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Cancer Epidemiology, Biomarkers & Prevention
Cancer Epidemiology, Biomarkers & Prevention
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Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions

Siddhartha P. Kar, Andrew Berchuck, Simon A. Gayther, Ellen L. Goode, Kirsten B. Moysich, Celeste Leigh Pearce, Susan J. Ramus, Joellen M. Schildkraut, Thomas A. Sellers and Paul D.P. Pharoah
Siddhartha P. Kar
1Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
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  • For correspondence: sk718@medschl.cam.ac.uk pp10001@medschl.cam.ac.uk
Andrew Berchuck
2Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina.
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Simon A. Gayther
3Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California.
4Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
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Ellen L. Goode
5Department of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, Minnesota.
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Kirsten B. Moysich
6Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York.
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Celeste Leigh Pearce
7Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, Michigan.
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Susan J. Ramus
8School of Women's and Children's Health, University of New South Wales, Sydney, Australia.
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Joellen M. Schildkraut
9Department of Public Health Sciences, University of Virginia School of Medicine, Virginia.
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Thomas A. Sellers
10Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida.
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Paul D.P. Pharoah
1Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
11Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
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  • For correspondence: sk718@medschl.cam.ac.uk pp10001@medschl.cam.ac.uk
DOI: 10.1158/1055-9965.EPI-17-0315 Published April 2018
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    Figure 1.

    An outline of the most common steps applied in the functional characterization of cancer risk loci. The aim of this pipeline is to identify the genes and associated molecular and cellular pathways through which cancer risk SNPs at each locus are most likely to exert their effects on cancer susceptibility.

Tables

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  • Table 1.

    New EOC risk loci identified by the OncoArray meta-analysis at P < 5 × 10−8 (ref. 23)a

    LocusLead SNPPhenotypeEffect alleleEAFOR (95% CI)P
    3q22.3rs112071820MucinousGCCAG0.281.29 (1.20–1.37)1.5E−13
    3q28rs9870207S. borderline + LGSOCA0.691.19 (1.12–1.27)4.5E−08
    4q32.3rs13113999S. borderlineT0.521.23 (1.14–1.32)4.7E−08
    5q12.3rs555025179EndometrioidGACAC0.531.18 (1.11–1.26)4.5E−08
    8q21.11rs150293538S. borderline + LGSOCT0.982.19 (1.65–2.90)2.0E−09
    9q31.1rs320203bMucinousA0.851.29 (1.18–1.41)1.7E−08
    10q24.33rs7902587S. borderline + LGSOCT0.101.29 (1.18–1.41)4.0E−08
    18q11.2rs8098244S. borderline + LGSOCA0.281.19 (1.12–1.27)3.9E−08
    22q12.1rs6005807HGSOCC0.901.17 (1.10–1.23)1.2E−08
    2q13rs2165109HGSOCC0.251.09 (1.05–1.12)2.0E−08
    8q24.21rs9886651HGSOCG0.461.08 (1.05–1.11)1.9E−09
    12q24.31rs7953249HGSOCG0.421.08 (1.06–1.11)4.5E−10
    • Abbreviations: EAF, effect allele frequency; S. borderline, serous borderline.

    • ↵aIn European ancestry populations.

    • ↵bAll risk loci listed except rs320203 had BFDP <10%.

  • Table 2.

    Previously published EOC risk loci confirmed by the OncoArray meta-analysis at P < 5 × 10−8 (ref. 23)a,b

    LocusLead SNPPhenotypeEffect alleleEAFOR (95% CI)cPRef.
    1p34.3rs58722170SerousC0.221.10 (1.07–1.13)1.4E−0925
    2q14.1rs752590MucinousG0.211.30 (1.21–1.39)2.2E−1253
    2q31.1rs711830MucinousA0.321.27 (1.20–1.35)1.1E−1453
    2q31.1rs6755777SerousT0.321.12 (1.09–1.15)2.7E−1528
    3q25.31rs62274041HGSOCG0.051.57 (1.48–1.66)2.1E−5722
    5p15.33rs10069690SerousT0.261.13 (1.09–1.17)1.5E−1237
    5p15.33rs7705526S. borderlineA0.331.38 (1.29–1.48)5.5E−1937
    8q21.13rs76837345HGSOCG0.071.20 (1.13–1.28)9.0E−1026
    8q24.21rs1400482SerousG0.871.23 (1.19–1.28)7.4E−2628
    9p22.2rs10962692HGSOCG0.801.36 (1.30–1.42)1.4E−4722
    9q34.2rs8176685HGSOCG0.191.15 (1.10–1.19)5.2E−1225
    10p12.31rs144962376SerousTCCCT0.311.10 (1.06–1.13)6.6E−0926
    17q12rs7405776SerousG0.411.10 (1.07–1.14)1.9E−1035
    17q12rs11651755Clear cellC0.490.79 (0.73–0.86)6.8E−0935
    17q21.31rs7207826SerousC0.271.14 (1.10–1.18)1.2E−1436
    17q21.32rs1879586HGSOCG0.181.15 (1.10–1.19)2.5E−1226
    19p13.11rs4808075HGSOCC0.301.20 (1.16–1.24)3.3E−2429
    19q13.2rs688187MucinousA0.311.43 (1.33–1.53)1.2E−2253
    In Han Chinese ancestry populations only
    9q22.33rs1413299SerousC0.401.53 (1.25–1.86)1.9E−0824
    10p11.21rs1192691SerousA0.360.81 (0.70–0.95)2.6E−0824
    • Abbreviations: EAF, effect allele frequency; ref., reference; S. borderline, serous borderline.

