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Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

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Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. / Lin, Wei-Yu; Camp, Nicola J; Ghoussaini, Maya; Beesley, Jonathan; Michailidou, Kyriaki; Hopper, John L; Apicella, Carmel; Southey, Melissa C; Stone, Jennifer; Schmidt, Marjanka K; Broeks, Annegien; Van't Veer, Laura J; Th Rutgers, Emiel J; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Fasching, Peter A; Haeberle, Lothar; Ekici, Arif B; Beckmann, Matthias W; Peto, Julian; Dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Sawyer, Elinor J; Cheng, Timothy; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Marmé, Frederik; Surowy, Harald M; Burwinkel, Barbara; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Mulot, Claire; Bojesen, Stig E; Nordestgaard, Børge G; Nielsen, Sune F; Flyger, Henrik; Benitez, Javier; Zamora, M Pilar; Arias Perez, Jose Ignacio; Menéndez, Primitiva; González-Neira, Anna; Pita, Guillermo; Alonso, M Rosario; Alvarez, Nuria; Herrero, Daniel; Anton-Culver, Hoda; Brenner, Hermann; Dieffenbach, Aida Karina; Arndt, Volker; Stegmaier, Christa; Meindl, Alfons; Lichtner, Peter; Schmutzler, Rita K; Müller-Myhsok, Bertram; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon-Dschun; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Nevanlinna, Heli; Aittomäki, Kristiina; Blomqvist, Carl; Khan, Sofia; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Horio, Akiyo; Bogdanova, Natalia V; Antonenkova, Natalia N; Dörk, Thilo; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Wu, Anna H; Tseng, Chiu-Chen; Van Den Berg, David; Stram, Daniel O; Neven, Patrick; Wauters, Els; Wildiers, Hans; Lambrechts, Diether; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Radice, Paolo; Peterlongo, Paolo; Manoukian, Siranoush; Bonanni, Bernardo; Couch, Fergus J; Wang, Xianshu; Vachon, Celine; Purrington, Kristen; Giles, Graham G; Milne, Roger L; Mclean, Catriona; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Simard, Jacques; Goldberg, Mark S; Labrèche, France; Dumont, Martine; Teo, Soo Hwang; Yip, Cheng Har; Hassan, Norhashimah; Vithana, Eranga Nishanthie; Kristensen, Vessela; Zheng, Wei; Deming-Halverson, Sandra; Shrubsole, Martha J; Long, Jirong; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Kauppila, Saila; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Tchatchou, Sandrine; Devilee, Peter; Tollenaar, Robert A E M; Seynaeve, Caroline; Van Asperen, Christi J; García-Closas, Montserrat; Figueroa, Jonine; Lissowska, Jolanta; Brinton, Louise; Czene, Kamila; Darabi, Hatef; Eriksson, Mikael; Brand, Judith S; Hooning, Maartje J; Hollestelle, Antoinette; Van Den Ouweland, Ans M W; Jager, Agnes; Li, Jingmei; Liu, Jianjun; Humphreys, Keith; Shu, Xiao-Ou; Lu, Wei; Gao, Yu-Tang; Cai, Hui; Cross, Simon S; Reed, Malcolm W R; Blot, William; Signorello, Lisa B; Cai, Qiuyin; Pharoah, Paul D P; Perkins, Barbara; Shah, Mitul; Blows, Fiona M; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Hartman, Mikael; Miao, Hui; Chia, Kee Seng; Putti, Thomas Choudary; Hamann, Ute; Luccarini, Craig; Baynes, Caroline; Ahmed, Shahana; Maranian, Mel; Healey, Catherine S; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; Mckay, James; Slager, Susan; Toland, Amanda E; Yannoukakos, Drakoulis; Shen, Chen-Yang; Hsiung, Chia-Ni; Wu, Pei-Ei; Ding, Shian-Ling; Ashworth, Alan; Jones, Michael; Orr, Nick; Swerdlow, Anthony J; Tsimiklis, Helen; Makalic, Enes; Schmidt, Daniel F; Bui, Quang M; Chanock, Stephen J; Hunter, David J; Hein, Rebecca; Dahmen, Norbert; Beckmann, Lars; Aaltonen, Kirsimari; Muranen, Taru A; Heikkinen, Tuomas; Irwanto, Astrid; Rahman, Nazneen; Turnbull, Clare A; Waisfisz, Quinten; Meijers-Heijboer, Hanne E J; Adank, Muriel A; Van Der Luijt, Rob B; Hall, Per; Chenevix-Trench, Georgia; Dunning, Alison; Easton, Douglas F; Cox, Angela; GENICA Network.

