title: Association of CYP19 polymorphisms with breast cancer risk: A case-control study.
abstract: BACKGROUND
  The CYP19 gene is located on chromosome 15 and it plays an important role in aromatization, which results in production of estrogen from androgens. The mutation in this gene can result in either increased or decreased aromatase activity.
  
  
  METHODS
  A case-control study was designed to compare 250 breast cancer cases with 250 age-matched healthy controls. The frequency distribution of CYP19 polymorphism was assessed by polymerase chain reaction confronting two pair primers (PCR-CTPP).
  
  
  RESULTS
  CYP19 polymorphism at codon 39 Trp/Arg (W39R) results in three genotypes TT, TC, and CC, but in the present study CC genotype was not found in breast cancer cases as well as in controls. The TT genotype was significantly elevated in disease (90.8%) as compared to controls (68.5%). The frequency of TC was found to be increased in premenopausal women with breast cancer (12.2%) and the frequency of TT genotype was increased in patients who were postmenopausal (94.1%). The increased frequency of heterozygotes was found in cases with familial incidences of cancer (10.8%), estrogen and progesterone receptor positive status, node positive status (9.8%), and occupied in agriculture (14.8%). Higher frequencies of both TT and TC genotype were increased in patients with high body mass index (BMI). The frequency of TT genotype was found to be increased in advanced stage of the disease.
  
  
  CONCLUSIONS
  Hence, we conclude that W39 with increased aromatase activity confers greater risk to develop breast cancer especially in postmenopausal women and might also contribute to advanced stage.
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, Andhra Pradesh, India.
authors.forename: Damineni
authors.initials: D
authors.lastname: Surekha
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, Andhra Pradesh, India.
authors.forename: Kagitha
authors.initials: K
authors.lastname: Sailaja
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, Andhra Pradesh, India.
authors.forename: Dunna Nageswara
authors.initials: DN
authors.lastname: Rao
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, Andhra Pradesh, India.
authors.forename: Tirunalai
authors.initials: T
authors.lastname: Padma
authors.affiliation: Department of Medical Oncology, Nizams Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India.
authors.forename: Digumarthi
authors.initials: D
authors.lastname: Raghunadharao
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, Andhra Pradesh, India.
authors.forename: Satti
authors.initials: S
authors.lastname: Vishnupriya
keywords: Aromatization; CYP19; breast cancer; polymorphisms; receptor status
references.citation: Pharmacogenetics. 1997 Oct;7(5):419-24
references.pmid: 9352581
references.citation: Pharmacogenetics. 1998 Feb;8(1):43-8
references.pmid: 9511180
references.citation: N Engl J Med. 1997 Jul 10;337(2):91-5
references.pmid: 9211678
references.citation: DNA. 1988 Jan-Feb;7(1):27-38
references.pmid: 3390233
references.citation: Int J Cancer. 2000 Jul 20;89(4):325-8
references.pmid: 10956405
references.citation: Nucleic Acids Res. 1991 Oct 11;19(19):5444
references.pmid: 1681511
references.citation: J Mol Endocrinol. 1994 Dec;13(3):331-7
references.pmid: 7893351
references.citation: N Engl J Med. 1998 Aug 27;339(9):599-603
references.pmid: 9718379
references.citation: Eur J Endocrinol. 2002 Apr;146(4):583-9
references.pmid: 11916629
references.citation: Cancer Epidemiol Biomarkers Prev. 2008 Jan;17(1):27-32
references.pmid: 18199708
references.citation: Am J Obstet Gynecol. 1978 Feb 15;130(4):448-55
references.pmid: 629289
references.citation: Cancer Epidemiol Biomarkers Prev. 2004 Aug;13(8):1407-11
references.pmid: 15298966
references.citation: Nucleic Acids Res. 1991 Jan 11;19(1):195
references.pmid: 2011509
references.citation: Breast Cancer Res Treat. 2008 Nov;112(1):89-98
references.pmid: 18049890
references.citation: Annu Rev Physiol. 2002;64:93-127
references.pmid: 11826265
references.citation: J Clin Endocrinol Metab. 1996 Nov;81(11):3843-9
references.pmid: 8923826
references.citation: J Clin Endocrinol Metab. 1994 Feb;78(2):1616-21
references.pmid: 8106605