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

Nichola Johnson; Frank Dudbridge; Nick Orr; Lorna Gibson; Michael E Jones; Minouk J Schoemaker; Elizabeth J 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 Sawyer; Ian Tomlinson; Michael Kerin; Nicola Miller; Barbara Burwinkel; Frederik Marme; Andreas Schneeweiss; Christof Sohn; Pascal Guénel; Therese Truong; Emilie Cordina; Florence Menegaux; Stig E Bojesen; Børge G Nordestgaard; Henrik Flyger; Roger Milne; M Pilar Zamora; Jose Ignacio Arias Perez; Javier Benitez; 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 A Muranen; Kristiina Aittomäki; Carl Blomqvist; Keitaro Matsuo; Thilo Dörk; Natalia V Bogdanova; Natalia N Antonenkova; Annika Lindblom; Arto Mannermaa; 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; Vernon S Pankratz; Graham G Giles; Gianluca Severi; Laura Baglietto; Chris Haiman; Jacques Simard; Mark S Goldberg; France Labrèche; Martine Dumont; Penny Soucy; Soo 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 Figueroa; Stephen J Chanock; Jolanta Lissowska; Mark E Sherman; Per Hall; Nils Schoof; Maartje Hooning; Antoinette Hollestelle; Rogier A Oldenburg; Madeleine Tilanus-Linthorst; Jianjun Liu; Angie Cox; Ian W Brock; Malcolm Wr Reed; Simon S Cross; William Blot; Lisa B Signorello; Paul Dp 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 Lubinski; Katarzyna Jaworska-Bieniek; Katarzyna Durda; Suleeporn Sangrajrang; Valerie Gaborieau; Paul Brennan; James McKay; Susan Slager; Amanda E Toland; Celine Vachon; Drakoulis Yannoukakos; Chen-Yang Shen; Jyh-Cherng Yu; Chiun-Sheng Huang; Ming-Feng Hou; Anna González-Neira; Daniel C Tessier; Daniel Vincent; Francois 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

doi:10.1186/bcr3662

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

Nichola Johnson, Frank Dudbridge, Nick Orr, Lorna Gibson, Michael E Jones, Minouk J Schoemaker, Elizabeth J 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 BeckmannArif B Ekici, Stefan P Renner, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Nicola Miller, Barbara Burwinkel, Frederik Marme, Andreas Schneeweiss, Christof Sohn, Pascal Guénel, Therese Truong, Emilie Cordina, Florence Menegaux, Stig E Bojesen, Børge G Nordestgaard, Henrik Flyger, Roger Milne, M Pilar Zamora, Jose Ignacio Arias Perez, Javier Benitez, 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 A Muranen, Kristiina Aittomäki, Carl Blomqvist, Keitaro Matsuo, Thilo Dörk, Natalia V Bogdanova, Natalia N Antonenkova, Annika Lindblom, Arto Mannermaa, 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, Vernon S Pankratz, Graham G Giles, Gianluca Severi, Laura Baglietto, Chris Haiman, Jacques Simard, Mark S Goldberg, France Labrèche, Martine Dumont, Penny Soucy, Soo 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 Figueroa, Stephen J Chanock, Jolanta Lissowska, Mark E Sherman, Per Hall, Nils Schoof, Maartje Hooning, Antoinette Hollestelle, Rogier A Oldenburg, Madeleine Tilanus-Linthorst, Jianjun Liu, Angie Cox, Ian W Brock, Malcolm Wr Reed, Simon S Cross, William Blot, Lisa B Signorello, Paul Dp 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 Lubinski, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Suleeporn Sangrajrang, Valerie Gaborieau, Paul Brennan, James McKay, Susan Slager, Amanda E Toland, Celine Vachon, Drakoulis Yannoukakos, Chen-Yang Shen, Jyh-Cherng Yu, Chiun-Sheng Huang, Ming-Feng Hou, Anna González-Neira, Daniel C Tessier, Daniel Vincent, Francois 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

Institut for Klinisk Medicin

9 Citationer (Scopus)

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 (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.

