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Cancer Epidemiology, Biomarkers & Prevention
Cancer Epidemiology, Biomarkers & Prevention
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Germline Missense Variants in the BTNL2 Gene Are Associated with Prostate Cancer Susceptibility

Liesel M. FitzGerald, Akash Kumar, Evan A. Boyle, Yuzheng Zhang, Laura M. McIntosh, Suzanne Kolb, Marni Stott-Miller, Tiffany Smith, Danielle M. Karyadi, Elaine A. Ostrander, Li Hsu, Jay Shendure and Janet L. Stanford
Liesel M. FitzGerald
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Akash Kumar
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Evan A. Boyle
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Yuzheng Zhang
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Laura M. McIntosh
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Suzanne Kolb
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Marni Stott-Miller
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Tiffany Smith
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Danielle M. Karyadi
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Elaine A. Ostrander
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Li Hsu
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Jay Shendure
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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Janet L. Stanford
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center; 2Department of Genome Sciences, School of Medicine, 3Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington; and 4Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland
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DOI: 10.1158/1055-9965.EPI-13-0345 Published September 2013
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    Figure 1.

    HPC pedigrees of 2 families with segregating BTNL2 variants. Participants selected for WES in 19 HPC families are indicated by arrows. Affected men indicated by black shading. The remaining symbols are described in the key. Squares indicate males and circles indicate females. The age at diagnosis of men with prostate cancer is shown under the squares. A slash through the symbol indicates that the individual is deceased. The carrier status of the female in family 11 was confirmed by Sanger sequencing.

Tables

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  • Table 1.

    Characteristics of 19 HPC families with WES data

    Family IDNo. of HPC casesMean age at HPC diagnosisNo. of WES cases with aggressive HPCaNo. of WES cases with early-onset HPCaNo. of WES cases per familyNo. of WES unaffected men per family
    1964.42341
    2762.2234
    3769.92251
    4967.34251
    5868.03141
    6660.6155
    71164.62231
    8554.0233b1
    9757.2323
    10666.0324
    11759.0535b
    12968.42141
    13960.0155
    141065.12661
    15761.9334
    16863.4044
    17966.21221
    181065.62351
    19767.83351
    Total15163.843558011
    • ↵aA total of 23 cases had both aggressive and early-onset prostate cancer.

    • ↵bWES failed or was of low quality for one of the affected men in these families.

  • Table 2.

    Results for SNVsa identified by WES and genotyped in 270 independent HPC families of European ancestry

    DiscoveryValidation
    GeneGenomic position (hg19)Variant and rs IDProteinMAF in ESPMAF in ClinSeqNo. of WES families with carriers (Aff/Unaff)bNo. (%) of 270 families with affected carriersMAF in 819 genotyped affected mencMAF in 496 genotyped unaffected mencPd
    BTNL2Chr6: 32,363,888C > T rs41441651Missense: p.Asp336Asn0.0090.0052 (10/0)9 (3.33)0.007300.0032
    BTNL2Chr6: 32,362,521C > A rs28362675Missense: p.Gly454Cys0.0080.0052 (10/0)8 (2.96)0.006100.0070
    • ↵aTop ranked (P < 0.05) SNVs identified by WES of 19 HPC families.

    • ↵bNumber of affected carriers/number of unaffected carriers.

    • ↵cThe number of affected carriers for rs41441651 and rs28362675 is 12 and 10, respectively, in the 270 independent HPC families.

    • ↵dMonte Carlo–based one-sided P value from the PedGenie χ2 test for association based on the 270 independent HPC families.

  • Table 3.

    OR and 95% CI for prostate cancer associated with SNVs in BTNL2 in European Americans

    Cases (n = 1,155)Controls (n = 1,060)
    Genotypen (%)n (%)ORa (95% CI)P
    rs41441651
     CC1,129 (97.8)1,051 (99.2)1.00
     CT or TTb26 (2.3)9 (0.9)2.73 (1.27–5.87)0.010
    rs28362675
     CC1,131 (97.9)1,051 (99.2)1.00
     CA or AAb24 (2.1)9 (0.9)2.52 (1.16–5.46)0.019
    • ↵aAdjusted for age.

    • ↵bOne case is homozygous variant for both SNVs; 22 cases and 9 controls are heterozygous for both SNVs.

Additional Files

  • Figures
  • Tables
  • Files in this Data Supplement:

    • Supplementary Figure Legend - PDF - 59K, Legend for Supplementary Figure 1.
    • Supplementary Figure 1 - PDF - 53K, Flow diagram of results from family- and bioinformatics-based filtering of whole-exome sequencing data and confirmation steps.
    • Supplementary Table 1 - PDF - 109K, Information on the 174 single nucleotide variants identified by whole-exome sequencing.
    • Supplementary Table 2 - PDF - 61K, Information on the 22 insertion/deletions identified by whole-exome sequencing.
    • Supplementary Table 3 - PDF - 51K, Summary of the whole-exome sequencing statistics for the 91 members of 19 hereditary prostate cancer families.
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Cancer Epidemiology Biomarkers & Prevention: 22 (9)
September 2013
Volume 22, Issue 9
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Germline Missense Variants in the BTNL2 Gene Are Associated with Prostate Cancer Susceptibility
Liesel M. FitzGerald, Akash Kumar, Evan A. Boyle, Yuzheng Zhang, Laura M. McIntosh, Suzanne Kolb, Marni Stott-Miller, Tiffany Smith, Danielle M. Karyadi, Elaine A. Ostrander, Li Hsu, Jay Shendure and Janet L. Stanford
Cancer Epidemiol Biomarkers Prev September 1 2013 (22) (9) 1520-1528; DOI: 10.1158/1055-9965.EPI-13-0345

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Germline Missense Variants in the BTNL2 Gene Are Associated with Prostate Cancer Susceptibility
Liesel M. FitzGerald, Akash Kumar, Evan A. Boyle, Yuzheng Zhang, Laura M. McIntosh, Suzanne Kolb, Marni Stott-Miller, Tiffany Smith, Danielle M. Karyadi, Elaine A. Ostrander, Li Hsu, Jay Shendure and Janet L. Stanford
Cancer Epidemiol Biomarkers Prev September 1 2013 (22) (9) 1520-1528; DOI: 10.1158/1055-9965.EPI-13-0345
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