Skewed X chromosome inactivation and early-onset breast cancer

Jeffrey P. Struewing, M. A. Pineda, M. E. Sherman, J. Lissowska, L. A. Brinton, B. Peplonska, A. Bardin-Mikolajczak, M. Garcia-Closas

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Background: Skewed X chromosome inactivation may be more common in women with epithelial ovarian cancer and early-onset breast cancer. We tested this hypothesis in a group of 235 breast cancer patients and 253 controls (mean age 45.8 years) from a larger population based case control study. Methods: We measured X chromosome inactivation with the AR gene assay in lymphocyte DNA digested with the methylation specific enzyme Hpall. We judged skewness using an adjusted measure (relative to the undigested sample) with a cut point of 75%, and an unadjusted measure where skewed was defined as >90% of the signal from one allele in the Hpall digested sample. Results: There were no significant differences in any of the skewing measures between cases and controls. Using the adjusted skewing measure among pre-menopausal subjects under the age of 50, 14% of cases versus 11% of controls were skewed, OR=1.2, 95% CI 0.6 to 2.3; using the unadjusted measure, OR=0.9, 95% CI 0.4 to 2.0. Conclusions: While we cannot rule out a subtle difference of approximately twofold or less, we have failed to find a significant difference in the prevalence of skewed X chromosome inactivation in younger women with breast cancer compared to controls.

Original languageEnglish (US)
Pages (from-to)48-53
Number of pages6
JournalJournal of medical genetics
Issue number1
StatePublished - Jan 2006

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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