Originalsprog	Engelsk
Tidsskrift	Breast cancer research : BCR
Vol/bind	16
Udgave nummer	3
Sider (fra-til)	R51
ISSN	1465-5411
DOI	https://doi.org/10.1186/bcr3662
Status	Udgivet - 2014

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10.1186/bcr3662

Citationsformater

Johnson, N., Dudbridge, F., Orr, N., Gibson, L., Jones, M. E., Schoemaker, M. J., Folkerd, E. J., Haynes, B. P., Hopper, J. L., Southey, M. C., Dite, G. S., Apicella, C., Schmidt, M. K., Broeks, A., Van T Veer, L. J., Atsma, F., Muir, K., Lophatananon, A., Fasching, P. A., ... Fletcher, O. (2014). Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study. Breast cancer research : BCR, 16(3), R51. https://doi.org/10.1186/bcr3662

Johnson, N, Dudbridge, F, Orr, N, Gibson, L, Jones, ME, Schoemaker, MJ, Folkerd, EJ, Haynes, BP, Hopper, JL, Southey, MC, Dite, GS, Apicella, C, Schmidt, MK, Broeks, A, Van T Veer, LJ, Atsma, F, Muir, K, Lophatananon, A, Fasching, PA, Beckmann, MW, Ekici, AB, Renner, SP, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Guénel, P, Truong, T, Cordina, E, Menegaux, F, Bojesen, SE , Nordestgaard, BG, Flyger, H, Milne, R, Zamora, MP, Arias Perez, JI, Benitez, J, Bernstein, L, Anton-Culver, H, Ziogas, A, Clarke Dur, C, Brenner, H, Müller, H, Arndt, V, Dieffenbach, AK, Meindl, A, Heil, J, Bartram, CR, Schmutzler, RK, Brauch, H, Justenhoven, C, Ko, Y-D, Nevanlinna, H, Muranen, TA, Aittomäki, K, Blomqvist, C, Matsuo, K, Dörk, T, Bogdanova, NV, Antonenkova, NN, Lindblom, A, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Chenevix-Trench, G, Beesley, J, Wu, AH, Van den Berg, D, Tseng, C-C, Lambrechts, D, Smeets, D, Neven, P, Wildiers, H, Chang-Claude, J, Rudolph, A, Nickels, S, Flesch-Janys, D, Radice, P, Peterlongo, P, Bonanni, B, Pensotti, V, Couch, FJ, Olson, JE, Wang, X, Fredericksen, Z, Pankratz, VS, Giles, GG, Severi, G, Baglietto, L, Haiman, C, Simard, J, Goldberg, MS, Labrèche, F, Dumont, M, Soucy, P, Teo, S, Yip, CH, Phuah, SY, Cornes, BK, Kristensen, VN, Grenaker Alnæs, G, Børresen-Dale, A-L, Zheng, W, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Devillee, P, Figueroa, J, Chanock, SJ, Lissowska, J, Sherman, ME, Hall, P, Schoof, N, Hooning, M, Hollestelle, A, Oldenburg, RA, Tilanus-Linthorst, M, Liu, J, Cox, A, Brock, IW, Reed, MW, Cross, SS, Blot, W, Signorello, LB, Pharoah, PD, Dunning, AM, Shah, M, Kang, D, Noh, D-Y, Park, SK, Choi, J-Y, Hartman, M, Miao, H, Lim, WY, Tang, A, Hamann, U, Försti, A, Rüdiger, T, Ulmer, HU, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Sangrajrang, S, Gaborieau, V, Brennan, P, McKay, J, Slager, S, Toland, AE, Vachon, C, Yannoukakos, D, Shen, C-Y, Yu, J-C, Huang, C-S, Hou, M-F, González-Neira, A, Tessier, DC, Vincent, D, Bacot, F, Luccarini, C, Dennis, J, Michailidou, K, Bolla, MK, Wang, J, Easton, DF, García-Closas, M, Dowsett, M, Ashworth, A, Swerdlow, AJ, Peto, J, Dos Santos Silva, I & Fletcher, O 2014, 'Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study', Breast cancer research : BCR, bind 16, nr. 3, s. R51. https://doi.org/10.1186/bcr3662

