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Record W2125888450 · doi:10.1186/bcr3662

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

2014· article· en· W2125888450 on OpenAlex
Nichola Johnson, Frank Dudbridge, Nick Orr, Lorna J. Gibson, Michael E. Jones, Minouk J. Schoemaker, Elizabeth Folkerd, Ben P. Haynes, John L. Hopper, Melissa C. Southey, Gillian S. Dite, Carmel Apicella, Marjanka K. Schmidt, Annegien Broeks, Laura J. van’t Veer, Femke Atsma, Kenneth Muir, Artitaya Lophatananon, Peter A. Fasching, Matthias W. Beckmann, Arif B. Ekici, Stefan P. Renner, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Barbara Burwinkel, Frederik Marmé, Andreas Schneeweiß, Christof Sohn, Pascal Guénel, Thérèse Truong, Emilie Cordina, F. Ménégaux, Stig E. Bojesen, Børge G. Nordestgaard, Henrik Flyger, Roger L. Milne, M. Pilar Zamora, José Ignacio Arias Pérez, Javier Benı́tez, Leslie Bernstein, Hoda Anton‐Culver, Argyrios Ziogas, Christina Clarke Dur, Hermann Brenner, Heiko Müller, Volker Arndt, Aida Karina Dieffenbach, Alfons Meindl, Joerg Heil, Claus R. Bartram, Rita K. Schmutzler, Hiltrud Brauch, Christina Justenhoven, Yon‐Dschun Ko, Heli Nevanlinna, Taru Muranen, Kristiina Aittomäki, Carl Blomqvist, Keitaro Matsuo, Thilo Dörk, Natalia Bogdanova, Natalia Antonenkova, Annika Lindblom, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Georgia Chenevix‐Trench, Jonathan Beesley, Anna H. Wu, David Van Den Berg, Chiu-Chen Tseng, Diether Lambrechts, Dominiek Smeets, Patrick Neven, Hans Wildiers, Jenny Chang‐Claude, Anja Rudolph, Stefan Nickels, Dieter Flesch‐Janys, Paolo Radice, Paolo Peterlongo, Bernardo Bonanni, Valeria Pensotti, Fergus J. Couch, Janet E. Olson, Xianshu Wang, Zachary Fredericksen, V. Shane Pankratz, Graham G. Giles, Gianluca Severi, Laura Baglietto, C.A. Haiman, Jacques Simard, Mark S. Goldberg, France Labrèche, Martine Dumont, Penny Soucy, Soo‐Hwang Teo, Cheng Har Yip, Sze Yee Phuah, Belinda K. Cornes, Vessela N. Kristensen, Grethe Grenaker Alnæs, Anne‐Lise Børresen‐Dale, Wei Zheng, Robert Winqvist, Katri Pylkäs, Arja Jukkola‐Vuorinen, Mervi Grip, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Anna Marie Mulligan, Peter Devillee, Jonine D. Figueroa, Stephen J. Chanock, Jolanta Lissowska, Mark E. Sherman, Per Hall, Nils Schoof, Maartje J. Hooning, Antoinette Hollestelle, Rogier A. Oldenburg, Madeleine M.A. Tilanus‐Linthorst, Jianjun Liu, Ian W. Brock, Malcolm Reed, Simon S. Cross, William J. Blot, Lisa B. Signorello, Paul D.P. Pharoah, Alison M. Dunning, Mitul Shah, Daehee Kang, Dong‐Young Noh, Sue K. Park, Ji‐Yeob Choi, Mikael Hartman, Hui Miao, Wei Yen Lim, Anthony Tang, Ute Hamann, Asta Försti, Thomas Rüdiger, Hans Ulrich Ulmer, Anna Jakubowska, Jan Lubiński, Katarzyna Jaworska–Bieniek, Katarzyna Durda, Suleeporn Sangrajrang, Valérie Gaborieau, Paul Brennan, James McKay, Susan Slager, Amanda E. Toland, Celine M. Vachon, Drakoulis Yannoukakos, Chen‐Yang Shen, Jyh-Cherng Yu, Chiun‐Sheng Huang, Ming‐Feng Hou, Anna González‐Neira, Daniel C. Tessier, Daniel Vincent, François Bacot, Craig Luccarini, Joe Dennis, Kyriaki Michailidou, Manjeet K. Bolla, Jean Wang, Douglas F. Easton, Montserrat García‐Closas, Mitch Dowsett, Alan Ashworth, Anthony J. Swerdlow, Julian Peto, Isabel dos‐Santos‐Silva, Olivia Fletcher

