title: Polymorphism and overexpression of HER2/neu among ovarian carcinoma women from Tiruchirapalli, Tamil Nadu, India.
abstract: OBJECTIVE
  Alteration and overexpression of HER2 proto-oncogene have been implicated in the carcinogenesis and prognosis of ovarian cancer. We evaluated this hypothesis among women with ovarian carcinoma patients from Tiruchirapalli, Tamil Nadu, India.
  
  
  METHODS
  Genomic DNA was extracted from 72 case patients and 288 control subjects and was examined for I655V polymorphism by PCR-RFLP based assay. Immunohistochemistry analysis was carried out in order to study the overexpression of HER2 protein. The observed number of each genotype was compared with that expected for a population in the Hardy-Weinberg equilibrium. In analysing the relation between genotype and overexpression of HER2 protein, Cochran-Mantel-Haenszel statistics was used.
  
  
  RESULTS
  We found that 20.8% of the case patients and 16.3% of the control subjects were heterozygous for the Val allele and 10 case patients (13.8%) and 3 control subjects (1.1%) were homozygous for this allele (P < 0.001). Compared with women with Ile/Ile genotype, women with Val/Val genotype had an elevated risk of ovarian cancer. The genotype distributions were consistent with the Hardy-Weinberg equilibrium. The risk increased with the number of Val allele and women homozygous for the Val allele had 15-fold (OR = 15.3; 95%CI = 4.09-57.31) increased risk of cancer. The patients homozygous for the Valine allele showed strong HER2 protein expression.
  
  
  CONCLUSIONS
  The results showed that the valine allele may be an indicator of genetic susceptibility to ovarian carcinoma in the study population.
authors.affiliation: Department of Microbiology, Medical Microbiology Laboratory, School of Life Sciences, Bharathidasan University, Tiruchirappalli, 620 024, Tamil Nadu, India.
authors.forename: Santhanam
authors.initials: S
authors.lastname: Shanmughapriya
authors.forename: G
authors.initials: G
authors.lastname: Senthilkumar
authors.forename: Seshachalam
authors.initials: S
authors.lastname: Arun
authors.forename: Krishnakumar
authors.initials: K
authors.lastname: Vinodhini
authors.forename: Sivasubramanian
authors.initials: S
authors.lastname: Sudhakar
authors.forename: Kalimuthusamy
authors.initials: K
authors.lastname: Natarajaseenivasan
mesh_terms: D000328:Adult; D000483:Alleles; D002277:Carcinoma / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D018734:Genes, erbB-2 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D007194:India / Q000453:epidemiology; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D012150:Polymorphism, Restriction Fragment Length; D000090063:Proto-Oncogene Mas; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000235:genetics* / Q000378:metabolism*; D012306:Risk
chemical_list: D000090063:Proto-Oncogene Mas; D018719:Erb-b2 Receptor Tyrosine Kinases; C000715470:MAS1 protein, human