Abstract:
:We conducted a three-stage genome-wide association study (GWAS) of breast cancer in 9,770 cases and 10,799 controls in the Cancer Genetic Markers of Susceptibility (CGEMS) initiative. In stage 1, we genotyped 528,173 SNPs in 1,145 cases of invasive breast cancer and 1,142 controls. In stage 2, we analyzed 24,909 top SNPs in 4,547 cases and 4,434 controls. In stage 3, we investigated 21 loci in 4,078 cases and 5,223 controls. Two new loci achieved genome-wide significance. A pericentromeric SNP on chromosome 1p11.2 (rs11249433; P = 6.74 x 10(-10) adjusted genotype test, 2 degrees of freedom) resides in a large linkage disequilibrium block neighboring NOTCH2 and FCGR1B; this signal was stronger for estrogen-receptor-positive tumors. A second SNP on chromosome 14q24.1 (rs999737; P = 1.74 x 10(-7)) localizes to RAD51L1, a gene in the homologous recombination DNA repair pathway. We also confirmed associations with loci on chromosomes 2q35, 5p12, 5q11.2, 8q24, 10q26 and 16q12.1.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Thomas G,Jacobs KB,Kraft P,Yeager M,Wacholder S,Cox DG,Hankinson SE,Hutchinson A,Wang Z,Yu K,Chatterjee N,Garcia-Closas M,Gonzalez-Bosquet J,Prokunina-Olsson L,Orr N,Willett WC,Colditz GA,Ziegler RG,Berg CD,Buys SSdoi
10.1038/ng.353subject
Has Abstractpub_date
2009-05-01 00:00:00pages
579-84issue
5eissn
1061-4036issn
1546-1718pii
ng.353journal_volume
41pub_type
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