@article{4ca2afb60a494dfe9948dd0d014f5a4f,

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

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 (Ptrend = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (Ptrend = 0.005) but not cases (Ptrend = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (Phet = 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; Ptrend = 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; Ptrend = 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.",

author = "Nichola Johnson and Frank Dudbridge and Nick Orr and Lorna Gibson and Jones, {Michael E} and Schoemaker, {Minouk J} and Folkerd, {Elizabeth J} and Haynes, {Ben P} and Hopper, {John L} and Southey, {Melissa C} and Dite, {Gillian S} and Carmel Apicella and Schmidt, {Marjanka K} and Annegien Broeks and {Van T Veer}, {Laura J} and Femke Atsma and Kenneth Muir and Artitaya Lophatananon and Fasching, {Peter A} and Beckmann, {Matthias W} and Ekici, {Arif B} and Renner, {Stefan P} and Elinor Sawyer and Ian Tomlinson and Michael Kerin and Nicola Miller and Barbara Burwinkel and Frederik Marme and Andreas Schneeweiss and Christof Sohn and Pascal Gu{\'e}nel and Therese Truong and Emilie Cordina and Florence Menegaux and Bojesen, {Stig E} and Nordestgaard, {B{\o}rge G} and Henrik Flyger and Roger Milne and Zamora, {M Pilar} and {Arias Perez}, {Jose Ignacio} and Javier Benitez and Leslie Bernstein and Hoda Anton-Culver and Argyrios Ziogas and {Clarke Dur}, Christina and Hermann Brenner and Heiko M{\"u}ller and Volker Arndt and Dieffenbach, {Aida Karina} and Alfons Meindl and Joerg Heil and Bartram, {Claus R} and Schmutzler, {Rita K} and Hiltrud Brauch and Christina Justenhoven and Yon-Dschun Ko and Heli Nevanlinna and Muranen, {Taru A} and Kristiina Aittom{\"a}ki and Carl Blomqvist and Keitaro Matsuo and Thilo D{\"o}rk and Bogdanova, {Natalia V} and Antonenkova, {Natalia N} and Annika Lindblom and Arto Mannermaa and Vesa Kataja and Veli-Matti Kosma and Hartikainen, {Jaana M} and Georgia Chenevix-Trench and Jonathan Beesley and Wu, {Anna H} and {Van den Berg}, David and Chiu-Chen Tseng and Diether Lambrechts and Dominiek Smeets and Patrick Neven and Hans Wildiers and Jenny Chang-Claude and Anja Rudolph and Stefan Nickels and Dieter Flesch-Janys and Paolo Radice and Paolo Peterlongo and Bernardo Bonanni and Valeria Pensotti and Couch, {Fergus J} and Olson, {Janet E} and Xianshu Wang and Zachary Fredericksen and Pankratz, {Vernon S} and Giles, {Graham G} and Gianluca Severi and Laura Baglietto and Chris Haiman and Jacques Simard and Goldberg, {Mark S} and France Labr{\`e}che and Martine Dumont and Penny Soucy and Soo Teo and Yip, {Cheng Har} and Phuah, {Sze Yee} and Cornes, {Belinda K} and Kristensen, {Vessela N} and {Grenaker Aln{\ae}s}, Grethe and Anne-Lise B{\o}rresen-Dale and Wei Zheng and Robert Winqvist and Katri Pylk{\"a}s and Arja Jukkola-Vuorinen and Mervi Grip and Andrulis, {Irene L} and Knight, {Julia A} and Gord Glendon and Mulligan, {Anna Marie} and Peter Devillee and Jonine Figueroa and Chanock, {Stephen J} and Jolanta Lissowska and Sherman, {Mark E} and Per Hall and Nils Schoof and Maartje Hooning and Antoinette Hollestelle and Oldenburg, {Rogier A} and Madeleine Tilanus-Linthorst and Jianjun Liu and Angie Cox and Brock, {Ian W} and Reed, {Malcolm Wr} and Cross, {Simon S} and William Blot and Signorello, {Lisa B} and Pharoah, {Paul Dp} and Dunning, {Alison M} and Mitul Shah and Daehee Kang and Dong-Young Noh and Park, {Sue K} and Ji-Yeob Choi and Mikael Hartman and Hui Miao and Lim, {Wei Yen} and Anthony Tang and Ute Hamann and Asta F{\"o}rsti and Thomas R{\"u}diger and Ulmer, {Hans Ulrich} and Anna Jakubowska and Jan Lubinski and Katarzyna Jaworska-Bieniek and Katarzyna Durda and Suleeporn Sangrajrang and Valerie Gaborieau and Paul Brennan and James McKay and Susan Slager and Toland, {Amanda E} and Celine Vachon and Drakoulis Yannoukakos and Chen-Yang Shen and Jyh-Cherng Yu and Chiun-Sheng Huang and Ming-Feng Hou and Anna Gonz{\'a}lez-Neira and Tessier, {Daniel C} and Daniel Vincent and Francois Bacot and Craig Luccarini and Joe Dennis and Kyriaki Michailidou and Bolla, {Manjeet K} and Jean Wang and Easton, {Douglas F} and Montserrat Garc{\'i}a-Closas and Mitch Dowsett and Alan Ashworth and Swerdlow, {Anthony J} and Julian Peto and {Dos Santos Silva}, Isabel and Olivia Fletcher",

