Journal
NATURE GENETICS
Volume 44, Issue 3, Pages 312-U120Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.1049
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Funding
- MRC [G0700491] Funding Source: UKRI
- Cancer Research UK [11022, 10118, 15106] Funding Source: researchfish
- Cancer Research UK
- The Francis Crick Institute [10124] Funding Source: researchfish
- Medical Research Council [G0700491] Funding Source: researchfish
- National Institute for Health Research [03/DHCS/03/G121/51] Funding Source: researchfish
- Cancer Research UK [10118, 10124, 11022, A10710] Funding Source: Medline
- Medical Research Council [G0700491] Funding Source: Medline
- NCI NIH HHS [R25 CA092049] Funding Source: Medline
- Wellcome Trust [090532] Funding Source: Medline
- Breast Cancer Now [BREAST CANCER NOW RESEARCH CENTRE] Funding Source: Medline
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Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for similar to 8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in similar to 70,000 cases and similar to 68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 x 10(-35)), 12q24 (rs1292011; P = 4.3 x 10(-19)) and 21q21 (rs2823093; P = 1.1 x 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.
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