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

Hdl Handle:
http://hdl.handle.net/10147/560427
Title:
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study
Authors:
Johnson, Nichola; Dudbridge, Frank; Orr, Nick; Gibson, Lorna; Jones, Michael E; Schoemaker, Minouk J; Folkerd, Elizabeth J; Haynes, Ben P; Hopper, John L; Southey, Melissa C; Dite, Gillian S; Apicella, Carmel; Schmidt, Marjanka K; Broeks, Annegien; Van’t Veer, Laura J; Atsma, Femke; Muir, Kenneth; Lophatananon, Artitaya; Fasching, Peter A; Beckmann, Matthias W; Ekici, Arif B; Renner, Stefan P; Sawyer, Elinor; Tomlinson, Ian; Kerin, Michael; Miller, Nicola; Burwinkel, Barbara; Marme, Frederik; Schneeweiss, Andreas; Sohn, Christof; Guénel, Pascal; Truong, Therese; Cordina, Emilie; Menegaux, Florence; Bojesen, Stig E; Nordestgaard, Børge G; Flyger, Henrik; Milne, Roger; Zamora, M P; Arias Perez, Jose I; Benitez, Javier; Bernstein, Leslie; Anton-Culver, Hoda; Ziogas, Argyrios; Clarke Dur, Christina; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Dieffenbach, Aida K; Meindl, Alfons; Heil, Joerg; Bartram, Claus R; Schmutzler, Rita K; Brauch, Hiltrud; Justenhoven, Christina; Ko, Yon-Dschun; The GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Matsuo, Keitaro; Dörk, Thilo; Bogdanova, Natalia V; Antonenkova, Natalia N; Lindblom, Annika; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Chenevix-Trench, Georgia; Beesley, Jonathan; kConFab Investigators; Australian Ovarian Cancer Study Group; Wu, Anna H; Van den Berg, David; Tseng, Chiu-Chen; Lambrechts, Diether; Smeets, Dominiek; Neven, Patrick; Wildiers, Hans; Chang-Claude, Jenny; Rudolph, Anja; Nickels, Stefan; Flesch-Janys, Dieter; Radice, Paolo; Peterlongo, Paolo; Bonanni, Bernardo; Pensotti, Valeria; Couch, Fergus J; Olson, Janet E; Wang, Xianshu; Fredericksen, Zachary; Pankratz, Vernon S; Giles, Graham G; Severi, Gianluca; Baglietto, Laura; Haiman, Chris; Simard, Jacques; Goldberg, Mark S; Labrèche, France; Dumont, Martine; Soucy, Penny; Teo, Soo; Yip, Cheng H; Phuah, Sze Y; Cornes, Belinda K; Kristensen, Vessela N; Grenaker Alnæs, Grethe; Børresen-Dale, Anne-Lise; Zheng, Wei; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Mulligan, Anna M; Devillee, Peter; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Sherman, Mark E; Hall, Per; Schoof, Nils; Hooning, Maartje; Hollestelle, Antoinette; Oldenburg, Rogier A; Tilanus-Linthorst, Madeleine; Liu, Jianjun; Cox, Angie; Brock, Ian W; Reed, Malcolm WR; Cross, Simon S; Blot, William; Signorello, Lisa B; Pharoah, Paul DP; Dunning, Alison M; Shah, Mitul; Kang, Daehee; Noh, Dong-Young; Park, Sue K; Choi, Ji-Yeob; Hartman, Mikael; Miao, Hui; Lim, Wei Y; Tang, Anthony; Hamann, Ute; Försti, Asta; Rüdiger, Thomas; Ulmer, Hans U; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Slager, Susan; Toland, Amanda E; Vachon, Celine; Yannoukakos, Drakoulis; Shen, Chen-Yang; Yu, Jyh-Cherng; Huang, Chiun-Sheng; Hou, Ming-Feng; González-Neira, Anna; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Luccarini, Craig; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Jean; Easton, Douglas F; García-Closas, Montserrat; Dowsett, Mitch; Ashworth, Alan; Swerdlow, Anthony J; Peto, Julian; dos Santos Silva, Isabel; Fletcher, Olivia
Citation:
Breast Cancer Research. 2014 May 26;16(3):R51
Issue Date:
26-May-2014
URI:
http://dx.doi.org/10.1186/bcr3662; http://hdl.handle.net/10147/560427
Abstract:
Abstract 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 (ORhet = 0.84, 95% CI 0.75, 0.94; ORhom = 0.81, 95% CI 0.51, 1.30; P trend = 0.002) but not for those who had their menarche age ≤11 years (ORhet = 1.06, 95% CI 0.95, 1.19, ORhom = 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.