year = "2014",

doi = "10.1186/bcr3662",

language = "English",

volume = "16",

pages = "R51",

journal = "Breast Cancer Research",

issn = "1465-5411",

publisher = "BioMed Central Ltd.",

number = "3",

}

TY - JOUR

T1 - Genetic variation at CYP3A is associated with age at menarche and breast cancer risk

T2 - a case-control study

AU - Johnson, Nichola

AU - Dudbridge, Frank

AU - Orr, Nick

AU - Gibson, Lorna

AU - Jones, Michael E

AU - Schoemaker, Minouk J

AU - Folkerd, Elizabeth J

AU - Haynes, Ben P

AU - Hopper, John L

AU - Southey, Melissa C

AU - Dite, Gillian S

AU - Apicella, Carmel

AU - Schmidt, Marjanka K

AU - Broeks, Annegien

AU - Van T Veer, Laura J

AU - Atsma, Femke

AU - Muir, Kenneth

AU - Lophatananon, Artitaya

AU - Fasching, Peter A

AU - Beckmann, Matthias W

AU - Ekici, Arif B

AU - Renner, Stefan P

AU - Sawyer, Elinor

AU - Tomlinson, Ian

AU - Kerin, Michael

AU - Miller, Nicola

AU - Burwinkel, Barbara

AU - Marme, Frederik

AU - Schneeweiss, Andreas

AU - Sohn, Christof

AU - Guénel, Pascal

AU - Truong, Therese

AU - Cordina, Emilie

AU - Menegaux, Florence

AU - Bojesen, Stig E

AU - Nordestgaard, Børge G

AU - Flyger, Henrik

AU - Milne, Roger

AU - Zamora, M Pilar

AU - Arias Perez, Jose Ignacio

AU - Benitez, Javier

AU - Bernstein, Leslie

AU - Anton-Culver, Hoda

AU - Ziogas, Argyrios

AU - Clarke Dur, Christina

AU - Brenner, Hermann

AU - Müller, Heiko

AU - Arndt, Volker

AU - Dieffenbach, Aida Karina

AU - Meindl, Alfons

AU - Heil, Joerg

AU - Bartram, Claus R

AU - Schmutzler, Rita K

AU - Brauch, Hiltrud

AU - Justenhoven, Christina

AU - Ko, Yon-Dschun

AU - Nevanlinna, Heli

AU - Muranen, Taru A

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Matsuo, Keitaro

AU - Dörk, Thilo

AU - Bogdanova, Natalia V

AU - Antonenkova, Natalia N

AU - Lindblom, Annika

AU - Mannermaa, Arto

AU - Kataja, Vesa

AU - Kosma, Veli-Matti

AU - Hartikainen, Jaana M

AU - Chenevix-Trench, Georgia

AU - Beesley, Jonathan

AU - Wu, Anna H

AU - Van den Berg, David

AU - Tseng, Chiu-Chen

AU - Lambrechts, Diether

AU - Smeets, Dominiek

AU - Neven, Patrick

AU - Wildiers, Hans

AU - Chang-Claude, Jenny

AU - Rudolph, Anja

AU - Nickels, Stefan

AU - Flesch-Janys, Dieter

AU - Radice, Paolo

AU - Peterlongo, Paolo

AU - Bonanni, Bernardo

AU - Pensotti, Valeria

AU - Couch, Fergus J

AU - Olson, Janet E

AU - Wang, Xianshu

AU - Fredericksen, Zachary

AU - Pankratz, Vernon S

AU - Giles, Graham G

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - Haiman, Chris

AU - Simard, Jacques

AU - Goldberg, Mark S

AU - Labrèche, France

AU - Dumont, Martine

AU - Soucy, Penny

AU - Teo, Soo

AU - Yip, Cheng Har

AU - Phuah, Sze Yee

AU - Cornes, Belinda K

AU - Kristensen, Vessela N

AU - Grenaker Alnæs, Grethe

AU - Børresen-Dale, Anne-Lise

