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Background  Phophoserine phosphatase-like ( PSPHL ) is expressed at significantly higher levels in breast tumors from African American women (AAW) compared to Caucasian women (CW). How overexpression of  PSPHL  contributes to outcome disparities is unclear, thus, molecular mechanisms driving expression differences between populations were evaluated.    Results  PCR was used to detect deletion of 30-Kb of chromosome 7p11 including the first three exons of  PSPHL  using genomic DNA from AAW (199 with invasive breast cancer, 360 controls) and CW (invasive breast cancer =589, 364 controls). Gene expression levels were evaluated by qRT-PCR using RNA isolated from tumor tissue and blood. Data were analyzed using chi-square analysis and Mann–Whitney U-tests; P < 0.05 was used to define significance. Gene expression levels correlated with deletion status: patients homozygous for the deletion had no detectable expression of  PSPHL , while heterozygous had expression levels 2.1-fold lower than those homozygous for retention of  PSPHL . Homozygous deletion of  PSPHL  was detected in 61% of CW compared to 6% of AAW with invasive breast cancer (P < 0.0001); genotype frequencies did not differ significantly between AAW with and without breast cancer (P = 0.211).    Conclusions  Thus, deletion of 7p11, which prevents expression of  PSPHL , is significantly higher in CW compared to AAW, suggesting that this 30-kb deletion and subsequent disruption of  PSPHL  may be a derived trait in Caucasians. The similar frequency of the deletion allele in AAW with and without invasive breast cancer suggests that this difference represent population stratification, and does not contribute to cancer disparities.

PSPHL and breast cancer in African American women: causative gene or population stratification?