Table 1.

Risk-allele frequencies and relative risks for breast cancer susceptibility loci among women of European-American ancestry

LocusChromosomeGeneRisk allele frequency (%)Relative risk
1rs112494331pNOTCH2/FCGR1B391.14
2Multiple variants1pMUTYH0.51.4–2.2
3rs6164881pPEX14671.06
4rs115524491pTPN22/BCL2L15171.07
5rs42457391qMDM4261.14
6rs48498872pNone901.10
7Multiple variants2pMSH60.94.9–4.9
8Multiple variants2pMSH20.012.4–2.4
9rs127106962pNone361.11
10rs20163942qMETAP1D521.05
11rs15506232qCDCA7841.06
12rs10454852qCASP80.851.03
13rs133870422qIGFBP2, IGBP5, TPN2521.12
14rs168576092qDIRC3261.08
15rs49737683pSLC4A7/NEK10461.11
16rs124936073pTGFBR2351.06
17rs67626443pITPR1/EGOT401.07
18rs97905174qTET2231.05
19rs68285234qADAM29871.11
20rs109416795pMRPS30/HCN1261.19
21rs77349925pTERT431.05
22rs8893125qMAP3K1/MEIR3281.13
23rs104720765qRAB3C381.05
24rs13537475qPDE4D901.09
25rs14326795qEBF1431.07
26rs2042476pRANBP9431.05
27rs175300686qNone221.09
28rs20462106qESR1341.13
29rs37573186qESR171.21
30rs112426756qFOXQ1611.06
31rs7204757qARHGEF5/NOBOX751.06
32Multiple variants8qNBN0.91.3–3.1
33rs96934448pNone321.07
34rs64729038qNone821.10
35rs29435598qHNF4G71.13
36rs132816158qMYC401.08
37rs117801568qMIR1208161.07
38rs10119709pCDKN2A/B171.09
39rs8656869qKLF4/RAD23B611.12
40rs107592439qNone391.06
41rs238020510pANKRD16561.02
42rs707277610pMLLT10/DNAJC1291.07
43rs1181444810pDNAJC121.26
44rs1099519010qZNF365851.16
45rs70401010qZMIZ1391.07
46Multiple variants10qPTEN0.012.0–10.0
47rs790451910qTCF7L2461.06
48rs1119991410qNone681.05
49rs298157910qFGFR2381.26
50rs381719811pLSP1/H19301.07
51rs390307211qOVOL1531.05
52rs61436711qCCND1/FGFs151.15
53rs49440611qCCND1261.07
54Multiple variants11qATM0.32.0–3.0
55rs1182064611qNone591.09
56rs1077139912pPTHLH881.19
57rs1242255212pNone261.05
58rs1735690712qNTN4701.10
59rs129201112qTBX3/MAPKAP5581.10
60Multiple variants13qBRCA20.19.0–21.0
61rs223600714qPAX9/SLC25A21791.08
62rs99973714qRAD51B781.09
63rs258880914qRAD51L1161.08
64rs94176414qCCDC88C341.06
65rs380366216qTOX3/LOC643714251.20
66rs1781744916qMIR1972-2-FTO601.08
67rs1107599516qFTO241.10
68Multiple variants16qCDH10.012.0–10.0
69Multiple variants16pPALB20.012.0–4.0
70rs1332983516qCDYL2221.08
71Multiple variants17qBRCA10.065.0–45.0
72Multiple variants17qBRIP20.12.0–3.0
73Multiple variants17pTP530.012.0–10.0
74rs650495017qSTXBP4/COX11731.05
75Multiple variants17qRAD51C0.53.2–3.5
76rs52761618qNone621.05
77rs143690418qCHST9601.04
78Multiple variants19pSTK110.012.0–10.0
79rs817019pMERIT40191.25
80rs480880119pSSBP4/ISYNA1/ELL651.06
81rs376098219qKCNN4/ZNF283461.06
82rs228437820qRALY331.16
83rs282309321qNRIP1731.09
84Multiple variants22qCHEK20.42.0–3.0
85rs13239022qEMID1/RHBDD33.61.12
86rs600193022qMKL1111.12