Skip to main content
  • AACR Publications
    • Blood Cancer Discovery
    • Cancer Discovery
    • Cancer Epidemiology, Biomarkers & Prevention
    • Cancer Immunology Research
    • Cancer Prevention Research
    • Cancer Research
    • Clinical Cancer Research
    • Molecular Cancer Research
    • Molecular Cancer Therapeutics

AACR logo

  • Register
  • Log in
  • My Cart
Advertisement

Main menu

  • Home
  • About
    • The Journal
    • AACR Journals
    • Subscriptions
    • Permissions and Reprints
    • Reviewing
  • Articles
    • OnlineFirst
    • Current Issue
    • Past Issues
    • CEBP Focus Archive
    • Meeting Abstracts
    • Progress and Priorities
    • Collections
      • COVID-19 & Cancer Resource Center
      • Disparities Collection
      • Editors' Picks
      • "Best of" Collection
  • For Authors
    • Information for Authors
    • Author Services
    • Best of: Author Profiles
    • Informing Public Health Policy
    • Submit
  • Alerts
    • Table of Contents
    • Editors' Picks
    • OnlineFirst
    • Citation
    • Author/Keyword
    • RSS Feeds
    • My Alert Summary & Preferences
  • News
    • Cancer Discovery News
  • COVID-19
  • Webinars
  • Search More

    Advanced Search

  • AACR Publications
    • Blood Cancer Discovery
    • Cancer Discovery
    • Cancer Epidemiology, Biomarkers & Prevention
    • Cancer Immunology Research
    • Cancer Prevention Research
    • Cancer Research
    • Clinical Cancer Research
    • Molecular Cancer Research
    • Molecular Cancer Therapeutics

User menu

  • Register
  • Log in
  • My Cart

Search

  • Advanced search
Cancer Epidemiology, Biomarkers & Prevention
Cancer Epidemiology, Biomarkers & Prevention
  • Home
  • About
    • The Journal
    • AACR Journals
    • Subscriptions
    • Permissions and Reprints
    • Reviewing
  • Articles
    • OnlineFirst
    • Current Issue
    • Past Issues
    • CEBP Focus Archive
    • Meeting Abstracts
    • Progress and Priorities
    • Collections
      • COVID-19 & Cancer Resource Center
      • Disparities Collection
      • Editors' Picks
      • "Best of" Collection
  • For Authors
    • Information for Authors
    • Author Services
    • Best of: Author Profiles
    • Informing Public Health Policy
    • Submit
  • Alerts
    • Table of Contents
    • Editors' Picks
    • OnlineFirst
    • Citation
    • Author/Keyword
    • RSS Feeds
    • My Alert Summary & Preferences
  • News
    • Cancer Discovery News
  • COVID-19
  • Webinars
  • Search More

    Advanced Search

CEBP Focus

Common Genetic Variation and Breast Cancer Risk—Past, Present, and Future

Jenna Lilyquist, Kathryn J. Ruddy, Celine M. Vachon and Fergus J. Couch
Jenna Lilyquist
1Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.
2Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Kathryn J. Ruddy
3Department of Oncology, Mayo Clinic, Rochester, Minnesota.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Celine M. Vachon
1Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Fergus J. Couch
1Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.
2Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: couch.fergus@mayo.edu
DOI: 10.1158/1055-9965.EPI-17-1144 Published April 2018
  • Article
  • Figures & Data
  • Info & Metrics
  • PDF
Loading

Article Figures & Data

Figures

  • Tables
  • Additional Files
  • Figure 1.
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure 1.

    Allelic architecture of SNPs associated with ER-positive breast cancer. OR and effect allele frequency (EAF) for all SNPs associated with ER-positive breast cancer in the OncoArray meta-analysis (P < 5 × 10−8; ref. 24).

  • Figure 2.
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure 2.

    Allelic architecture of SNPs associated with ER-negative breast cancer. OR and effect allele frequency (EAF) for all SNPs associated with ER-negative breast cancer in the OncoArray meta-analysis (P < 5 × 10−8; refs. 24, 25).

Tables

  • Figures
  • Additional Files
  • Table 1.

