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Low- and Moderate-Penetrance Genes Associated With Breast and / or Ovarian Cancer

Table 8. High-probability Breast Cancer Susceptibility Loci Identified Through Genome-Wide Association Studies

Putative Gene(s)ChromosomeSNPStudy CitationaOdds Ratio (OR) (95% Confidence Interval [CI])bComments
ER- = estrogen receptor–negative; ER+ = estrogen receptor–positive; PR- = progesterone receptor–negative; PR+ = progesterone receptor–positive; SNP = single nucleotide polymorphism; triple-negative = ER-/PR-/HER2/neu-.
a Initial study that demonstrated genome-wide significance for each locus.
b All associations observed in the general population, unless otherwise indicated; when relevant, if association was also observed inBRCA1orBRCA2mutation carriers, it is indicated.
c OR for best tagSNP was used[109]as a surrogate for published SNP.
Intergenic /NOTCH21p11.2rs11249433[89]1.08 (1.02–1.15)[109]Stronger in ER+, low-grade[109]; also inBRCA2[119]
ERBB22q34rs13393577[120]1.53 (1.37–1.70)[120]Identified in Korean subjects[120]
Intergenic2q35rs13387042[107]1.21 (1.14–1.29)[109]Stronger in bilateral and lobular[116]; also inBRCA1andBRCA2[121]
SLC4A7, NEK103p24rs4973768[115]1.16 (1.10–1.24)[109]Also inBRCA2[121]
MRPS305p12rs10941679[114]1.11c(1.04–1.19)[109]Strongest in PR+, low-grade[122]; also inBRCA2[121]
TERT-/CLPTM15p15rs10069690[117]1.25 (1.16–1.34)[117]Strongest in triple-negative[117]
MAP3K1 5q11.2rs889312[106]1.22 (1.14–1.30)[109]Stronger in ER+[109]; also inBRCA2[121]
RNF1466q22rs2180341[110]1.24 (1.13–1.36)[123]Stronger in Ashkenazi Jews[123]
ESR16q25.1rs2046210[111]1.15c(1.08–1.22)[109]Also inBRCA1[119]
TAB26q25.1rs9485372[124]0.90 (0.87–0.92)[124]Identified in Chinese subjects[124]
Intergenic7q32.3rs2048672[125]1.11 (1.05–1.17)[125]Identified in East Asian subjects[125]
Intergenic/MYC8q24.21rs13281615[106]1.14 (1.07–1.21)[109]Stronger in ER+[109]
CDKN2A, CDKN2B9p21rs1011970[109]1.09 (1.04–1.14)[109]Stronger in ER+[109]; also inBRCA2[126]
Intergenic9q31.2rs865686[127]0.89(0.85–0.92)[127]Also inBRCA2[126]
ANKRD16, FBXO1810p15.1rs2380205[109]0.94 (0.91–0.98)[109] 
ZNF365 10q21.2rs10995190[109]0.86 (0.82–0.91)[109]Stronger in ER+ in general population[109]; also inBRCA2[128]
ZMIZ110q22.3rs704010[109]1.07 (1.03–1.11)[109] 
FGFR2 10q26.13rs2981582[106]1.43 (1.35–1.53)[109]Strongest for ER+, low-grade[116]; also inBRCA2[121]
LSP111p15.5rs3817198[106]1.12 (1.05–1.19)[109]Also inBRCA2[121]
Intergenic11q13rs614367[109]1.15 (1.10–1.20)[109]Restricted to ER+ tumors; strongest for ER+/PR+[109]
BARX211q24.3rs7107217[124]1.08 (1.05–1.11)[124]Identified in Chinese subjects[124]
PTHLH12p11rs10771399[129]0.85 (0.83–0.88)[129]Also inBRCA1[126]
Intergenic12q24rs1292011[129]0.92 (0.91–0.94)[129]Restricted to ER+[129]; also inBRCA2[126]
RAD51B14q24.1rs999737[89]0.89 (0.83–0.95)[109]Associated with all subtypes, including triple-negative[90]; also inBRCA2[126]
TOX316q12.1rs3803662[106]1.30 (1.22–1.39)[109]Stronger in ER+[116]; also inBRCA1andBRCA2[121]
COX1117q23.2rs6504950[115]0.92c(0.86–0.99)[109] 
BABAM119p13.1rs8170[118]1.26 (1.17–1.35)[130]Restricted to triple-negative in general population[118]; also inBRCA1[130]
NRIP121q21rs2823093[129]0.94 (0.92–0.96)[129]Restricted to ER+[129]

Table 9. High-probability Ovarian Cancer Susceptibility Loci Identified Through Genome-Wide Association Studies

Putative Gene(s)ChromosomeSNPStudy CitationOdds Ratio (95% Confidence Interval)Comment
SNP = single nucleotide polymorphism.
HOXD12q31.1rs2072590[131]1.16 (1.12–1.21)Stronger in serous cancers
TIPARP3q25.31rs2665390[131]1.19 (1.11–1.27) 
Intergenic/MYC,THEM758q24.21rs10088218[131]0.84 (0.80–0.89) 
BNC29p22.2rs3814113[132]0.82 (0.79–0.86)Stronger in serous cancers; also inBRCA1andBRCA2[133]
SKAP117q21.32rs9303542[131]1.11 (1.06–1.16) 
BABAM119p13.11rs8170[134]1.18 (1.12–1.25)Serous cancers only
ANKLE119p13.11rs2363956[134]1.16 (1.11–1.21) 
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