In: HUM MOL GENET, Vol. 24, No. 1, 01.01.2015, p. 285-98.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Lin, W-Y, Camp, NJ, Ghoussaini, M, Beesley, J, Michailidou, K, Hopper, JL, Apicella, C, Southey, MC, Stone, J, Schmidt, MK, Broeks, A, Van't Veer, LJ, Th Rutgers, EJ, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Fasching, PA, Haeberle, L, Ekici, AB, Beckmann, MW, Peto, J, Dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, MK, Wang, Q, Dennis, J, Sawyer, EJ, Cheng, T, Tomlinson, I, Kerin, MJ, Miller, N, Marmé, F, Surowy, HM, Burwinkel, B, Guénel, P, Truong, T, Menegaux, F, Mulot, C, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Benitez, J, Zamora, MP, Arias Perez, JI, Menéndez, P, González-Neira, A, Pita, G, Alonso, MR, Alvarez, N, Herrero, D, Anton-Culver, H, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Meindl, A, Lichtner, P, Schmutzler, RK, Müller-Myhsok, B, Brauch, H, Brüning, T, Ko, Y-D, Tessier, DC, Vincent, D, Bacot, F, Nevanlinna, H, Aittomäki, K, Blomqvist, C, Khan, S, Matsuo, K, Ito, H, Iwata, H, Horio, A, Bogdanova, NV, Antonenkova, NN, Dörk, T, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Wu, AH, Tseng, C-C, Van Den Berg, D, Stram, DO, Neven, P, Wauters, E, Wildiers, H, Lambrechts, D, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Radice, P, Peterlongo, P, Manoukian, S, Bonanni, B, Couch, FJ, Wang, X, Vachon, C, Purrington, K, Giles, GG, Milne, RL, Mclean, C, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Simard, J, Goldberg, MS, Labrèche, F, Dumont, M, Teo, SH, Yip, CH, Hassan, N, Vithana, EN, Kristensen, V, Zheng, W, Deming-Halverson, S, Shrubsole, MJ, Long, J, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Kauppila, S, Andrulis, IL, Knight, JA, Glendon, G, Tchatchou, S, Devilee, P, Tollenaar, RAEM, Seynaeve, C, Van Asperen, CJ, García-Closas, M, Figueroa, J, Lissowska, J, Brinton, L, Czene, K, Darabi, H, Eriksson, M, Brand, JS, Hooning, MJ, Hollestelle, A, Van Den Ouweland, AMW, Jager, A, Li, J, Liu, J, Humphreys, K, Shu, X-O, Lu, W, Gao, Y-T, Cai, H, Cross, SS, Reed, MWR, Blot, W, Signorello, LB, Cai, Q, Pharoah, PDP, Perkins, B, Shah, M, Blows, FM, Kang, D, Yoo, K-Y, Noh, D-Y, Hartman, M, Miao, H, Chia, KS, Putti, TC, Hamann, U, Luccarini, C, Baynes, C, Ahmed, S, Maranian, M, Healey, CS, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Slager, S, Toland, AE, Yannoukakos, D, Shen, C-Y, Hsiung, C-N, Wu, P-E, Ding, S-L, Ashworth, A, Jones, M, Orr, N, Swerdlow, AJ, Tsimiklis, H, Makalic, E, Schmidt, DF, Bui, QM, Chanock, SJ, Hunter, DJ, Hein, R, Dahmen, N, Beckmann, L, Aaltonen, K, Muranen, TA, Heikkinen, T, Irwanto, A, Rahman, N, Turnbull, CA, Waisfisz, Q, Meijers-Heijboer, HEJ, Adank, MA, Van Der Luijt, RB, Hall, P, Chenevix-Trench, G, Dunning, A, Easton, DF, Cox, A & GENICA Network 2015, 'Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk', HUM MOL GENET, vol. 24, no. 1, pp. 285-98. https://doi.org/10.1093/hmg/ddu431