    Risk associated with overall breast cancer for 172 SNPs

    Overall breast cancer risk (24)
    LocusLocus discovery referenceaGenesrs IDAllelesMAFbRefined SNP referencecSubtypedORe (95% CI)fPgCombined Ph
    2q33.1(99)CASP8/ALS2CR12rs1830298T/C0.28(100)Overall1.06 (1.04–1.08)1.7 × 10−081.9 × 10−16
    5q11.2(12)MAP3K1rs62355902A/T0.16(12)Overall1.18 (1.15–1.21)8.5 × 10−426.8 × 10−98
    8q24.21(12)—rs13281615A/G0.41(12)Overall1.11 (1.09–1.13)5 × 10−281.9 × 10−57
    11p15.5(12)LSP1rs3817198T/C0.32(12)Overall1.05 (1.03–1.07)6.2 × 10−079.9 × 10−19
    16q12.1(12)TOX3rs4784227C/T0.24(101)Overall1.23 (1.2–1.25)7 × 10−886.8 × 10−201
    10q26.13(12)FGFR2rs2981578T/C0.47(102)Overall1.23 (1.21–1.25)1 × 10−1141.3 × 10−245
    10q26.13(12)FGFR2rs35054928G/GC0.4(102)Overall1.27 (1.25–1.3)3.5 × 10−1542.3 × 10−322
    10q26.13(12)FGFR2rs45631563A/T0.05(102)Overall0.81 (0.78–0.85)9.1 × 10−217.3 × 10−37
    2q35(46)IGFBP5rs4442975G/T0.5(103)ER+0.89 (0.87–0.9)3.6 × 10−401.1 × 10−95
    2q35(46)IGFBP5rs34005590C/A0.05(104)Overall0.82 (0.79–0.86)1.6 × 10−193.2 × 10−41
    5p12(13)FGF10/MRPS30rs10941679A/G0.25(13)ER+1.15 (1.13–1.18)6.2 × 10−435.6 × 10−73
    3p24.1(16)SLC4A7rs4973768C/T0.47(16)Overall1.11 (1.09–1.13)1.7 × 10−284.8 × 10−57
    17q22(16)—rs2787486A/C0.3(105)Overall0.93 (0.91–0.94)1.2 × 10−145.6 × 10−29
    22q12.1(106)CHEK2rs17879961A/G0.01(22)Overall1.26 (1.11–1.42)2.4 × 10−049.7 × 10−09
    1p11.2(107)EMBP1rs11249433A/G0.41(107)Overall1.11 (1.09–1.13)2.2 × 10−311.8 × 10−52
    14q24.1(107)RAD51Brs999737C/T0.23(107)Overall0.91 (0.89–0.93)1.1 × 10−186.5 × 10−39
    19p13.11(40)—rs67397200C/G0.3(108)BRCA11.03 (1.01–1.05)4.2 × 10−031.6 × 10−08
    9p21.3(20)CDKN2A/CDKN2Brs1011970G/T0.16(20)Overall1.07 (1.04–1.09)1.4 × 10−071 × 10−15
    10p15.1(20)ANKRD16rs2380205C/T0.44(20)Overall0.98 (0.96–0.99)1.1 × 10−021.7 × 10−04
    10q22.3(20)ZMZ1rs704010C/T0.38(20)Overall1.07 (1.05–1.09)1.1 × 10−141.7 × 10−35
    11q13.3(20)CCND1rs554219C/G0.13(97)ER+1.21 (1.18–1.24)5.8 × 10−475.8 × 10−47
    11q13.3(20)CCND1rs75915166C/A0.06(97)ER+1.28 (1.24–1.33)4.1 × 10−424.1 × 10−95
    6q25(20)ESR1rs3757322T/G0.32(93)ER-1.08 (1.06–1.1)1.1 × 10−163.3 × 10−41
    6q25(20)ESR1rs9397437G/A0.07(93)ER-1.17 (1.14–1.21)6.3 × 10−214.8 × 10−54
    6q25(20)ESR1rs2747652C/T0.48(93)ER-0.94 (0.92–0.960)1.2 × 10−111.3 × 10−26
    10q21.2(109)ZNF365rs10995201A/G0.16(110)Overall0.9 (0.88–0.92)4.7 × 10−171.6 × 10−51
    9q31.2(21)—rs10816625A/G0.06(111)Overall1.11 (1.07–1.15)2.3 × 10−085 × 10−18
