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Genetics of Breast and Ovarian Cancer (PDQ®)
Health Professional VersionLast Modified: 10/02/2009
Table 6. High-probability breast cancer susceptibility loci for sporadic breast cancer identified through genome-wide association studies

Putative Gene(s)  Chromosome   SNP(s)  Study Citations* 
* Initial study that provided convincing evidence for each locus.
FGFR2 10q26.13 rs2981582 [64]
TOX3 16q12.1 rs3803662 [64]
MAP3K1 5q11.2 rs889312 [64]
Intergenic 8q24.21 rs13281615 [64]
LSP1 11p15.5 rs3817198 [64]
Intergenic 2q35 rs13387042 [65]
ESR1 6q25.1 rs2046210 [68]
MRPS30 5p12 rs10941679 [71]
Intergenic 1p11.2 rs11249433 [73]
RAD51B 14q24.1 rs999737 [73]
SLC4A7,NEK10 3p24 rs4973786 [72]
COX11 17q23.2 rs6504950 [72]

References

  1. Easton DF, Pooley KA, Dunning AM, et al.: Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447 (7148): 1087-93, 2007.  [PUBMED Abstract]

  2. Stacey SN, Manolescu A, Sulem P, et al.: Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 39 (7): 865-9, 2007.  [PUBMED Abstract]

  3. Zheng W, Long J, Gao YT, et al.: Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 41 (3): 324-8, 2009.  [PUBMED Abstract]

  4. Stacey SN, Manolescu A, Sulem P, et al.: Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 40 (6): 703-6, 2008.  [PUBMED Abstract]

  5. Ahmed S, Thomas G, Ghoussaini M, et al.: Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 41 (5): 585-90, 2009.  [PUBMED Abstract]

  6. Thomas G, Jacobs KB, Kraft P, et al.: A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet 41 (5): 579-84, 2009.  [PUBMED Abstract]


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