Screening for deleterious nonsynonymous single-nucleotide polymorphisms in genes involved in steroid hormone metabolism and response

Cancer Epidemiol Biomarkers Prev. 2005 May;14(5):1326-9. doi: 10.1158/1055-9965.EPI-04-0815.

Abstract

To facilitate selection of single-nucleotide polymorphisms (SNP) for molecular epidemiologic studies investigating the hormonal carcinogenesis hypothesis, we used two sequence homology-based tools [Sort Intolerant from Tolerant (SIFT) and Polymorphism Phenotype (PolyPhen)] to predict the potential impact a nonsynonymous SNP (nsSNP), which results in an amino acid substitution, may have on the activity of proteins encoded by genes involved in the steroid hormone metabolism and response pathway. We screened 137 variants. Of these, 28% were predicted by SIFT and PolyPhen as having a potentially damaging effect on protein function. Investigation into the association of these variant alleles with hormone-related cancers may prove to be fruitful.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Algorithms*
  • Databases, Protein
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods*
  • Gonadal Steroid Hormones / genetics*
  • Gonadal Steroid Hormones / metabolism
  • Humans
  • Neoplasms, Hormone-Dependent / genetics*
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • Gonadal Steroid Hormones