Language:
en
Keywords:
BREAST CANCER; GENETICS

Full metadata record

DC FieldValue Language
dc.contributor.authorJohnson, Nicholaen
dc.contributor.authorDudbridge, Franken
dc.contributor.authorOrr, Nicken
dc.contributor.authorGibson, Lornaen
dc.contributor.authorJones, Michael Een
dc.contributor.authorSchoemaker, Minouk Jen
dc.contributor.authorFolkerd, Elizabeth Jen
dc.contributor.authorHaynes, Ben Pen
dc.contributor.authorHopper, John Len
dc.contributor.authorSouthey, Melissa Cen
dc.contributor.authorDite, Gillian Sen
dc.contributor.authorApicella, Carmelen
dc.contributor.authorSchmidt, Marjanka Ken
dc.contributor.authorBroeks, Annegienen
dc.contributor.authorVan’t Veer, Laura Jen
dc.contributor.authorAtsma, Femkeen
dc.contributor.authorMuir, Kennethen
dc.contributor.authorLophatananon, Artitayaen
dc.contributor.authorFasching, Peter Aen
dc.contributor.authorBeckmann, Matthias Wen
dc.contributor.authorEkici, Arif Ben
dc.contributor.authorRenner, Stefan Pen
dc.contributor.authorSawyer, Elinoren
dc.contributor.authorTomlinson, Ianen
dc.contributor.authorKerin, Michaelen
dc.contributor.authorMiller, Nicolaen
dc.contributor.authorBurwinkel, Barbaraen
dc.contributor.authorMarme, Frederiken
dc.contributor.authorSchneeweiss, Andreasen
dc.contributor.authorSohn, Christofen
dc.contributor.authorGuénel, Pascalen
dc.contributor.authorTruong, Thereseen
dc.contributor.authorCordina, Emilieen
dc.contributor.authorMenegaux, Florenceen
dc.contributor.authorBojesen, Stig Een
dc.contributor.authorNordestgaard, Børge Gen
dc.contributor.authorFlyger, Henriken
dc.contributor.authorMilne, Rogeren
dc.contributor.authorZamora, M Pen
dc.contributor.authorArias Perez, Jose Ien
dc.contributor.authorBenitez, Javieren
dc.contributor.authorBernstein, Leslieen
dc.contributor.authorAnton-Culver, Hodaen
dc.contributor.authorZiogas, Argyriosen
dc.contributor.authorClarke Dur, Christinaen
dc.contributor.authorBrenner, Hermannen
dc.contributor.authorMüller, Heikoen
dc.contributor.authorArndt, Volkeren
dc.contributor.authorDieffenbach, Aida Ken
dc.contributor.authorMeindl, Alfonsen
dc.contributor.authorHeil, Joergen
dc.contributor.authorBartram, Claus Ren
dc.contributor.authorSchmutzler, Rita Ken
dc.contributor.authorBrauch, Hiltruden
dc.contributor.authorJustenhoven, Christinaen
dc.contributor.authorKo, Yon-Dschunen
dc.contributor.authorThe GENICA (Gene Environment Interaction and Breast Cancer in Germany) Networken
dc.contributor.authorNevanlinna, Helien
dc.contributor.authorMuranen, Taru Aen
dc.contributor.authorAittomäki, Kristiinaen
dc.contributor.authorBlomqvist, Carlen
dc.contributor.authorMatsuo, Keitaroen
dc.contributor.authorDörk, Thiloen
dc.contributor.authorBogdanova, Natalia Ven
dc.contributor.authorAntonenkova, Natalia Nen
dc.contributor.authorLindblom, Annikaen
dc.contributor.authorMannermaa, Artoen