    • ↵aIn European ancestry populations unless otherwise specified.

    • ↵bAll risk loci listed had BFDP <10%.

    • ↵cAll ORs, CIs, and P values from the OncoArray meta-analysis (ref. 23).

  • Table 3.

    Previously published EOC risk loci not confirmed by OncoArray meta-analysis at P < 5 × 10−8 (ref. 23)a,b

    LocusLead SNPPhenotypeEffect alleleEAFOR (95% CI)cPRef.
    1p36.12rs56318008All invasive EOCT0.151.08 (1.04–1.12)8.4E−0525
    4q26rs17329882All invasive EOCC0.241.08 (1.04–1.11)2.5E−0625
    4q32.3rs4691139BRCA1 mutation+G0.471.16 (1.09–1.23)4.3E−0741
    6p22.1rs6456822All invasive EOCT0.691.07 (1.04–1.10)1.2E−0625
    17q11.2rs143663961All invasive EOCA0.731.08 (1.05–1.11)1.3E−0725
    • Abbreviations: EAF, effect allele frequency; ref., reference; S. borderline, serous borderline.

    • ↵aIn European ancestry populations.

    • ↵bAll risk loci listed had BFDP >10%.

    • ↵cAll ORs, CIs, and P values from the OncoArray meta-analysis (ref. 23).

  • Table 4.

    Pleiotropic cancer risk loci shared between EOC and breast and/or prostate cancers identified at P < 10−8 specifically by cross-cancer type meta-analysis in European ancestry populations (ref. 40)a

    LocusLead SNPEffect allele, EAFCancer typeOR (95% CI)P
    Associations with ovarian, breast, and prostate cancer risk with the same direction of effect
    2q13rs17041869ABreast cancer0.97 (0.94–0.99)7.1 × 10−3
    0.88Ovarian cancerb0.93 (0.88–0.97)5.3 × 10−4
    Prostate cancer0.92 (0.89–0.95)2.6 × 10−6
    Meta-analysis0.94 (0.93–0.96)5.1 × 10−9
    11q12.3rs7937840TBreast cancer1.04 (1.02–1.06)3.6 × 10−5
    0.26Ovarian cancer1.05 (1.01–1.09)5.8 × 10−3
    Prostate cancer1.05 (1.02–1.08)8.9 × 10−4
    Meta-analysis1.05 (1.03–1.06)5.0 × 10−9
    19p13.11rs1469713ABreast cancer0.95 (0.94–0.97)9.9 × 10−8
    0.64Ovarian cancer0.96 (0.93–0.99)6.3 × 10−3
    Prostate cancer0.97 (0.94–0.99)1.0 × 10−2
    Meta-analysis0.96 (0.95–0.97)3.4 × 10−10
    Associations with ovarian and breast cancer risk with the same direction of effect
    9q31.1rs200182588GBreast cancer0.96 (0.94–0.98)1.9 × 10−5
    0.56Ovarian cancer0.93 (0.89–0.96)2.8 × 10−6
    Meta-analysis0.95 (0.94–0.97)8.9 × 10−9
    15q26.1rs8037137TBreast cancer1.07 (1.04–1.10)1.8 × 10−7
    0.86Ovarian cancer1.09 (1.04–1.14)2.1 × 10−4
    Meta-analysis1.07 (1.05–1.10)9.1 × 10−10
    • Abbreviations: EAF, effect allele frequency; ref., reference.

    • ↵aThis meta-analysis did not include data from the OncoArray project (ref. 23).

    • ↵bOvarian cancer refers to all invasive EOCs.

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Cancer Epidemiology Biomarkers & Prevention: 27 (4)
April 2018
Volume 27, Issue 4
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Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions
Siddhartha P. Kar, Andrew Berchuck, Simon A. Gayther, Ellen L. Goode, Kirsten B. Moysich, Celeste Leigh Pearce, Susan J. Ramus, Joellen M. Schildkraut, Thomas A. Sellers and Paul D.P. Pharoah
Cancer Epidemiol Biomarkers Prev April 1 2018 (27) (4) 395-404; DOI: 10.1158/1055-9965.EPI-17-0315

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Common Genetic Variation and Susceptibility to Ovarian Cancer: Current Insights and Future Directions
Siddhartha P. Kar, Andrew Berchuck, Simon A. Gayther, Ellen L. Goode, Kirsten B. Moysich, Celeste Leigh Pearce, Susan J. Ramus, Joellen M. Schildkraut, Thomas A. Sellers and Paul D.P. Pharoah
Cancer Epidemiol Biomarkers Prev April 1 2018 (27) (4) 395-404; DOI: 10.1158/1055-9965.EPI-17-0315
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