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueBreast Cancer Research · 2014
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGlutathione Transferases and Polymorphisms
Canadian institutionsMcGill University and Génome Québec Innovation CentreUniversity Health NetworkLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalCentre hospitalier de l'Université LavalUniversité du QuébecHôtel-Dieu de QuébecMcGill University Health CentreMcGill UniversityUniversity of TorontoCentre hospitalier universitaire de QuébecRoyal Victoria HospitalCanada Research Chairs
FundersMedical Research and Materiel CommandNational Cancer InstituteUniversitätsklinikum Hamburg-EppendorfBiomedical Research CouncilMedical Research CouncilCanadian Institutes of Health ResearchU.S. ArmyNational Institutes of HealthMinistero dello Sviluppo EconomicoNational Health and Medical Research CouncilOulun YliopistoDeutsche KrebshilfeMedizinischen Hochschule HannoverNorges ForskningsrådLeids Universitair Medisch CentrumKuopion Yliopistollinen SairaalaNational Medical Research CouncilEberhard Karls Universität TübingenMinistério da Ciência, Tecnologia e InovaçãoBundesministerium für Bildung und ForschungMinisterio de Economía y CompetitividadKementerian Sains, Teknologi dan InovasiRobert Bosch StiftungSingapore Eye Research InstituteNational Breast Cancer FoundationEuropean CommissionAcademy of FinlandKing's College LondonWellcome TrustFondation du cancer du sein du QuébecRheinische Friedrich-Wilhelms-Universität BonnBreast Cancer Research TrustKWF KankerbestrijdingHerlev HospitalCancer Council TasmaniaWorld Health OrganizationCancer Research UKNational Institute for Health and Care ResearchAssociazione Italiana per la Ricerca sul CancroMinistry of Public HealthItä-Suomen YliopistoMinistère du Développement Économique, de l’Innovation et de l’ExportationLon V. Smith FoundationAgency for Science, Technology and ResearchDeutsche Gesetzliche UnfallversicherungSusan G. KomenMcGill University Health CentreDavid F. and Margaret T. Grohne Family FoundationCancer Care OntarioGénome QuébecDeutsches KrebsforschungszentrumBreast Cancer Research FoundationMcGill UniversitySundhed og Sygdom, Det Frie ForskningsrådCancer Council VictoriaCalifornia Department of Public HealthHelsingin ja Uudenmaan SairaanhoitopiiriCalifornia Breast Cancer Research ProgramU.S. Department of Health and Human Services
KeywordsSurgical oncologyMenarcheBreast cancerMedicineVariation (astronomy)OncologyGenetic variationInternal medicineCancerEnvironmental health

Abstract

fetched live from OpenAlex

INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years. METHODS: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics. RESULTS: We confirmed the association of rs10235235 with breast cancer risk for women of European ancestry but found no evidence that this association differed with age at diagnosis. Heterozygote and homozygote odds ratios (ORs) were OR = 0.98 (95% CI 0.94, 1.01; P = 0.2) and OR = 0.80 (95% CI 0.69, 0.93; P = 0.004), respectively (P(trend) = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (P(trend) = 0.005) but not cases (P(trend) = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (P(het) = 0.02); the rare allele of rs10235235 was associated with a reduction in breast cancer risk for women who had their menarche age ≥15 years (OR(het) = 0.84, 95% CI 0.75, 0.94; OR(hom) = 0.81, 95% CI 0.51, 1.30; P(trend) = 0.002) but not for those who had their menarche age ≤11 years (OR(het) = 1.06, 95% CI 0.95, 1.19, OR(hom) = 1.07, 95% CI 0.67, 1.72; P(trend) = 0.29). CONCLUSIONS: To our knowledge rs10235235 is the first single nucleotide polymorphism to be associated with both breast cancer risk and age at menarche consistent with the well-documented association between later age at menarche and a reduction in breast cancer risk. These associations are likely mediated via an effect on circulating hormone levels.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.164
Threshold uncertainty score0.993

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0010.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.019
GPT teacher head0.303
Teacher spread0.284 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it