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Genetics of Breast and Ovarian Cancer (PDQ®)

  • Updated: 10/02/2014

Table 12. High-probability Ovarian Cancer Susceptibility Loci Identified Through Genome-Wide Association Studies

Putative Gene(s) Chromosome SNP Study Citation Odds Ratio (95% Confidence Interval) Comment 
SNP = single nucleotide polymorphism.
HOXD1 2q31.1rs2072590[137]1.16 (1.12–1.21)Stronger in serous cancers
TIPARP 3q25.31rs2665390[137]1.19 (1.11–1.27)
Intergenic/MYC, THEM758q24.21rs10088218[137]0.84 (0.80–0.89)
BNC2 9p22.2rs3814113[138]0.82 (0.79–0.86)Stronger in serous cancers; also in BRCA1 and BRCA2 [139]
SKAP1 17q21.32rs9303542[137]1.11 (1.06–1.16)
BABAM1 19p13.11rs8170[140]1.18 (1.12–1.25)Serous cancers only
ANKLE1 19p13.11rs2363956[140]1.16 (1.11–1.21)


  1. Goode EL, Chenevix-Trench G, Song H, et al.: A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet 42 (10): 874-9, 2010.  [PUBMED Abstract]

  2. Song H, Ramus SJ, Tyrer J, et al.: A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet 41 (9): 996-1000, 2009.  [PUBMED Abstract]

  3. Ramus SJ, Kartsonaki C, Gayther SA, et al.: Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 103 (2): 105-16, 2011.  [PUBMED Abstract]

  4. Bolton KL, Tyrer J, Song H, et al.: Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet 42 (10): 880-4, 2010.  [PUBMED Abstract]