APA

Lin, W-Y., Camp, N. J., Ghoussaini, M., Beesley, J., Michailidou, K., Hopper, J. L., Apicella, C., Southey, M. C., Stone, J., Schmidt, M. K., Broeks, A., Van't Veer, L. J., Th Rutgers, E. J., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P. A., Haeberle, L., ... GENICA Network (2015). Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. HUM MOL GENET, 24(1), 285-98. https://doi.org/10.1093/hmg/ddu431

Vancouver

Lin W-Y, Camp NJ, Ghoussaini M, Beesley J, Michailidou K, Hopper JL et al. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. HUM MOL GENET. 2015 Jan 1;24(1):285-98. https://doi.org/10.1093/hmg/ddu431

Bibtex

@article{99c8af4bdc994b55ba0e33d0d3c1bb0a,
title = "Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk",
abstract = "Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 × 10(-6)), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis.",
author = "Wei-Yu Lin and Camp, {Nicola J} and Maya Ghoussaini and Jonathan Beesley and Kyriaki Michailidou and Hopper, {John L} and Carmel Apicella and Southey, {Melissa C} and Jennifer Stone and Schmidt, {Marjanka K} and Annegien Broeks and {Van't Veer}, {Laura J} and {Th Rutgers}, {Emiel J} and Kenneth Muir and Artitaya Lophatananon and Sarah Stewart-Brown and Pornthep Siriwanarangsan and Fasching, {Peter A} and Lothar Haeberle and Ekici, {Arif B} and Beckmann, {Matthias W} and Julian Peto and Isabel Dos-Santos-Silva and Olivia Fletcher and Nichola Johnson and Bolla, {Manjeet K} and Qin Wang and Joe Dennis and Sawyer, {Elinor J} and Timothy Cheng and Ian Tomlinson and Kerin, {Michael J} and Nicola Miller and Frederik Marm{\'e} and Surowy, {Harald M} and Barbara Burwinkel and Pascal Gu{\'e}nel and Th{\'e}r{\`e}se Truong and Florence Menegaux and Claire Mulot and Bojesen, {Stig E} and Nordestgaard, {B{\o}rge G} and Nielsen, {Sune F} and Henrik Flyger and Javier Benitez and Zamora, {M Pilar} and {Arias Perez}, {Jose Ignacio} and Primitiva Men{\'e}ndez and Anna Gonz{\'a}lez-Neira and Guillermo Pita and Alonso, {M Rosario} and Nuria Alvarez and Daniel Herrero and Hoda Anton-Culver and Hermann Brenner and Dieffenbach, {Aida Karina} and Volker Arndt and Christa Stegmaier and Alfons Meindl and Peter Lichtner and Schmutzler, {Rita K} and Bertram M{\"u}ller-Myhsok and Hiltrud Brauch and Thomas Br{\"u}ning and Yon-Dschun Ko and Tessier, {Daniel C} and Daniel Vincent and Francois Bacot and Heli Nevanlinna and Kristiina Aittom{\"a}ki and Carl Blomqvist and Sofia Khan and Keitaro Matsuo and Hidemi Ito and Hiroji Iwata and Akiyo Horio and Bogdanova, {Natalia V} and Antonenkova, {Natalia N} and Thilo D{\"o}rk and Annika Lindblom and Sara Margolin and Arto Mannermaa and Vesa Kataja and Veli-Matti Kosma and Hartikainen, {Jaana M} and Wu, {Anna H} and Chiu-Chen Tseng and {Van Den Berg}, David and Stram, {Daniel O} and Patrick Neven and Els Wauters and Hans Wildiers