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Genetics of Breast and Ovarian Cancer (PDQ®)

  • Updated: 07/11/2014

Table 7. Genetic Modifiers of Ovarian Cancer Risk

Putative Gene Chromosome SNP Citation OR (95% CI) Comments 
CI = confidence interval; OR = odds ratio, SNP = single nucleotide polymorphism.
HOXD3 2q31rs717852[199]1.25 (1.10-1.42)BRCA2 carriers
CASP8 2q33D302H variant[189]0.69 (0.53–0.89)BRCA1 carriers
IRS1 2q36.3rs1801278[200]1.43 (1.06–1.92)BRCA1 carriers
2q36.3rs1801278[200]2.21 (1.39–3.52)BRCA2 carriers
2q36.3rs13306465[200]2.42 (1.06–5.56)BRCA1 carriers, type II mutations only
TIPARP 3q25.31rs2665390[199]1.48 (1.21–1.83)BRCA2 carriers
3q25.31rs2665390[199]1.25 (1.10–1.43)BRCA1 carriers
4q32.3rs4691139[187]1.20 (1.17–1.38)BRCA1 carriers
8q24rs10088218[199]0.81 (0.67–0.98)BRCA2 carriers
8q24rs10088218[199]0.89 (0.81–0.99)BRCA1 carriers
BCN2/CNTLN 9p22.2rs3814113[131]0.78 (0.72–0.85)BRCA1 carriers
9p22.2rs3814113[131]0.78 (0.67–0.90)BRCA2 carriers
10p13.1rs8170[193]1.15 (1.03–1.30)BRCA1 carriers
10p13.1rs8170[193]1.34 (1.12–1.62)BRCA2 carriers
10p13.1rs8170[193]0.78 (0.67–0.90)BRCA2 carriers
PLEKHM1 17q21.31rs17631303[187]1.27 (1.17–1.38)BRCA1 carriers
17q21.31rs17631303[187]1.32 (1.15–1.52)BRCA2 carriers
SKAP1 17q21.32rs9303542[199]1.16 (1.02–1.33)BRCA2 carriers
CERS6 19p13.1rs6739200[193]1.16 (1.05–1.29)BRCA1carriers
19p13.1rs6739200[193]1.30 (1.10–1.52)BRCA2 carriers


  1. 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]

  2. Couch FJ, Wang X, McGuffog L, et al.: Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet 9 (3): e1003212, 2013.  [PUBMED Abstract]

  3. Engel C, Versmold B, Wappenschmidt B, et al.: Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 19 (11): 2859-68, 2010.  [PUBMED Abstract]

  4. Couch FJ, Gaudet MM, Antoniou AC, et al.: Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 21 (4): 645-57, 2012.  [PUBMED Abstract]

  5. Ramus SJ, Antoniou AC, Kuchenbaecker KB, et al.: Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat 33 (4): 690-702, 2012.  [PUBMED Abstract]

  6. Ding YC, McGuffog L, Healey S, et al.: A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 21 (8): 1362-70, 2012.  [PUBMED Abstract]