Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago

PLoS One. 2014 Nov 25;9(11):e112916. doi: 10.1371/journal.pone.0112916. eCollection 2014.


Introduction: Non-Hispanic (nH) Black and Hispanic women are disproportionately affected by early onset disease, later stage, and with more aggressive, higher grade and ER/PR negative breast cancers. The purpose of this analysis was to examine whether genetic ancestry could account for these variation in breast cancer characteristics, once data were stratified by self-reported race/ethnicity and adjusted for potential confounding by social and behavioral factors.

Methods: We used a panel of 100 ancestry informative markers (AIMs) to estimate individual genetic ancestry in 656 women from the "Breast Cancer Care in Chicago" study, a multi-ethnic cohort of breast cancer patients to examine the association between individual genetic ancestry and breast cancer characteristics. In addition we examined the association of individual AIMs and breast cancer to identify genes/regions that may potentially play a role in breast cancer disease disparities.

Results: As expected, nH Black and Hispanic patients were more likely than nH White patients to be diagnosed at later stages, with higher grade, and with ER/PR negative tumors. Higher European genetic ancestry was protective against later stage at diagnosis (OR 0.7 95%CI: 0.54-0.92) among Hispanic patients, and higher grade (OR 0.73, 95%CI: 0.56-0.95) among nH Black patients. After adjustment for multiple social and behavioral risk factors, the association with later stage remained, while the association with grade was not significant. We also found that the AIM SNP rs10954631 on chromosome 7 was associated with later stage (p = 0.02) and higher grade (p = 0.012) in nH Whites and later stage (p = 0.03) in nH Blacks.

Conclusion: Non-European genetic ancestry was associated with later stage at diagnosis in ethnic minorities. The relation between genetic ancestry and stage at diagnosis may be due to genetic factors and/or unmeasured environmental factors that are overrepresented within certain racial/ethnic groups.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • African Americans*
  • Aged
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / ethnology
  • Breast Neoplasms / genetics*
  • Chicago
  • European Continental Ancestry Group*
  • Female
  • Hispanic Americans*
  • Humans
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Receptors, Scavenger / genetics


  • Receptors, Scavenger
  • apoptosis inhibitor of macrophage protein, human