duration of sample storage, and menopausal status.cFor each genetic variant (except PGR-12 rs1042838), the genotype associated with higher estrogen exposure (see below) was assigned a value of 1 and other genotypes (homozygous and heterozygous for the lower estrogen exposure allele) were assigned 0. A score was created by adding the values. Women with four or five high estrogen variables were grouped because there were too few women with five high estrogen variables to assess separately (3 cases/4 controls).Notes: For each genotype, variants are listed in order of expected increasing estrogen (or progesterone for PGR-12) exposure:SHBG (rs6259) A allele is associated with higher SHBG levels. SHBG binds to estrogens and reduces their bioavailability. G allele = higher estrogen exposure.PGR-12 (rs1042838) T allele has been shown to reduce the PGR transcript stability and the response to progesterone. G allele = higher progesterone exposure.ESR1 (rs2234693) C allele may be associated with increased ERα transcription. C allele = possible higher exposure to estrogen signaling.CYP19 3′UTR (rs10046) T allele is associated with increased transcriptional activity of aromatase (converts androgens to estrogens). T allele = higher estrogen exposure.CYP19 5′Flank (rs4775936) A allele is associated with increased transcriptional activity of aromatase (converts androgens to estrogens). A allele = higher estrogen exposure.UGT1A1 (rs8175347) 7 repeat allele is associated with reduced glucuronidation (and clearance) of estrogens. 7 repeat allele = higher estrogen exposure.", "links"=>[], "tags"=>["Evolutionary biology", "population genetics", "Genetic polymorphism", "genetics", "Genetics of disease", "Diagnostic medicine", "pathology", "Clinical pathology", "Molecular genetics", "epidemiology", "Cancer epidemiology", "Genetic epidemiology", "Obstetrics and gynecology", "breast cancer", "oncology", "Cancers and neoplasms", "Breast tumors", "variants", "hormone-related", "genes", "cancer", "pre-", "post-menopausal"], "article_id"=>751982, "categories"=>["Medicine", "Biological Sciences"], "users"=>["Tess Clendenen", "Anne Zeleniuch-Jacquotte", "Isaac Wirgin", "Karen L. Koenig", "Yelena Afanasyeva", "Eva Lundin", "Alan A. Arslan", "Tomas Axelsson", "Asta Försti", "Göran Hallmans", "Kari Hemminki", "Per Lenner", "Nirmal Roy", "Roy E. Shore", "Yu Chen"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0069367.t002", "stats"=>{"downloads"=>1, "page_views"=>13, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Associations_between_genetic_variants_in_hormone_related_genes_and_breast_cancer_risk_in_pre_and_post_menopausal_women_/751982", "title"=>"Associations between genetic variants in hormone-related genes and breast cancer risk in pre- and post-menopausal women.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-07-23 02:33:19"}

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Relative Metric 8610305 Apr 19:04 UTC

Relative Metric

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