7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium.

Journal of medical genetics ·第 48 卷 ·第 10 期 ·2012-03-15

Milne Roger L, Lorenzo-Bermejo Justo, Burwinkel Barbara, Malats Núria, Arias Jose Ignacio, Zamora M Pilar, Benítez Javier, Humphreys Manjeet K, García-Closas Montserrat, Chanock Stephen J, Lissowska Jolanta, Sherman Mark E, Mannermaa Arto, Kataja Vesa, Kosma Veli-Matti, Nevanlinna Heli, Heikkinen Tuomas, Aittomäki Kristiina, Blomqvist Carl, Anton-Culver Hoda, Ziogas Argyrios, Devilee Peter, van Asperen Christie J, Tollenaar Rob A E M, Seynaeve Caroline, Hall Per, Czene Kamila, Liu Jianjun, Irwanto Astrid K, Kang Daehee, Yoo Keun-Young, Noh Dong-Young, Couch Fergus J, Olson Janet E, Wang Xianshu, Fredericksen Zachary, Nordestgaard Børge G, Bojesen Stig E, Flyger Henrik, Margolin Sara, Lindblom Annika, Fasching Peter A, Schulz-Wendtland Ruediger, Ekici Arif B, Beckmann Matthias W, Wang-Gohrke Shan, Shen Chen-Yang, Yu Jyh-Cherng, Hsu Huan-Ming, Wu Pei-Ei, Giles Graham G, Severi Gianluca, Baglietto Laura, English Dallas R, Cox Angela, Brock Ian, Elliott Graeme, Reed Malcolm W R, Beesley Jonathan, Chen Xiaoqing, Investigators Kconfab, , Fletcher Olivia, Gibson Lorna, dos Santos Silva Isabel, Peto Julian, Frank Bernd, Heil Joerg, Meindl Alfons, Chang-Claude Jenny, Hein Rebecca, Vrieling Alina, Flesch-Janys Dieter, Southey Melissa C, Smith Letitia, Apicella Carmel, Hopper John L, Dunning Alison M, Pooley Karen A, Pharoah Paul D P, Hamann Ute, Pesch Beate, Ko Yon-Dschun, , Easton Douglas F, Chenevix-Trench Georgia

摘要

Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies.,The authors genotyped 14,843 invasive case patients and 19,852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression.,For white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p = 0.04). Results were inconclusive for Asian women. From a combined analysis of 24 154 case patients and 33,376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p = 0.001). The OR was greater at younger ages (p trend = 0.01).,This may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.

文献信息

期刊

Journal of medical genetics

期刊简称

J Med Genet

ISSN

0022-2593

发表日期

2012-03-15

收录日期

2011-09-20

更新日期

2016-11-22

语言

英语

国家/地区

England

NLM ID

2985087R

外部链接

PubMed 原文查看期刊详情

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7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium.

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