    9q31.2(21)—rs13294895C/T0.18(111)Overall1.06 (1.03–1.08)1.9 × 10−066.5 × 10−17
    9q31.2(21)—rs676256T/C0.38(111)Overall0.91 (0.9–0.93)1.9 × 10−213.5 × 10−53
    5p15.33(47)TERTrs10069690C/T0.26(47)ER-1.06 (1.04–1.08)2.5 × 10−087.8 × 10−17
    12q24.21(19)TBX3rs1292011A/G0.42(19)Overall0.92 (0.9–0.94)2.4 × 10−194.4 × 10−39
    21q21.1(19)NRIP1rs2823093G/A0.27(19)Overall0.94 (0.92–0.96)1.1 × 10−091.5 × 10−20
    6q25.1(112)TAB2rs9485372G/A0.19(112)Overall0.96 (0.93–0.98)7.7 × 10−053.5 × 10−06
    6q14.1(113)—rs17529111T/C0.22(113)ER-1.02 (1–1.04)4.2 × 10−021.3 × 10−09
    20q11.22(113)RALYrs2284378C/T0.32(113)Overall1 (0.98–1.02)7.9 × 10−013.2 × 10−02
    5p15.33(92)TERTrs3215401A/AG0.31(92)Overall0.93 (0.91–0.95)7.1 × 10−131.1 × 10−20
    1q32.1(48)LGR6rs6678914G/A0.41(48)Overall1 (0.99–1.02)7.3 × 10−013 × 10−01
    1q32.1(48)MDM4rs4245739A/C0.26(48)Overall1.02 (1–1.04)2.5 × 10−021.3 × 10−04
    2p24.1(48)—rs12710696C/T0.37(48)Overall1.03 (1.01–1.04)6.6 × 10−031.3 × 10−08
    16q12.2(48)FTOrs11075995T/A0.24(48)Overall1.03 (1.01–1.06)1.3 × 10−038.7 × 10−09
    6p24.3(114)TFAP2Ars9348512C/A0.33(114)BRCA21 (0.99–1.02)6.4 × 10−018 × 10−01
    22q13.1(60)APOBEC3A/APOBEC3Bchr22:39359355I/D70.1(60)Overall1.1 (1.07–1.14)6.1 × 10−094.9 × 10−12
    1p36.22(22)PEX14rs616488A/G0.33(22)Overall0.94 (0.93–0.96)1.8 × 10−095 × 10−20
    1p13.2(22)DCLRE1Brs11552449C/T0.17(22)Overall1.04 (1.01–1.06)2.3 × 10−034.6 × 10−11
    2q14.1(22)—rs4849887C/T0.1(22)Overall0.91 (0.88–0.94)1.2 × 10−106.9 × 10−20
    2q31.1(22)DLX2-AS1rs2016394G/A0.47(22)Overall0.95 (0.94–0.97)3.1 × 10−076.2 × 10−12
    2q31.1(22)CDCA7rs1550623A/G0.15(22)Overall0.95 (0.93–0.98)8.8 × 10−055.4 × 10−10
    2q35(22)DIRC3rs16857609C/T0.26(22)Overall1.06 (1.04–1.09)1.4 × 10−091.8 × 10−25
    3p26.1(22)EGPT/ITPR1rs6762644A/G0.38(22)Overall1.05 (1.03–1.07)1.6 × 10−084 × 10−18
    3p24.1(22)TGFBR2rs12493607G/C0.34(22)Overall1.05 (1.03–1.07)4.9 × 10−076.9 × 10−14
    4q24(22)TET2rs9790517C/T0.23(22)Overall1.04 (1.01–1.06)1.1 × 10−035 × 10−11
    4q34.1(22)ADAM29rs6828523C/A0.12(22)Overall0.91 (0.88–0.93)1.2 × 10−111.8 × 10−25
    5q11.2(22)RAB3Crs10472076T/C0.38(22)Overall1.03 (1.01–1.04)6.6 × 10−039.6 × 10−09
    5q11.2(22)PDE4Drs1353747T/G0.09(22)Overall0.96 (0.93–0.99)7.6 × 10−034.1 × 10−09
    5q33.3(22)EBF1rs1432679T/C0.43(22)Overall1.08 (1.06–1.1)2.9 × 10−176.6 × 10−31
    6p25.3(22)FOXQ1rs11242675T/C0.37(22)Overall1 (0.98–1.02)9.7 × 10−011 × 10−04
