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Protective Effect of S10S Variant in ESR1 Gene Against Breast Cancer Risk

Strategic Insights

— 1 min read

A Spanish population study has discovered a protective effect associated with a specific variant in the estrogen receptor (ESR1) gene, reducing the risk of breast cancer. The research, published in the International Journal of Cancer, found that individuals with the S10S variant in the ESR1 gene had a lower risk of breast cancer compared to those without the variant. This protective effect is significant, particularly given the role of estrogens in breast tissue proliferation, differentiation, and cancer development.

Key Takeaways:

  • The S10S variant in the ESR1 gene was found to have a dominant protective effect against breast cancer risk in a Spanish population, with an estimated odds ratio (OR) of 0.75 (95% CI=0.58-0.97; p=.03).
  • The protective effect was observed in a study of 550 consecutive and unrelated sporadic Spanish breast cancer patients and 564 healthy Spanish controls.
  • Functional studies did not show changes in the RNA stability, but a small subset of individuals carried a haplotype combination that corroborated the protection.
  • No other single nucleotide polymorphisms (SNPs) in the ESR1 or progesterone receptor (PGR) genes were found to be associated with sporadic breast cancer.
  • The study's findings confirm the protective role of the S10S variant in ESR1, previously reported in an Asian and a European-American population.
  • The researchers concluded that the S10S variant in ESR1 may be a potential marker for predicting breast cancer risk.

Statistics:

  • 550 consecutive and unrelated sporadic Spanish breast cancer patients were studied.
  • 564 healthy Spanish controls were studied.
  • The estimated odds ratio (OR) for the S10S variant in ESR1 was 0.75 (95% CI=0.58-0.97; p=.03).
  • The study considered 4 single nucleotide polymorphisms (SNPs) in ESR1 and 4 in PGR.

Sources:

  • Fernandez, L.P., et al. "Estrogen and progesterone receptor gene polymorphisms and sporadic breast cancer risk: a Spanish case-control study." Int J Cancer, 2006;119(2):467-471.
  • International Journal of Cancer. (Publisher: Wiley-Liss, Division John Wiley & Sons Inc.). Available at: 111 River St., Hoboken, NJ 07030, USA.
  • Spanish National Cancer Center. Contact: G. Ribas, Human Genetics Group, Human Cancer Genetics Program, CNIO, Madrid, Spain.

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