dc.contributor.authorKataja, Vesaen
dc.contributor.authorKosma, Veli-Mattien
dc.contributor.authorHartikainen, Jaana Men
dc.contributor.authorChenevix-Trench, Georgiaen
dc.contributor.authorBeesley, Jonathanen
dc.contributor.authorkConFab Investigatorsen
dc.contributor.authorAustralian Ovarian Cancer Study Groupen
dc.contributor.authorWu, Anna Hen
dc.contributor.authorVan den Berg, Daviden
dc.contributor.authorTseng, Chiu-Chenen
dc.contributor.authorLambrechts, Dietheren
dc.contributor.authorSmeets, Dominieken
dc.contributor.authorNeven, Patricken
dc.contributor.authorWildiers, Hansen
dc.contributor.authorChang-Claude, Jennyen
dc.contributor.authorRudolph, Anjaen
dc.contributor.authorNickels, Stefanen
dc.contributor.authorFlesch-Janys, Dieteren
dc.contributor.authorRadice, Paoloen
dc.contributor.authorPeterlongo, Paoloen
dc.contributor.authorBonanni, Bernardoen
dc.contributor.authorPensotti, Valeriaen
dc.contributor.authorCouch, Fergus Jen
dc.contributor.authorOlson, Janet Een
dc.contributor.authorWang, Xianshuen
dc.contributor.authorFredericksen, Zacharyen
dc.contributor.authorPankratz, Vernon Sen
dc.contributor.authorGiles, Graham Gen
dc.contributor.authorSeveri, Gianlucaen
dc.contributor.authorBaglietto, Lauraen
dc.contributor.authorHaiman, Chrisen
dc.contributor.authorSimard, Jacquesen
dc.contributor.authorGoldberg, Mark Sen
dc.contributor.authorLabrèche, Franceen
dc.contributor.authorDumont, Martineen
dc.contributor.authorSoucy, Pennyen
dc.contributor.authorTeo, Sooen
dc.contributor.authorYip, Cheng Hen
dc.contributor.authorPhuah, Sze Yen
dc.contributor.authorCornes, Belinda Ken
dc.contributor.authorKristensen, Vessela Nen
dc.contributor.authorGrenaker Alnæs, Gretheen
dc.contributor.authorBørresen-Dale, Anne-Liseen
dc.contributor.authorZheng, Weien
dc.contributor.authorWinqvist, Roberten
dc.contributor.authorPylkäs, Katrien
dc.contributor.authorJukkola-Vuorinen, Arjaen
dc.contributor.authorGrip, Mervien
dc.contributor.authorAndrulis, Irene Len
dc.contributor.authorKnight, Julia Aen
dc.contributor.authorGlendon, Gorden
dc.contributor.authorMulligan, Anna Men
dc.contributor.authorDevillee, Peteren
dc.contributor.authorFigueroa, Jonineen
dc.contributor.authorChanock, Stephen Jen
dc.contributor.authorLissowska, Jolantaen
dc.contributor.authorSherman, Mark Een
dc.contributor.authorHall, Peren
dc.contributor.authorSchoof, Nilsen
dc.contributor.authorHooning, Maartjeen
dc.contributor.authorHollestelle, Antoinetteen
dc.contributor.authorOldenburg, Rogier Aen
dc.contributor.authorTilanus-Linthorst, Madeleineen
dc.contributor.authorLiu, Jianjunen
dc.contributor.authorCox, Angieen
dc.contributor.authorBrock, Ian Wen
dc.contributor.authorReed, Malcolm WRen
dc.contributor.authorCross, Simon Sen
dc.contributor.authorBlot, Williamen
dc.contributor.authorSignorello, Lisa Ben
dc.contributor.authorPharoah, Paul DPen