    6p23(22)RANBP9rs204247A/G0.44(22)Overall1.04 (1.02–1.06)6.4 × 10−057.9 × 10−13
    7q35(22)NOBOX/ARHGEF6rs720475G/A0.25(22)Overall0.96 (0.94–0.98)3 × 10−041.2 × 10−11
    8p12(22)—rs9693444C/A0.32(22)Overall1.06 (1.04–1.08)1.7 × 10−101.6 × 10−21
    8q21.11(22)—rs6472903T/G0.17(22)Overall0.94 (0.92–0.96)4.4 × 10−214.4 × 10−21
    8q21.11(22)HNF4Grs2943559A/G0.08(22)Overall1.1 (1.07–1.14)4.2 × 10−094 × 10−24
    8q24.21(22)MYCrs11780156C/T0.17(22)Overall1.05 (1.03–1.08)2.5 × 10−051.1 × 10−13
    9q31.2(22)—rs10759243C/A0.29(22)Overall1.06 (1.04–1.08)4.2 × 10−102.2 × 10−18
    10p12.31(22)DNAJC1rs7072776G/A0.29(22)Overall1.05 (1.03–1.07)2.7 × 10−071.8 × 10−19
    10p12.31(22)DNAJC1rs11814448A/C0.02(22)Overall1.12 (1.06–1.19)1.4 × 10−066.1 × 10−18
    10q25.2(22)TCFL2rs7904519A/G0.46(22)Overall1.03 (1.01–1.05)8.6 × 10−041.5 × 10−13
    10q26.12(22)—rs11199914C/T0.32(22)Overall0.96 (0.94–0.98)2.1 × 10−056.5 × 10−12
    11q13.1(22)—rs3903072G/T0.47(22)Overall0.97 (0.95–0.97)9.1 × 10−042.3 × 10−12
    11q24.3(22)—rs11820646C/T0.4(22)Overall0.96 (0.94–0.98)2.5 × 10−052.1 × 10−14
    12p13.1(22)—rs12422552G/C0.26(22)Overall1.06 (1.04–1.08)3.2 × 10−083.6 × 10−15
    12q22(22)NTN4rs17356907A/G0.3(22)Overall0.91 (0.9–0.93)6.6 × 10−201 × 10−39
    13q13.1(22)BRCA2rs11571833A/T0.01(22)Overall1.35 (1.23–1.48)4 × 10−103.1 × 10−15
    14q13.3(22)PAX9rs2236007G/A0.21(22)Overall0.93 (0.91–0.95)5.8 × 10−104.2 × 10−21
    14q24.1(22)RAD51Brs2588809C/T0.17(22)Overall1.06 (1.03–1.08)2.6 × 10−066.3 × 10−14
    14q32.11(22)CCDC88Crs941764A/G0.35(22)Overall1.03 (1.02–1.05)3.6 × 10−048.2 × 10−13
    16q12.2(22)FTOrs17817449T/G0.41(22)Overall0.95 (0.93–0.96)4.9 × 10−092.5 × 10−21
    16q23.2(22)CDYL2rs13329835A/G0.23(22)Overall1.07 (1.05–1.09)8.3 × 10−118.8 × 10−27
    18q11.2(22)—rs527616G/C0.38(22)Overall0.97 (0.95–0.98)2.8 × 10−046.7 × 10−15
    18q11.2(22)CHST9rs1436904T/G0.4(22)Overall0.95 (0.94–0.97)1.1 × 10−079.9 × 10−15
    19p13.11(22)ELLrs4808801A/G0.34(22)Overall0.93 (0.91–0.95)2 × 10−124.7 × 10−28
    19q13.31(22)KCCN4/LYPD5rs3760982G/A0.46(22)Overall1.05 (1.03–1.07)2.1 × 10−081.4 × 10−16
    22q12.2(22)EM1D1rs132390T/C0.04(22)Overall1.04 (0.99–1.09)8.1 × 10−021.2 × 10−08
    22q13.1(22)MKL1rs6001930T/C0.1(22)Overall1.12 (1.09–1.16)5.7 × 10−164.4 × 10−34
    1q32.1(72)ZC3H11Ars4951011A/G0.16(72)Overall1.04 (1.02–1.07)5.4 × 10−041.3 × 10−05
    5q14.3(72)ARRDC3rs10474352C/T0.16(72)Overall0.94 (0.92–0.97)4.5 × 10−114.5 × 10−11
