OBJECTIVES: This study was conducted to evaluate the potential role of CASP8 genetic polymorphisms in the etiology of breast cancer in a case-control study, Korea. METHODS: Incident breast cancer cases confirmed histologically (n = 1,599) were recruited from two hospitals in Seoul during 2001-2005. Control subjects (n = 1,536) were selected from the Health Examinee Cohort from Seoul and Gyeonggi Province surrounding Seoul, Korea. Three SNPs (D302H D > H, 5'-UTR C > T, and K337K G > A) were genotyped by the primer extension assay. The CASP8 D302H, which was not polymorphic in 48 samples, was excluded in further genotyping. Odds ratios and 95% confidential intervals (95% CIs) were estimated by unconditional logistic regression model adjusted for age at enrollment, education, age at first full-term pregnancy, cigarette smoking, and family history of breast cancer. RESULTS: The 5'-UTR T allele containing genotypes (CT/TT) were associated with an increased risk of breast cancer, compared with those with the CC genotype (OR = 1.13, 95% CI = 0.95-1.34; and OR = 1.48, 95% CI = 1.04-2.10, respectively; P-trend = 0.02). When stratified by the estrogen and progesterone receptor status, the association between the 5'-UTR T allele and breast cancer risk was prominent in ER(+) and PR(+) cases among pre-menopausal women (OR = 1.31, 95% CI = 1.00-1.72 and OR = 1.40, 95% CI = 1.06-1.85, respectively), whereas the association was found prominent in ER(-) or PR(-) cases (OR = 1.32, 95% CI = 0.93-1.87 and OR = 1.42, 95% CI = 1.04-1.94, respectively) among post-menopausal women. CONCLUSION: Our results thus suggest that the CASP8 5'-UTR C > T are associated with breast cancer risks and the effect may be modified by estrogen and progesterone receptor status.
OBJECTIVES: This study was conducted to evaluate the potential role of CASP8 genetic polymorphisms in the etiology of breast cancer in a case-control study, Korea. METHODS: Incident breast cancer cases confirmed histologically (n = 1,599) were recruited from two hospitals in Seoul during 2001-2005. Control subjects (n = 1,536) were selected from the Health Examinee Cohort from Seoul and Gyeonggi Province surrounding Seoul, Korea. Three SNPs (D302H D > H, 5'-UTR C > T, and K337K G > A) were genotyped by the primer extension assay. The CASP8D302H, which was not polymorphic in 48 samples, was excluded in further genotyping. Odds ratios and 95% confidential intervals (95% CIs) were estimated by unconditional logistic regression model adjusted for age at enrollment, education, age at first full-term pregnancy, cigarette smoking, and family history of breast cancer. RESULTS: The 5'-UTR T allele containing genotypes (CT/TT) were associated with an increased risk of breast cancer, compared with those with the CC genotype (OR = 1.13, 95% CI = 0.95-1.34; and OR = 1.48, 95% CI = 1.04-2.10, respectively; P-trend = 0.02). When stratified by the estrogen and progesterone receptor status, the association between the 5'-UTR T allele and breast cancer risk was prominent in ER(+) and PR(+) cases among pre-menopausal women (OR = 1.31, 95% CI = 1.00-1.72 and OR = 1.40, 95% CI = 1.06-1.85, respectively), whereas the association was found prominent in ER(-) or PR(-) cases (OR = 1.32, 95% CI = 0.93-1.87 and OR = 1.42, 95% CI = 1.04-1.94, respectively) among post-menopausal women. CONCLUSION: Our results thus suggest that the CASP8 5'-UTR C > T are associated with breast cancer risks and the effect may be modified by estrogen and progesterone receptor status.