and Diether Lambrechts and Jenny Chang-Claude and Anja Rudolph and Petra Seibold and Dieter Flesch-Janys and Paolo Radice and Paolo Peterlongo and Siranoush Manoukian and Bernardo Bonanni and Couch, {Fergus J} and Xianshu Wang and Celine Vachon and Kristen Purrington and Giles, {Graham G} and Milne, {Roger L} and Catriona Mclean and Haiman, {Christopher A} and Henderson, {Brian E} and Fredrick Schumacher and {Le Marchand}, Loic and Jacques Simard and Goldberg, {Mark S} and France Labr{\`e}che and Martine Dumont and Teo, {Soo Hwang} and Yip, {Cheng Har} and Norhashimah Hassan and Vithana, {Eranga Nishanthie} and Vessela Kristensen and Wei Zheng and Sandra Deming-Halverson and Shrubsole, {Martha J} and Jirong Long and Robert Winqvist and Katri Pylk{\"a}s and Arja Jukkola-Vuorinen and Saila Kauppila and Andrulis, {Irene L} and Knight, {Julia A} and Gord Glendon and Sandrine Tchatchou and Peter Devilee and Tollenaar, {Robert A E M} and Caroline Seynaeve and {Van Asperen}, {Christi J} and Montserrat Garc{\'i}a-Closas and Jonine Figueroa and Jolanta Lissowska and Louise Brinton and Kamila Czene and Hatef Darabi and Mikael Eriksson and Brand, {Judith S} and Hooning, {Maartje J} and Antoinette Hollestelle and {Van Den Ouweland}, {Ans M W} and Agnes Jager and Jingmei Li and Jianjun Liu and Keith Humphreys and Xiao-Ou Shu and Wei Lu and Yu-Tang Gao and Hui Cai and Cross, {Simon S} and Reed, {Malcolm W R} and William Blot and Signorello, {Lisa B} and Qiuyin Cai and Pharoah, {Paul D P} and Barbara Perkins and Mitul Shah and Blows, {Fiona M} and Daehee Kang and Keun-Young Yoo and Dong-Young Noh and Mikael Hartman and Hui Miao and Chia, {Kee Seng} and Putti, {Thomas Choudary} and Ute Hamann and Craig Luccarini and Caroline Baynes and Shahana Ahmed and Mel Maranian and Healey, {Catherine S} 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 Drakoulis Yannoukakos and Chen-Yang Shen and Chia-Ni Hsiung and Pei-Ei Wu and Shian-Ling Ding and Alan Ashworth and Michael Jones and Nick Orr and Swerdlow, {Anthony J} and Helen Tsimiklis and Enes Makalic and Schmidt, {Daniel F} and Bui, {Quang M} and Chanock, {Stephen J} and Hunter, {David J} and Rebecca Hein and Norbert Dahmen and Lars Beckmann and Kirsimari Aaltonen and Muranen, {Taru A} and Tuomas Heikkinen and Astrid Irwanto and Nazneen Rahman and Turnbull, {Clare A} and Quinten Waisfisz and Meijers-Heijboer, {Hanne E J} and Adank, {Muriel A} and {Van Der Luijt}, {Rob B} and Per Hall and Georgia Chenevix-Trench and Alison Dunning and Easton, {Douglas F} and Angela Cox and {GENICA Network}",
note = "{\textcopyright} The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.",
year = "2015",
month = jan,
day = "1",
doi = "10.1093/hmg/ddu431",
language = "English",
volume = "24",
pages = "285--98",
journal = "HUM MOL GENET",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "1",