    15q26.1(72)PRC1rs2290203G/A0.21(72)Overall0.94 (0.92–0.96)1.8 × 10−078.07 × 10−10
    3p14.1(115)ATNX7rs1053338A/G0.14(115)Overall1.05 (1.02–1.07)5 × 10−045.3 × 10−11
    7q21.2(115)AKAP9rs6964587G/T0.39(115)Overall1.03 (1.02–1.05)2.2 × 10−049 × 10−11
    7q34(116)—rs11977670G/A0.43(116)Lobular1.06 (1.04–1.08)1.9 × 10−111 × 10−16
    1q21.1(23)RNF115rs12405132C/T0.37(23)Overall0.97 (0.95–0.99)1 × 10−036.3 × 10−10
    1q21.2(23)OTUD7Brs12048493A/C0.38(23)Overall1.04 (1.02–1.06)9.4 × 10−068.6 × 10−14
    1q43(23)EXO1rs72755295A/G0.03(23)Overall1.15 (1.09–1.2)8 × 10−081.7 × 10−14
    3p21.31(23)—rs6796502G/A0.1(23)Overall0.92 (0.89–0.95)2.5 × 10−085.5 × 10−15
    5p15.1(23)—rs13162653G/T0.45(23)Overall0.99 (0.97–1.010)1.8 × 10−015.4 × 10−07
    5p13.3(23)—rs2012709C/T0.48(23)Overall1.02 (1–1.04)2.1 × 10−021.2 × 10−08
    5q14.2(23)ATG10rs7707921A/T0.25(23)Overall0.96 (0.94–0.98)1.2 × 10−041.7 × 10−12
    6p22.1(23)—rs9257408G/C0.41(23)Overall1.02 (1–1.040)5.5 × 10−026.9 × 10−08
    7q32.3(23)FLJ43663rs4593472C/T0.35(23)Overall0.97 (0.95–0.99)7.9 × 10-041.8 × 10−11
    8p11.23(23)—rs13365225A/G0.18(23)Overall0.91 (0.89–0.93)1.2 × 10-151.4 × 10−20
    8q23.3(23)LINC00536rs13267382G/A0.36(23)Overall1.03 (1.01–1.05)8.7 × 10−041.6 × 10−11
    14q32.12(23)RIN3rs11627032T/C0.25(23)Overall0.96 (0.94–0.98)1.6 × 10−044.1 × 10−11
    17q11.2(23)ATAD5rs146699004GGT/G0.27(23)Overall0.97 (0.95–0.99)1.3 × 10−032 × 10−09
    17q25.3(23)—rs745570G/A0.5(23)Overall1.03 (1.01–1.05)2.1 × 10−033.9 × 10−10
    18q12.3(23)SETBP1rs6507583A/G0.07(23)Overall0.92 (0.89–0.96)9.5 × 10−062.2 × 10−12
    2p23.2(10)WDR43rs4577244C/T0.23(10)ER-/BRCA11.01 (0.99–1.03)2.4 × 10−014.3 × 10−01
    12p11.22(10)—rs7297051C/T0.24(10)ER-/BRCA10.89 (0.87–0.91)2.9 × 10−273 × 10−60
    13q22.1(10)—rs6562760G/A0.24(10)ER-/BRCA10.95 (0.93–0.97)8.6 × 10−061.5 × 10−09
    1p36.13(24)KLHDC7Ars2992756C/T0.49(24)Overall1.06 (1.04–1.08)1.3 × 10−111.6 × 10−15
    1p34.2(24)—rs4233486T/C0.36(24)Overall0.97 (0.95–0.98)2.3 × 10−049.1 × 10−09
    1p34.2(24)HIVEP3rs79724016T/G0.03(24)Overall0.93 (0.88–0.97)3.3 × 10−033.5 × 10−08
    1p34.1(24)PIK3R3, LOC101929626rs1707302G/A0.34(24)Overall0.96 (0.95–0.98)1.4 × 10−043.0 × 10−08
    1p32.3(24)—rs140850326I/D90.49(24)Overall0.97 (0.95–0.99)3.4 × 10−043.9 × 10−08
    1p22.3(24)—rs17426269G/A0.15(24)Overall1.05 (1.02–1.07)1.7 × 10−041.7 × 10−08
    1p12(24)—rs7529522T/C0.23(24)Overall1.06 (1.04–1.08)1.6 × 10−081.7 × 10−10
    1q22(24)TRIM46rs4971059G/A0.35(24)Overall1.05 (1.03–1.07)3.9 × 10−084.8 × 10−11
