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Genome-wide association analysis identifies three new breast cancer susceptibility loci
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2012 (English)In: Nature Genetics, ISSN 1061-4036, Vol. 44, no 3, 312-318 p.Article in journal (Refereed) Published
Abstract [en]

Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ~8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ~70,000 cases and ~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 × 10−35), 12q24 (rs1292011; P = 4.3 × 10−19) and 21q21 (rs2823093; P = 1.1 × 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.

Place, publisher, year, edition, pages
2012. Vol. 44, no 3, 312-318 p.
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Medical and Health Sciences
URN: urn:nbn:se:uu:diva-171132DOI: 10.1038/ng.1049PubMedID: 22267197OAI: oai:DiVA.org:uu-171132DiVA: diva2:510248
Available from: 2012-03-15 Created: 2012-03-15 Last updated: 2013-04-09Bibliographically approved

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Blomqvist, Carl
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