dc.contributor.authorDunning, Alison Men
dc.contributor.authorShah, Mitulen
dc.contributor.authorKang, Daeheeen
dc.contributor.authorNoh, Dong-Youngen
dc.contributor.authorPark, Sue Ken
dc.contributor.authorChoi, Ji-Yeoben
dc.contributor.authorHartman, Mikaelen
dc.contributor.authorMiao, Huien
dc.contributor.authorLim, Wei Yen
dc.contributor.authorTang, Anthonyen
dc.contributor.authorHamann, Uteen
dc.contributor.authorFörsti, Astaen
dc.contributor.authorRüdiger, Thomasen
dc.contributor.authorUlmer, Hans Uen
dc.contributor.authorJakubowska, Annaen
dc.contributor.authorLubinski, Janen
dc.contributor.authorJaworska-Bieniek, Katarzynaen
dc.contributor.authorDurda, Katarzynaen
dc.contributor.authorSangrajrang, Suleepornen
dc.contributor.authorGaborieau, Valerieen
dc.contributor.authorBrennan, Paulen
dc.contributor.authorMcKay, Jamesen
dc.contributor.authorSlager, Susanen
dc.contributor.authorToland, Amanda Een
dc.contributor.authorVachon, Celineen
dc.contributor.authorYannoukakos, Drakoulisen
dc.contributor.authorShen, Chen-Yangen
dc.contributor.authorYu, Jyh-Cherngen
dc.contributor.authorHuang, Chiun-Shengen
dc.contributor.authorHou, Ming-Fengen
dc.contributor.authorGonzález-Neira, Annaen
dc.contributor.authorTessier, Daniel Cen
dc.contributor.authorVincent, Danielen
dc.contributor.authorBacot, Francoisen
dc.contributor.authorLuccarini, Craigen
dc.contributor.authorDennis, Joeen
dc.contributor.authorMichailidou, Kyriakien
dc.contributor.authorBolla, Manjeet Ken
dc.contributor.authorWang, Jeanen
dc.contributor.authorEaston, Douglas Fen
dc.contributor.authorGarcía-Closas, Montserraten
dc.contributor.authorDowsett, Mitchen
dc.contributor.authorAshworth, Alanen
dc.contributor.authorSwerdlow, Anthony Jen
dc.contributor.authorPeto, Julianen
dc.contributor.authordos Santos Silva, Isabelen
dc.contributor.authorFletcher, Oliviaen
dc.date.accessioned2015-07-14T14:35:58Zen
dc.date.available2015-07-14T14:35:58Zen
dc.date.issued2014-05-26en
dc.identifier.citationBreast Cancer Research. 2014 May 26;16(3):R51en
dc.identifier.urihttp://dx.doi.org/10.1186/bcr3662en
dc.identifier.urihttp://hdl.handle.net/10147/560427en
dc.description.abstractAbstract 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 (ORhet = 0.84, 95% CI 0.75, 0.94; ORhom = 0.81, 95% CI 0.51, 1.30; P trend = 0.002) but not for those who had their menarche age ≤11 years (ORhet = 1.06, 95% CI 0.95, 1.19, ORhom = 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.en
dc.language.isoenen
dc.subjectBREAST CANCERen
dc.subjectGENETICSen
dc.titleGenetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control studyen
dc.language.rfc3066enen
dc.rights.holderNichola Johnson et al.; licensee BioMed Central Ltd.en
dc.description.statusPeer Revieweden
dc.date.updated2015-02-04T16:03:58Zen
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