    1q32.1(24)PHLDA3rs35383942C/T0.06(24)Overall1.12 (1.08–1.17)12 × 10−093.8 × 10−13
    1q41(24)ESRRGrs11117758G/A0.21(24)Overall0.95 (0.93–0.97)7.7 × 10−073.9 × 10−09
    2p25.1(24)GRHL1rs113577745C/G0.1(24)Overall1.08 (1.05–1.11)3.7 × 10−073.9 × 10−10
    2p23.3(24)ADCY3rs6725517A/G0.41(24)Overall0.96 (0.94–0.98)7.5 × 10−062.9 × 10−12
    2q13(24)BCL2L11rs71801447CTTATGTT/C0.06(24)Overall1.09 (1.05–1.13)7.7 × 10−063.7 × 10−08
    2q36.3(24)—rs12479355A/G0.21(24)Overall0.96 (0.94–0.98)4.7 × 10−042.4 × 10−08
    3p13(24)FOXP1rs6805189T/C0.48(24)Overall0.97 (0.95–0.99)3.3 × 10−044.6 × 10−08
    3p12.1(24)VGLL3rs13066793A/G0.09(24)Overall0.94 (0.91–0.97)1.5 × 10−041.0 × 10−09
    3p12.1(24)CMSS1, FILIP1Lrs9833888G/T0.22(24)Overall1.06 (1.04–1.08)2.6 × 10−075.2 × 10−10
    3q23(24)ZBTB38rs34207738CTT/C0.41(24)Overall1.06 (1.04–1.08)1.4 × 10−093.2 × 10−15
    3q26.31(24)—rs58058861G/A0.21(24)Overall1.06 (1.04–1.09)1.6 × 10−081.9 × 10−10
    4p14(24)—rs6815814A/C0.26(24)Overall1.06 (1.04–1.08)6.1 × 10−086.1 × 10−13
    4q21.23(24)HELQ4:84370124TA/TAA0.47(24)Overall1.04 (1.02–1.05)1.7 × 10−042.2 × 10−09
    4q22.1(24)LOC105369192rs10022462C/T0.44(24)Overall1.04 (1.02–1.06)9.4 × 10−061.6 × 10−09
    4q28.1(24)—rs77528541G/T0.13(24)Overall0.95 (0.92–0.97)4.8 × 10−051.4 × 10−09
    5p15.33(24)AHRRrs116095464T/C0.05(24)Overall1.06 (1.02–1.1)2.6 × 10−033.8 × 10−09
    5q11.1(24)—rs72749841T/C0.16(24)Overall0.93 (0.91–0.96)8.5 × 10−067.2 × 10−10
    5q11.1(24)—rs35951924A/AT0.32(24)Overall0.95 (0.93–0.97)4.0 × 10−071.3 × 10−11
    5q22.1(24)NREPrs6882649T/G0.34(24)Overall0.97 (0.95–0.99)2.7 × 10−033.7 × 10−09
    5q31.1(24)HSPA4rs6596100C/T0.25(24)Overall0.94 (0.92–0.96)5.2 × 10−087.7 × 10−09
    5q35.1(24)—rs4562056G/T0.33(24)Overall1.05 (1.03–1.07)4.1 × 10−074.7 × 10−10
    6p22.3(24)ATXN1rs3819405C/T0.33(24)Overall0.96 (0.94–0.97)2.2 × 10−061.7 × 10−08
    6p22.3(24)CDKAL1rs2223621C/T0.38(24)Overall1.04 (1.02–1.06)1.0 × 10−043.0 × 10−10
    6p22.2(24)—rs71557345G/A0.07(24)Overall0.92 (0.88–0.96)8.4 × 10−053.9 × 10−10
    6q14.1(24)—rs12207986A/G0.47(24)Overall0.97 (0.95–0.98)2.0 × 10−041.5 × 10−09
    6q23.1(24)L3MBTL3rs6569648T/C0.24(24)Overall0.94 (0.92–0.96)4.8 × 10−083.0 × 10−12
    7p15.3(24)DNAH11, CDCA7Lrs7971A/G0.35(24)Overall0.96 (0.94–0.98)1.4 × 10−051.9 × 10−08
    7p15.1(24)CREB5rs17156577T/C0.11(24)Overall1.05 (1.02–1.08)3.8 × 10−044.3 × 10−09
    7q21.3(24)—rs17268829T/C0.28(24)Overall1.05 (1.03–1.07)1.3 × 10−064.5 × 10−13