AU - Zheng, Wei

AU - Winqvist, Robert

AU - Pylkäs, Katri

AU - Jukkola-Vuorinen, Arja

AU - Grip, Mervi

AU - Andrulis, Irene L

AU - Knight, Julia A

AU - Glendon, Gord

AU - Mulligan, Anna Marie

AU - Devillee, Peter

AU - Figueroa, Jonine

AU - Chanock, Stephen J

AU - Lissowska, Jolanta

AU - Sherman, Mark E

AU - Hall, Per

AU - Schoof, Nils

AU - Hooning, Maartje

AU - Hollestelle, Antoinette

AU - Oldenburg, Rogier A

AU - Tilanus-Linthorst, Madeleine

AU - Liu, Jianjun

AU - Cox, Angie

AU - Brock, Ian W

AU - Reed, Malcolm Wr

AU - Cross, Simon S

AU - Blot, William

AU - Signorello, Lisa B

AU - Pharoah, Paul Dp

AU - Dunning, Alison M

AU - Shah, Mitul

AU - Kang, Daehee

AU - Noh, Dong-Young

AU - Park, Sue K

AU - Choi, Ji-Yeob

AU - Hartman, Mikael

AU - Miao, Hui

AU - Lim, Wei Yen

AU - Tang, Anthony

AU - Hamann, Ute

AU - Försti, Asta

AU - Rüdiger, Thomas

AU - Ulmer, Hans Ulrich

AU - Jakubowska, Anna

AU - Lubinski, Jan

AU - Jaworska-Bieniek, Katarzyna

AU - Durda, Katarzyna

AU - Sangrajrang, Suleeporn

AU - Gaborieau, Valerie

AU - Brennan, Paul

AU - McKay, James

AU - Slager, Susan

AU - Toland, Amanda E

AU - Vachon, Celine

AU - Yannoukakos, Drakoulis

AU - Shen, Chen-Yang

AU - Yu, Jyh-Cherng

AU - Huang, Chiun-Sheng

AU - Hou, Ming-Feng

AU - González-Neira, Anna

AU - Tessier, Daniel C

AU - Vincent, Daniel

AU - Bacot, Francois

AU - Luccarini, Craig

AU - Dennis, Joe

AU - Michailidou, Kyriaki

AU - Bolla, Manjeet K

AU - Wang, Jean

AU - Easton, Douglas F

AU - García-Closas, Montserrat

AU - Dowsett, Mitch

AU - Ashworth, Alan

AU - Swerdlow, Anthony J

AU - Peto, Julian

AU - Dos Santos Silva, Isabel

AU - Fletcher, Olivia

PY - 2014

Y1 - 2014

N2 - 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 (Ptrend = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (Ptrend = 0.005) but not cases (Ptrend = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (Phet = 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; Ptrend = 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; Ptrend = 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.

AB - 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 (Ptrend = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (Ptrend = 0.005) but not cases (Ptrend = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (Phet = 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; Ptrend = 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; Ptrend = 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.

U2 - 10.1186/bcr3662

DO - 10.1186/bcr3662

M3 - Journal article

C2 - 24887515

SN - 1465-5411

VL - 16

SP - R51

JO - Breast Cancer Research

JF - Breast Cancer Research

IS - 3

ER -

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

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