Authors: Roger L Milne; Justo Lorenzo-Bermejo; Barbara Burwinkel; Núria Malats; Jose Ignacio Arias; M Pilar Zamora; Javier Benítez; Manjeet K Humphreys; Montserrat García-Closas; Stephen J Chanock; Jolanta Lissowska; Mark E Sherman; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Heli Nevanlinna; Tuomas Heikkinen; Kristiina Aittomäki; Carl Blomqvist; Hoda Anton-Culver; Argyrios Ziogas; Peter Devilee; Christie J van Asperen; Rob A E M Tollenaar; Caroline Seynaeve; Per Hall; Kamila Czene; Jianjun Liu; Astrid K Irwanto; Daehee Kang; Keun-Young Yoo; Dong-Young Noh; Fergus J Couch; Janet E Olson; Xianshu Wang; Zachary Fredericksen; Børge G Nordestgaard; Stig E Bojesen; Henrik Flyger; Sara Margolin; Annika Lindblom; Peter A Fasching; Ruediger Schulz-Wendtland; Arif B Ekici; Matthias W Beckmann; Shan Wang-Gohrke; Chen-Yang Shen; Jyh-Cherng Yu; Huan-Ming Hsu; Pei-Ei Wu; Graham G Giles; Gianluca Severi; Laura Baglietto; Dallas R English; Angela Cox; Ian Brock; Graeme Elliott; Malcolm W R Reed; Jonathan Beesley; Xiaoqing Chen; Kconfab Investigators; Olivia Fletcher; Lorna Gibson; Isabel dos Santos Silva; Julian Peto; Bernd Frank; Joerg Heil; Alfons Meindl; Jenny Chang-Claude; Rebecca Hein; Alina Vrieling; Dieter Flesch-Janys; Melissa C Southey; Letitia Smith; Carmel Apicella; John L Hopper; Alison M Dunning; Karen A Pooley; Paul D P Pharoah; Ute Hamann; Beate Pesch; Yon-Dschun Ko; Douglas F Easton; Georgia Chenevix-Trench Journal: J Med Genet Date: 2011-10 Impact factor: 6.318
Authors: Diether Lambrechts; Therese Truong; Christina Justenhoven; Manjeet K Humphreys; Jean Wang; John L Hopper; Gillian S Dite; Carmel Apicella; Melissa C Southey; Marjanka K Schmidt; Annegien Broeks; Sten Cornelissen; Richard van Hien; Elinor Sawyer; Ian Tomlinson; Michael Kerin; Nicola Miller; Roger L Milne; M Pilar Zamora; José Ignacio Arias Pérez; Javier Benítez; Ute Hamann; Yon-Dschun Ko; Thomas Brüning; Jenny Chang-Claude; Ursel Eilber; Rebecca Hein; Stefan Nickels; Dieter Flesch-Janys; Shan Wang-Gohrke; Esther M John; Alexander Miron; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Mervi Grip; Georgia Chenevix-Trench; Jonathan Beesley; Xiaoqing Chen; Florence Menegaux; Emilie Cordina-Duverger; Chen-Yang Shen; Jyh-Cherng Yu; Pei-Ei Wu; Ming-Feng Hou; Irene L Andrulis; Teresa Selander; Gord Glendon; Anna Marie Mulligan; Hoda Anton-Culver; Argyrios Ziogas; Kenneth R Muir; Artitaya Lophatananon; Suthee Rattanamongkongul; Puttisak Puttawibul; Michael Jones; Nicholas Orr; Alan Ashworth; Anthony Swerdlow; Gianluca Severi; Laura Baglietto; Graham Giles; Melissa Southey; Federik Marmé; Andreas Schneeweiss; Christof Sohn; Barbara Burwinkel; Betul T Yesilyurt; Patrick Neven; Robert Paridaens; Hans Wildiers; Hermann Brenner; Heiko Müller; Volker Arndt; Christa Stegmaier; Alfons Meindl; Sarah Schott; Claus R Bartram; Rita K Schmutzler; Angela Cox; Ian W Brock; Graeme Elliott; Simon S Cross; Peter A Fasching; Ruediger Schulz-Wendtland; Arif B Ekici; Matthias W Beckmann; Olivia Fletcher; Nichola Johnson; Isabel Dos Santos Silva; Julian Peto; Heli Nevanlinna; Taru A Muranen; Kristiina Aittomäki; Carl Blomqvist; Thilo Dörk; Peter Schürmann; Michael Bremer; Peter Hillemanns; Natalia V Bogdanova; Natalia N Antonenkova; Yuri I Rogov; Johann H Karstens; Elza Khusnutdinova; Marina Bermisheva; Darya Prokofieva; Shamil Gancev; Anna Jakubowska; Jan Lubinski; Katarzyna Jaworska; Katarzyna Durda; Børge G Nordestgaard; Stig E Bojesen; Charlotte Lanng; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Jaana M Hartikainen; Paolo Radice; Paolo Peterlongo; Siranoush Manoukian; Loris Bernard; Fergus J Couch; Janet E Olson; Xianshu Wang; Zachary Fredericksen; Grethe Grenaker Alnaes; Vessela Kristensen; Anne-Lise Børresen-Dale; Peter Devilee; Robert A E M Tollenaar; Caroline M Seynaeve; Maartje J Hooning; Montserrat García-Closas; Stephen J Chanock; Jolanta Lissowska; Mark E Sherman; Per Hall; Jianjun Liu; Kamila Czene; Daehee Kang; Keun-Young Yoo; Dong-Young Noh; Annika Lindblom; Sara Margolin; Alison M Dunning; Paul D P Pharoah; Douglas F Easton; Pascal Guénel; Hiltrud Brauch Journal: Hum Mutat Date: 2012-04-30 Impact factor: 4.878