    7q22.1(24)CUX1rs71559437G/A0.12(24)Overall0.93 (0.91–0.96)9.1 × 10−075.1 × 10−12
    8q22.3(24)—rs514192T/A0.32(24)Overall1.05 (1.03–1.07)3.7 × 10−065.6 × 10−09
    8q23.1(24)ZFPM3rs12546444A/T0.1(24)Overall0.93 (0.91–0.96)5.8 × 10−067.5 × 10−11
    8q24.13(24)—rs58847541G/A0.15(24)Overall1.08 (1.05–1.1)7.3 × 10−095.5 × 10−13
    9q33.1(24)ASTN2rs1895062A/G0.41(24)Overall0.94 (0.92–0.95)6.9 × 10−131.1 × 10−14
    9q33.3(24)LMX1Brs10760444A/G0.43(24)Overall1.03 (1.02–1.05)2.8 × 10−049.1 × 10−09
    9q34.2(24)ABOrs8176636I/D100.2(24)Overall1.03 (1.01–1.06)3.2 × 10−031.4 × 10−08
    10p14(24)—rs67958007TG/T0.12(24)Overall1.09 (1.06–1.12)1.8 × 10−091.7 × 10−10
    10q23.33(24)—rs140936696C/CAA0.18(24)Overall1.04 (1.02–1.07)7.4 × 10−044.2 × 10−08
    11p15(24)PIDD1rs6597981G/A0.48(24)Overall0.96 (0.94–0.97)5.7 × 10−071.4 × 10−12
    12q21.31(24)—rs202049448T/C0.34(24)Overall0.95 (0.93–0.97)2.5 × 10−072.7 × 10−08
    12q24.31(24)—rs206966C/T0.16(24)Overall1.05 (1.02–1.07)2.7 × 10−043.8 × 10−08
    14q32.33(24)ADSSL1rs10623258C/CTT0.45(24)Overall1.04 (1.02–1.06)2.7 × 10−052.3 × 10−08
    16q12.2(24)—rs28539243G/A0.49(24)Overall1.05 (1.03–1.07)3.6 × 10−089.1 × 10−15
    16q13(24)AMFRrs2432539G/A0.4(24)Overall1.03 (1.02–1.05)3.1 × 10−044.0 × 10−08
    16q24.2(24)—rs4496150C/A0.25(24)Overall0.96 (0.94–0.98)3.4 × 10−058.1 × 10−09
    17q21.2(24)CNTNAP1rs72826962C/T0.01(24)Overall1.2 (1.11–1.3)5.1 × 10−064.6 × 10−09
    17q21.31(24)KANSL1rs2532263G/A0.19(24)Overall0.95 (0.93–0.97)4.7 × 10−066.9 × 10−13
    18q12.1(24)GAREM1rs117618124T/C0.05(24)Overall0.89 (0.85–0.92)4.5 × 10−085.5 × 10−12
    19p13.13(24)NFIX1rs78269692T/C0.05(24)Overall1.09 (1.04–1.13)3.9 × 10−051.9 × 10−09
    19p13.12(24)—rs2594714G/A0.23(24)Overall0.97 (0.95–0.99)6.7 × 10−031.1 × 10−08
    19p13.11(24)GATAD2A, MIR640rs2965183G/A0.35(24)Overall1.04 (1.02–1.06)9.6 × 10−066.3 × 10−12
    19q13.22(24)GIPRrs71338792A/AT0.23(24)Overall1.05 (1.03–1.07)8.1 × 10−063.5 × 10−09
    20p12.3(24)MCM8rs16991615G/A0.06(24)Overall1.1 (1.06–1.14)1.4 × 10−071.9 × 10−09
    20q13.13(24)—rs6122906A/G0.18(24)Overall1.05 (1.03–1.07)2.9 × 10−052.5 × 10−10
    22q13.1(24)PLA2G6rs738321C/G0.38(24)Overall0.95 (0.93–0.97)2.7 × 10−081.0 × 10−13
    22q13.2(24)XRCC6rs73161324C/T0.06(24)Overall1.06 (1.02–1.09)3.8 × 10−032.0 × 10−09
    22q13.31(24)—rs28512361G/A0.11(24)Overall1.05 (1.02–1.08)5.7 × 10−042.3 × 10−08
    • ↵aRisk locus was originally discovered in the associated reference.

