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Chunk #15 — RESULTS — Identification of new susceptibility loci

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Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
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encodes a methylcytosine dioxygenase involved in myelopoiesis. Mutations in TET2 are frequent in hematological malignancies but have also been reported in 2 of 47 breast tumors in the Catalogue of Somatic Mutations in Cancer (COSMIC) database. In addition, Pharoah et al.18 have found an association between rs1243180 and ovarian cancer. This SNP is ~120 kb telomeric to rs7072776 and is partially correlated with it (r2 = 0.51); both SNPs and the neighboring breast cancer–associated locus rs11814448 lie within the region 400 kb upstream of DNAJC1.