The promoter and the enhancer region of the KLK 3 (prostate specific antigen) gene is frequently mutated in breast tumours and in breast carcinoma cell lines
1999

Mutations in the PSA Gene in Breast Cancer

Sample size: 13 publication Evidence: moderate

Author Information

Author(s): Majumdar S, Diamandis E P

Primary Institution: Mount Sinai Hospital

Hypothesis

The study investigates the molecular mechanisms underlying the expression of the PSA gene in breast cancer.

Conclusion

The study found several mutations in the promoter and enhancer regions of the PSA gene in breast tumors, which may affect its expression.

Supporting Evidence

  • About 70% of breast cancers produce PSA.
  • No mutations were found in the coding portion of the PSA gene.
  • A polymorphism was observed in exon 2 from three breast tumors.
  • 16 different mutational hotspots were detected in the promoter/enhancer region.
  • The androgen response element in the proximal promoter was mutated in four tumors.

Takeaway

Researchers looked at breast cancer samples to see if there were changes in a gene related to prostate cancer, and they found some important mutations.

Methodology

The study analyzed nine breast tumors and four breast cancer cell lines, examining the PSA gene's exons, promoter, and enhancer regions for mutations.

Participant Demographics

The study included nine breast tumors and four breast cancer cell lines.

Digital Object Identifier (DOI)

10.1038/sj.bjc.6690254

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