ArticleBMC genetics2014
PSPHL and breast cancer in African American women: causative gene or population stratification?
Article in BMC genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 16 citations in OpenAlex.
- Gene expression associated with endocrine therapy resistance in estrogen receptor-positive breast cancer.Scientific reports · 2025Article
- Transcriptomics and chromatin accessibility in multiple African population samples.bioRxiv : the preprint server for biology · 2023Article
- Survival Disparities in US Black Compared to White Women with Hormone Receptor Positive-HER2 Negative Breast Cancer.International journal of environmental research and public health · 2023Review
- Review
- A framework for transcriptome-wide association studies in breast cancer in diverse study populations.Genome biology · 2020Article
- A Review of the Hereditary Component of Triple Negative Breast Cancer: High- and Moderate-Penetrance Breast Cancer Genes, Low-Penetrance Loci, and the Role of Nontraditional Genetic Elements.Journal of oncology · 2019Review
- Lung cancer health disparities.Carcinogenesis · 2018Review
- Race-associated biological differences among luminal A and basal-like breast cancers in the Carolina Breast Cancer Study.Breast cancer research : BCR · 2017Article
- Comparative Transcriptome Profiling Reveals Coding and Noncoding RNA Differences in NSCLC from African Americans and European Americans.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017Article
- Racial health disparities in ovarian cancer: not just black and white.Journal of ovarian research · 2017Review
- MicroRNAs and Their Impact on Breast Cancer, the Tumor Microenvironment, and Disparities.Advances in cancer research · 2017Review
- Outcome Disparities in African American Compared with European American Women with ER+HER2- Tumors Treated within an Equal-Access Health Care System.Ethnicity & disease · 2016Article
- Effect of obesity on molecular characteristics of invasive breast tumors: gene expression analysis in a large cohort of female patients.BMC obesity · 2016Article
- Race-associated biological differences among Luminal A breast tumors.Breast cancer research and treatment · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPhophoserine 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.
resultsPCR 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).
conclusionsThus, 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.
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