Familial Cancer

, Volume 11, Issue 3, pp 429–439 | Cite as

Breast cancer risk factors differ between Asian and white women with BRCA1/2 mutations

  • Monique A. de Bruin
  • Ava Kwong
  • Benjamin A. Goldstein
  • Jafi A. Lipson
  • Debra M. Ikeda
  • Lisa McPherson
  • Bhavna Sharma
  • Ani Kardashian
  • Elizabeth Schackmann
  • Kerry E. Kingham
  • Meredith A. Mills
  • Dee W. West
  • James M. Ford
  • Allison W. KurianEmail author
Original Article


The prevalence and penetrance of BRCA1 and BRCA2 (BRCA1/2) mutations may differ between Asians and whites. We investigated BRCA1/2 mutations and cancer risk factors in a clinic-based sample. BRCA1/2 mutation carriers were enrolled from cancer genetics clinics in Hong Kong and California according to standardized entry criteria. We compared BRCA mutation position, cancer history, hormonal and reproductive exposures. We analyzed DNA samples for single-nucleotide polymorphisms reported to modify breast cancer risk. We performed logistic regression to identify independent predictors of breast cancer. Fifty Asian women and forty-nine white American women were enrolled. BRCA1 mutations were more common among whites (67 vs. 42 %, p = 0.02), and BRCA2 mutations among Asians (58 vs. 37 %, p = 0.04). More Asians had breast cancer (76 vs. 53 %, p = 0.03); more whites had relatives with breast cancer (86 vs. 50 %, p = 0.0003). More whites than Asians had breastfed (71 vs. 42 %, p = 0.005), had high BMI (median 24.3 vs. 21.2, p = 0.04), consumed alcohol (2 drinks/week vs. 0, p < 0.001), and had oophorectomy (61 vs. 34 %, p = 0.01). Asians had a higher frequency of risk-associated alleles in MAP3K1 (88 vs. 59 %, p = 0.005) and TOX3/TNRC9 (88 vs. 55 %, p = 0.0002). On logistic regression, MAP3K1 was associated with increased breast cancer risk for BRCA2, but not BRCA1 mutation carriers; breast density was associated with increased risk among Asians but not whites. We found significant differences in breast cancer risk factors between Asian and white BRCA1/2 mutation carriers. Further investigation of racial differences in BRCA1/2 mutation epidemiology could inform targeted cancer risk-reduction strategies.


Breast cancer Risk factors BRCA1/2 Race/ethnicity SNPs 



1. Stanford University Cancer Institute 2008 Developmental Research Award in Population Sciences; NCI R03 CA130065. 2. STRIDE (Stanford Translational Research Integrated Database Environment) is a research and development project at Stanford University to create a standards-based informatics platform supporting clinical and translational research [54]. The project described was supported by the National Center for Research Resources and the National Center for Advancing Translational Sciences, National Institutes of Health, through grant UL1 RR025744. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.

Conflict of interest

The authors declare that they have no conflicts of interest.

Ethical standards

The research methods in this study comply with the current laws of the countries in which the research was conducted.


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Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  • Monique A. de Bruin
    • 1
  • Ava Kwong
    • 2
  • Benjamin A. Goldstein
    • 1
  • Jafi A. Lipson
    • 3
  • Debra M. Ikeda
    • 3
  • Lisa McPherson
    • 1
  • Bhavna Sharma
    • 1
  • Ani Kardashian
    • 1
  • Elizabeth Schackmann
    • 1
  • Kerry E. Kingham
    • 1
  • Meredith A. Mills
    • 1
  • Dee W. West
    • 5
  • James M. Ford
    • 4
  • Allison W. Kurian
    • 6
    Email author
  1. 1.Department of MedicineStanford University School of MedicineStanfordUSA
  2. 2.Division of Breast Surgery, University of Hong Kong Li Ka Shing Faculty of MedicineThe Hong Kong Hereditary Breast Cancer Family RegistryHong KongChina
  3. 3.Department of RadiologyStanford University School of MedicineStanfordUSA
  4. 4.Departments of Medicine and GeneticsStanford University School of MedicineStanfordUSA
  5. 5.Department of Health Research and PolicyStanford University School of MedicineStanfordUSA
  6. 6.Departments of Medicine and Health Research and PolicyStanford University School of MedicineStanfordUSA

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