Genotypic and allelic frequencies of SULT1A1 polymorphisms in women receiving adjuvant tamoxifen therapy

• Published in: Breast cancer research and treatment Vol. 95; no. 1; pp. 13 - 16
• Main Authors: GRABINSKI, J. L, SMITH, L. S, POLLOCK, B. H, KUHN, J. G, CHISHOLM, G. B, DRENGLER, R, RODRIGUEZ, G. I, LANG, A. S, KALTER, S. P, GARNER, A. M, FICHTEL, L. M, HOLLSTEN, J
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer 2006; Springer Nature B.V
• Subjects: Antineoplastic Agents, Hormonal - therapeutic use; Arylsulfotransferase - genetics; Biological and medical sciences; Breast cancer; Breast Neoplasms - drug therapy; Breast Neoplasms - enzymology; Breast Neoplasms - genetics; Cancer research; Cancer therapies; Chemotherapy, Adjuvant; Drug therapy; Female; Gene Frequency; Genotype; Genotype & phenotype; Gynecology. Andrology. Obstetrics; Humans; Mammary gland diseases; Medical sciences; Middle Aged; Polymerase Chain Reaction; Polymorphism; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Prognosis; Prospective Studies; Tamoxifen - therapeutic use; Tumors; Women; Antineoplastic agent; Human; Genetic variability; Antiestrogen; Adjuvant treatment; Genotype; Early stage; Breast cancer; Antihormone; Malignant tumor; Tamoxifene; SULT1A1; allelic frequency; Mammary gland diseases; early stage breast cancer; Adult; Female; Frequency; genotypic frequency; Woman; Non steroid compound; Polymorphism
• ISSN: 0167-6806; 1573-7217
• DOI: 10.1007/s10549-005-9019-5

Human sulfotransferase 1A1 (SULT1A1) is involved in the metabolism of a number of substances including 4-hydroxytamoxifen. It has been shown that patients who are homozygous for the variant SULT1A1 *2/*2 have lower catalytic activity. Previous data has suggested that patients with this particular genotype may be at a greater risk of developing breast cancer or not responding to tamoxifen therapy. To date, there is no data within the Hispanic population on the genotypic and allelic frequencies of the SULT1A1 gene. Two hundred and ninety-six patients were genotyped by either restriction fragment length polymorphism (RFLP) or Pyrosequencing for the SULT1A1 exon 7 polymorphism. The genotypic frequency was 0.47 (*1/*1), 0.40 (*1/*2) and 0.13 (*2/*2) in Caucasians and 0.37 (*1/*1), 0.45 (*1/*2) and 0.18 (*2/*2) in Hispanics. Although Hispanics have a higher genotypic frequency of variant genotypes this difference was not statistically significant (p=0.26). SULT1A1 genotype did not correlate with any prognostic or predictive markers associated with breast cancer. Future evaluations will assess the functional significance of this polymorphism on survival.