}

RIS

TY - JOUR

T1 - Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

AU - Lin, Wei-Yu

AU - Camp, Nicola J

AU - Ghoussaini, Maya

AU - Beesley, Jonathan

AU - Michailidou, Kyriaki

AU - Hopper, John L

AU - Apicella, Carmel

AU - Southey, Melissa C

AU - Stone, Jennifer

AU - Schmidt, Marjanka K

AU - Broeks, Annegien

AU - Van't Veer, Laura J

AU - Th Rutgers, Emiel J

AU - Muir, Kenneth

AU - Lophatananon, Artitaya

AU - Stewart-Brown, Sarah

AU - Siriwanarangsan, Pornthep

AU - Fasching, Peter A

AU - Haeberle, Lothar

AU - Ekici, Arif B

AU - Beckmann, Matthias W

AU - Peto, Julian

AU - Dos-Santos-Silva, Isabel

AU - Fletcher, Olivia

AU - Johnson, Nichola

AU - Bolla, Manjeet K

AU - Wang, Qin

AU - Dennis, Joe

AU - Sawyer, Elinor J

AU - Cheng, Timothy

AU - Tomlinson, Ian

AU - Kerin, Michael J

AU - Miller, Nicola

AU - Marmé, Frederik

AU - Surowy, Harald M

AU - Burwinkel, Barbara

AU - Guénel, Pascal

AU - Truong, Thérèse

AU - Menegaux, Florence

AU - Mulot, Claire

AU - Bojesen, Stig E

AU - Nordestgaard, Børge G

AU - Nielsen, Sune F

AU - Flyger, Henrik

AU - Benitez, Javier

AU - Zamora, M Pilar

AU - Arias Perez, Jose Ignacio

AU - Menéndez, Primitiva

AU - González-Neira, Anna

AU - Pita, Guillermo

AU - Alonso, M Rosario

AU - Alvarez, Nuria

AU - Herrero, Daniel

AU - Anton-Culver, Hoda

AU - Brenner, Hermann

AU - Dieffenbach, Aida Karina

AU - Arndt, Volker

AU - Stegmaier, Christa

AU - Meindl, Alfons

AU - Lichtner, Peter

AU - Schmutzler, Rita K

AU - Müller-Myhsok, Bertram

AU - Brauch, Hiltrud

AU - Brüning, Thomas

AU - Ko, Yon-Dschun

AU - Tessier, Daniel C

AU - Vincent, Daniel

AU - Bacot, Francois

AU - Nevanlinna, Heli

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Khan, Sofia

AU - Matsuo, Keitaro

AU - Ito, Hidemi

AU - Iwata, Hiroji

AU - Horio, Akiyo

AU - Bogdanova, Natalia V

AU - Antonenkova, Natalia N

AU - Dörk, Thilo

AU - Lindblom, Annika

AU - Margolin, Sara

AU - Mannermaa, Arto

AU - Kataja, Vesa

AU - Kosma, Veli-Matti

AU - Hartikainen, Jaana M

AU - Wu, Anna H

AU - Tseng, Chiu-Chen

AU - Van Den Berg, David

AU - Stram, Daniel O

AU - Neven, Patrick

AU - Wauters, Els

AU - Wildiers, Hans

AU - Lambrechts, Diether

AU - Chang-Claude, Jenny

AU - Rudolph, Anja

AU - Seibold, Petra

AU - Flesch-Janys, Dieter

AU - Radice, Paolo

AU - Peterlongo, Paolo

AU - Manoukian, Siranoush

AU - Bonanni, Bernardo

AU - Couch, Fergus J

AU - Wang, Xianshu

AU - Vachon, Celine

AU - Purrington, Kristen

AU - Giles, Graham G

AU - Milne, Roger L

AU - Mclean, Catriona

AU - Haiman, Christopher A

AU - Henderson, Brian E

AU - Schumacher, Fredrick

AU - Le Marchand, Loic

AU - Simard, Jacques

AU - Goldberg, Mark S

AU - Labrèche, France

AU - Dumont, Martine

