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Cancer Epidemiology, Biomarkers & Prevention
Cancer Epidemiology, Biomarkers & Prevention
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Breast and Ovarian Cancer in Relatives of Cancer Patients, with and without BRCA Mutations

Jennifer S. Lee, Esther M. John, Valerie McGuire, Anna Felberg, Kimberly L. Ostrow, Richard A. DiCioccio, Frederick P. Li, Alexander Miron, Dee W. West and Alice S. Whittemore
Jennifer S. Lee
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Esther M. John
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Valerie McGuire
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Anna Felberg
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Kimberly L. Ostrow
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Richard A. DiCioccio
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Frederick P. Li
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Alexander Miron
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Dee W. West
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Alice S. Whittemore
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DOI: 10.1158/1055-9965.EPI-05-0687 Published February 2006
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    Figure 1.

    Distribution of screened non-Hispanic White patients with invasive cancers of the breast or ovary. Breast cancer patients were tested for BRCA1 and BRCA2 mutations; ovarian cancer patients were tested only for BRCA2 mutations.

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  • Table 1.

    Distribution of breast and ovarian cancer patients according to age at diagnosis and BRCA mutation status, by cancer site

    Breast cancer patients, n (%)Ovarian cancer patients, n (%)
    Age (y)
        <40150 (23)29 (9)
        40-49176 (26)91 (27)
        50-65343 (51)219 (64)
    BRCA status
        BRCA1-positive18 (3)29 (9)
        BRCA2-positive15 (2)—*
        Negative491 (74)259* (76)
        Untested145 (21)51 (15)
    All patients669 (100)339 (100)
    • ↵* BRCA2 testing was not done on ovarian cancer patients.

  • Table 2.

    SIRs for breast cancer in first-degree relatives of cancer patients, by patients' cancer site and BRCA mutation status

    Patient's BRCA statusPatient's cancer site
    P*
    Breast cancer (n = 670)
    Ovarian cancer (n = 342)
    No.OESIR (95% CI)No.OESIR (95% CI)
    BRCA1-positive48171.610.6 (5.2-21.6)76103.03.3 (1.4-7.3)0.02
    BRCA2-positive47122.74.4 (1.1-16.9)—†————
    Negative/untested1,883387258.01.5 (1.2-1.8)8815247.31.1 (0.8-1.6)0.12
    All1,978416260.01.6 (1.3-2.0)9576251.71.2 (1.0-1.6)
    • Abbreviations: O, number of cancers; E, expected number (based on U.S. incidence rates).

    • ↵* Two-tailed test of similar SIRs in relatives of breast and ovarian cancer patients.

    • ↵† BRCA2 testing was not done among ovarian cancer patients.

  • Table 3.

    SIRs for ovarian cancer in first-degree relatives of cancer patients, by patients' cancer site and BRCA mutation status

    Patient's BRCA statusPatient's cancer site
    P*
    Breast cancer (n = 670)
    Ovarian cancer (n = 342)
    No.OESIR (95% CI)No.OESIR (95% CI)
    BRCA1-positive4820.37.9 (1.2-53.0)7650.411.3 (3.6-35.9)0.37
    BRCA2-positive4720.44.6 (0.6-38.0)—†————
    Negative/untested1,8833437.80.9 (0.5-1.4)881136.81.9 (1.0-4.0)0.04
    All1,9783842.21.0 (0.7-1.4)957187.22.5 (1.6-4.0)
    • ↵* Two-tailed test of similar SIRs in relatives of breast and ovarian cancer patients.

    • ↵† BRCA2 testing was not done among ovarian cancer patients.

  • Table 4.

    Distribution of mutation position in patients with BRCA1 mutations, by cancer site

    ExonBreast cancer, n (%)Ovarian cancer, n (%)
    1-57 (39)12 (41)
    6-102 (11)1 (3)
    115 (28)12 (41)
    12-161 (6)2 (7)
    17-243 (17)2 (7)
    Total18 (100)29 (100)
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Cancer Epidemiology Biomarkers & Prevention: 15 (2)
February 2006
Volume 15, Issue 2
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Breast and Ovarian Cancer in Relatives of Cancer Patients, with and without BRCA Mutations
Jennifer S. Lee, Esther M. John, Valerie McGuire, Anna Felberg, Kimberly L. Ostrow, Richard A. DiCioccio, Frederick P. Li, Alexander Miron, Dee W. West and Alice S. Whittemore
Cancer Epidemiol Biomarkers Prev February 1 2006 (15) (2) 359-363; DOI: 10.1158/1055-9965.EPI-05-0687

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Breast and Ovarian Cancer in Relatives of Cancer Patients, with and without BRCA Mutations
Jennifer S. Lee, Esther M. John, Valerie McGuire, Anna Felberg, Kimberly L. Ostrow, Richard A. DiCioccio, Frederick P. Li, Alexander Miron, Dee W. West and Alice S. Whittemore
Cancer Epidemiol Biomarkers Prev February 1 2006 (15) (2) 359-363; DOI: 10.1158/1055-9965.EPI-05-0687
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