    • ↵bMAF reported in OncoArray controls.

    • ↵cReference for the refined SNP of interest.

    • ↵dBreast cancer subtype in which the refined SNP was evaluated.

    • ↵eORs reported for overall breast cancer OncoArray analysis.

    • ↵f95% confidence interval (CI) reported for overall breast cancer OncoArray analysis.

    • ↵gP values reported for overall breast cancer OncoArray analysis.

    • ↵hCombined meta-analysis P values reported for overall breast cancer.

Additional Files

  • Figures
  • Tables
  • Supplementary Data

    • Table S1 - Supplementary Table 1 includes 182 SNPs that have been associated with breast cancer risk. The results displayed in this table are stratified by ER-status from the OncoArray analyses.
PreviousNext
Back to top
Cancer Epidemiology Biomarkers & Prevention: 27 (4)
April 2018
Volume 27, Issue 4
  • Table of Contents
  • Table of Contents (PDF)
  • Editorial Board (PDF)

Sign up for alerts

View this article with LENS

Open full page PDF
Article Alerts
Sign In to Email Alerts with your Email Address
Email Article

Thank you for sharing this Cancer Epidemiology, Biomarkers & Prevention article.

NOTE: We request your email address only to inform the recipient that it was you who recommended this article, and that it is not junk mail. We do not retain these email addresses.

Enter multiple addresses on separate lines or separate them with commas.
Common Genetic Variation and Breast Cancer Risk—Past, Present, and Future
(Your Name) has forwarded a page to you from Cancer Epidemiology, Biomarkers & Prevention
(Your Name) thought you would be interested in this article in Cancer Epidemiology, Biomarkers & Prevention.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Citation Tools
Common Genetic Variation and Breast Cancer Risk—Past, Present, and Future
Jenna Lilyquist, Kathryn J. Ruddy, Celine M. Vachon and Fergus J. Couch
Cancer Epidemiol Biomarkers Prev April 1 2018 (27) (4) 380-394; DOI: 10.1158/1055-9965.EPI-17-1144

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Share
Common Genetic Variation and Breast Cancer Risk—Past, Present, and Future
Jenna Lilyquist, Kathryn J. Ruddy, Celine M. Vachon and Fergus J. Couch
Cancer Epidemiol Biomarkers Prev April 1 2018 (27) (4) 380-394; DOI: 10.1158/1055-9965.EPI-17-1144
del.icio.us logo Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Jump to section

  • Article
    • Abstract
    • Introduction
    • Initial Association Studies of Common Genetic Variants
    • Earliest Breast Cancer GWAS (2007–2013)
    • FGFR2: The First Consistently Replicated Hit
    • Early Strategies to Identify Additional Susceptibility Loci
    • SNP Discovery: COGS Era (2012–2015)
    • SNP Discovery: OncoArray Era (2015–Present)
    • Divide and Conquer: SNPs Associated with Breast Cancer Subtypes and Mutation Carriers
    • Race/Ethnicity
    • Putting It All Together—Polygenic Risk Scores
    • Breast Cancer Gene–Environment Interactions/Associations with Other Risk Factors
    • Understanding the Biology
    • Conclusions
    • Disclosure of Potential Conflicts of Interest
    • Acknowledgments
    • Footnotes
    • References
  • Figures & Data
  • Info & Metrics
  • PDF
Advertisement

Related Articles

Cited By...

More in this TOC Section

  • Biomarkers for Lung Cancer Screening and Detection
  • Immune Markers for Early Detection of Lung Cancer
  • Early Detection of Ovarian Cancer
Show more CEBP Focus
  • Home
  • Alerts
  • Feedback
  • Privacy Policy
Facebook   Twitter   LinkedIn   YouTube   RSS

Articles

  • Online First
  • Current Issue
  • Past Issues

Info for

  • Authors
  • Subscribers
  • Advertisers
  • Librarians

About Cancer Epidemiology, Biomarkers & Prevention

  • About the Journal
  • Editorial Board
  • Permissions
  • Submit a Manuscript
AACR logo

Copyright © 2021 by the American Association for Cancer Research.

Cancer Epidemiology, Biomarkers & Prevention
eISSN: 1538-7755
ISSN: 1055-9965

Advertisement