AU - Teo, Soo Hwang

AU - Yip, Cheng Har

AU - Hassan, Norhashimah

AU - Vithana, Eranga Nishanthie

AU - Kristensen, Vessela

AU - Zheng, Wei

AU - Deming-Halverson, Sandra

AU - Shrubsole, Martha J

AU - Long, Jirong

AU - Winqvist, Robert

AU - Pylkäs, Katri

AU - Jukkola-Vuorinen, Arja

AU - Kauppila, Saila

AU - Andrulis, Irene L

AU - Knight, Julia A

AU - Glendon, Gord

AU - Tchatchou, Sandrine

AU - Devilee, Peter

AU - Tollenaar, Robert A E M

AU - Seynaeve, Caroline

AU - Van Asperen, Christi J

AU - García-Closas, Montserrat

AU - Figueroa, Jonine

AU - Lissowska, Jolanta

AU - Brinton, Louise

AU - Czene, Kamila

AU - Darabi, Hatef

AU - Eriksson, Mikael

AU - Brand, Judith S

AU - Hooning, Maartje J

AU - Hollestelle, Antoinette

AU - Van Den Ouweland, Ans M W

AU - Jager, Agnes

AU - Li, Jingmei

AU - Liu, Jianjun

AU - Humphreys, Keith

AU - Shu, Xiao-Ou

AU - Lu, Wei

AU - Gao, Yu-Tang

AU - Cai, Hui

AU - Cross, Simon S

AU - Reed, Malcolm W R

AU - Blot, William

AU - Signorello, Lisa B

AU - Cai, Qiuyin

AU - Pharoah, Paul D P

AU - Perkins, Barbara

AU - Shah, Mitul

AU - Blows, Fiona M

AU - Kang, Daehee

AU - Yoo, Keun-Young

AU - Noh, Dong-Young

AU - Hartman, Mikael

AU - Miao, Hui

AU - Chia, Kee Seng

AU - Putti, Thomas Choudary

AU - Hamann, Ute

AU - Luccarini, Craig

AU - Baynes, Caroline

AU - Ahmed, Shahana

AU - Maranian, Mel

AU - Healey, Catherine S

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 - Yannoukakos, Drakoulis

AU - Shen, Chen-Yang

AU - Hsiung, Chia-Ni

AU - Wu, Pei-Ei

AU - Ding, Shian-Ling

AU - Ashworth, Alan

AU - Jones, Michael

AU - Orr, Nick

AU - Swerdlow, Anthony J

AU - Tsimiklis, Helen

AU - Makalic, Enes

AU - Schmidt, Daniel F

AU - Bui, Quang M

AU - Chanock, Stephen J

AU - Hunter, David J

AU - Hein, Rebecca

AU - Dahmen, Norbert

AU - Beckmann, Lars

AU - Aaltonen, Kirsimari

AU - Muranen, Taru A

AU - Heikkinen, Tuomas

AU - Irwanto, Astrid

AU - Rahman, Nazneen

AU - Turnbull, Clare A

AU - Waisfisz, Quinten

AU - Meijers-Heijboer, Hanne E J

AU - Adank, Muriel A

AU - Van Der Luijt, Rob B

AU - Hall, Per

AU - Chenevix-Trench, Georgia

AU - Dunning, Alison

AU - Easton, Douglas F

AU - Cox, Angela

AU - GENICA Network

N1 - © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

PY - 2015/1/1

Y1 - 2015/1/1

N2 - Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 × 10(-6)), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis.

AB - Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 × 10(-6)), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis.

U2 - 10.1093/hmg/ddu431

DO - 10.1093/hmg/ddu431

M3 - SCORING: Journal article

C2 - 25168388

VL - 24

SP - 285

EP - 298

JO - HUM MOL GENET

JF - HUM MOL GENET

SN - 0964-6906

IS - 1

ER -